Vascular anomalies: Difference between revisions

	Vascular Anomalies
Home
Patient information
Overview
Classification Vascular Tumors Vascular Malformations Provisionally Unclassified Vascular Anomalies
Vascular Tumor Home Page
Vascular Malformation Home Page
Provisionally Unclassified Vascular Anomalies Home Page

VisualWikitext

Latest revision as of 15:32, 23 October 2018

For information on vascular tumors, click here.

For information on vascular malformations, click here.

For information on provisionally unclassified vascular anomalies, click here.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hannan Javed, M.D.[2], Anmol Pitliya, M.B.B.S. M.D.[3]

Overview

Vascular anomalies constitute a wide array of disorders ranging from benign lesions such as infantile hemangioma to aggressive malignant tumors such as angiosarcoma. Commonly used misnomers and confusing nomenclature has often presented difficulties for accurate diagnosis and appropriate management. International Society for the Study of Vascular Anomalies (ISSVA) has now classified vascular anomalies into vascular tumors and vascular malformations with an unclassified category for lesions that show clinical and histological characteristics unique from disorders classified in vascular tumors and vascular malformations.

Classification

Vascular Anomalies
Vascular Tumors	Vascular Malformations
Vascular Tumors	Simple vascular malformation	Combined vascular malformation*	Vascular malformation of major named vessels	Vascular malformation associated with other anomalies
Benign Locally aggressive or Borderline Malignant	Capillary malformations Lymphatic malformations Venous malformations Arteriovenous malformations Arteriovenous fistula	Capillary venous malformation Capillary lymphatic malformation Lymphatic venous malformation Capillary lymphatic venous malformation Capillary arteriovenous malformation Capillary lymphatic arteriovenous malformation Others For details, Click here	For details, Click here	For details, Click here
^* Defined as two or more vascular malformations found in one lesion ^** High flow lesions
Adapted from International Society for the Study of Vascular Anomalies^[1]

Classification of Vascular Tumors

Vascular tumors

Benign

Locally aggressive or borderline

Malignant

Infantile hemangioma / Hemangioma of infancy

Kaposiform hemangioendothelioma

Angiosarcoma

Congenital hemangioma

Retiform hemangioendothelioma

Epithelioid hemangioendothelioma

Tufted angioma

Papillary intralymphatic angioendothelioma (PILA), Dabska tumor

Others

Spindle-cell hemangioma

Composite hemangioendothelioma

Epithelioid hemangioma

Pseudomyogenic hemangioendothelioma

Pyogenic granuloma (also known as lobular capillary hemangioma)

Polymorphous hemangioendothelioma

Others
• Microvenular hemangioma
• Anastomosing hemangioma
• Glomeruloid hemangioma
• Papillary hemangioma
• Intravascular papillary endothelial hyperplasia
• Cutaneous epithelioid angiomatous nodule
• Acquired elastotic hemangioma
• Littoral cell hemangioma of the spleen

Hemangioendothelioma not otherwise specified

'

Related lesions
• Eccrine angiomatous hamartoma
• Reactive angioendotheliomatosis
• Bacillary angiomatosis

Kaposi sarcoma

Others

^*congenital hemangioma (rapidly involuting type) and tufted angioma may be associated with thrombocytopenia and/or consumptive coagulopathy in some cases. Many experts consider tufted angioma and kaposiform hemangioendothelioma to be part of a spectrum rather than distinct entities
Adapted from International Society for the Study of Vascular Anomalies^[1]

Classification of Vascular Malformations

Vascular malformations

Simple vascular malformations

Combined vascular malformations

Vascular malformations of major named vessels

Vascular malformations asscoiated with other anomalies

CM + VM	Capillary-venous malformation	CVM
CM + LM	Capillary-lymphatic malformation	CLM
CM + AVM	Capillary-arteriovenous malformation	CAVM
LM + VM	Lymphatic-venous malformation	LVM
CM + LM + VM	Capillary-lymphatic-venous malformation	CLVM
CM + LM + AVM	Capillary-lymphatic-arteriovenous malformation	CLVM
CM + VM + AVM	Capillary-venous-arteriovenous malformation	CVAVM
CM + LM + VM + AVM	Capillary-lymphatic-venous-arteriovenous malformation	CLVAVM

(also known as "channel type" or "truncal" vascular malformations)

Affect
• Lymphatics
• Veins
• Arteries
Anomalies of
• Origin
• Course
• Number
• Diameter (aplasia, hypoplasia, stenosis, ectasia / aneurysm)
• Valves
• Communication (AVF)
• Persistence (of embryonal vessel)

Klippel-Trenaunay syndrome	CM + VM +/-LM + limb overgrowth
Parke's Weber syndrome	CM + AVF + limb overgrowth
Servelle-Martorell syndrome	Limb VM + bone undergrowth
Sturge-Weber syndrome	Facial + leptomeningeal CM + eye anomalies +/-bone and/or soft tissue overgrowth
Maffucci syndrome	VM +/-spindle-cell hemangioma + enchondroma
CLOVES syndrome	LM + VM + CM +/-AVM+ lipomatous overgrowth
Proteus syndrome	CM, VM and/or LM + asymmetrical somatic overgrowth
Bannayan-Riley-Ruvalcaba syndrome	lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth
Limb CM + congenital non-progressive limb overgrowth
Macrocephaly-CM (M-CM / MCAP)
Microcephaly-CM (MICCAP)

Capillary malformations (CM)

Lymphatic malformations (LM)

Venous malformations (VM)

Arteriovenous malformation (AVM)

Arteriovenous fistula

Nevus simplex / salmon patch, “angel kiss”, “stork bite”

Common (cystic) LM
• Macrocystic LM
• Microcystic LM
• Mixed cystic LM

Common VM

Sporadic

Cutaneous and/or mucosal CM (also known as “port-wine” stain)
• Nonsyndromic CM
• CM with CNS and/or ocular anomalies (Sturge-Weber syndrome)
• CM with bone and/or soft tissues overgrowth
• Diffuse CM with overgrowth (DCMO)

Generalized lymphatic anomaly (GLA)
Kaposiform lymphangiomatosis (KLA)

Familial VM cutaneo-mucosal (VMCM)

In HHT

Reticulate CM
• CM of MIC-CAP (microcephaly-capillary malformation)
• CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)

LM in Gorham-Stout disease

Blue rubber bleb nevus (Bean) syndrome VM

In CM-AVM

CM of CM-AVM

Channel type LM

Glomuvenous malformation (GVM)

Others

Cutis marmorata telangiectatica congenita (CMTC)

“Acquired” progressive lymphatic anomaly (so called acquired progressive "lymphangioma")

Cerebral cavernous malformation (CCM)

Others

Primary lymphedema

Familial intraosseous vascular malformation (VMOS)

Telangiectasia
• Hereditary hemorrhagic telangiectasia (HHT)
• Others

Others

Verrucous venous malformation (formerly verrucous hemangioma)

Others

Abbreviations: CM:capillary malformation; VM:venous malformation; CVM:capillary venous malformation; LM:lymphatic malformation; CLM:capillary lymphatic malformation; AVM:arteriovenous malformation; CAVM:capillary arteriovenous malformation; LVM:lymphatic venous malformation; CLVM:capillary lymphatic venous malformation; CVAVM:capillary venous arteriovenous malformation; CLVAVM:capillary lymphatic venous arteriovenous malformation; AVF:arteriovenous fistula; CLOVES:congenital lipomatous overgrowth, vascular malformations, epidermal nevi, skeletal/scoliosis and spinal abnormalities; M-CM:macrocephaly-capillary malformation; MCAP:megalencephaly-capillary malformation-polymicrogyria; MICCAP:microcephaly-capillary malformation; CNS:central nervous system; DCMO:diffuse capillary malformation with overgrowth; CM-AVM:capillary malformation-arteriovenous malformation; CMTC:cutis marmorata telangiectatica congenita; HHT:hereditary hemorrhagic telangiectasia; GLA:generalized lymphatic anomaly; KLA:kaposiform lymphangiomatosis; VMCM:venous malformation cutaneo mucosal; GVM:glomuvenous malformation; CCM:cerebral cavernous malformation.

Adapted from International Society for the Study of Vascular Anomalies^[1]

Provisionally unclassified vascular anomalies

Provisionally unclassified vascular anomalies
Intramuscular hemangioma *
Angiokeratoma
Sinusoidal hemangioma
Acral arteriovenous "tumour"
Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT)
PTEN (type) hamartoma of soft tissue / "angiomatosis" of soft tissue (PHOST)
Fibro adipose vascular anomaly (FAVA)
^* Distinct from infantile hemangioma, from intramuscular common VM, PHOST/AST, FAVA and AVM. Some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy.
Adapted from International Society for the Study of Vascular Anomalies^[1]

Abbreviations: VM:venous malformation; AVM:arteriovenous malformation; CAVM:capillary arteriovenous malformation; MLT:Multifocal lymphangioendotheliomatosis with thrombocytopenia; CAT:cutaneovisceral angiomatosis with thrombocytopenia; PHOST:PTEN hamartoma of soft tissue; FAVA:Fibro adipose vascular anomaly; AST:angiomatosis of soft tissue.

Genetics in Vascular Anomalies

Causal genes of vascular anomalies
ACVRL1	Telangiectasia, AVM and AVF of HHT2
AKT1	Proteus syndrome
BRAF	Pyogenic granuloma PG
CAMTA1	Epithelioid hemangioendothelioma EHE
CCBE1	Primary generalized lymphatic anomaly (Hennekam lymphangiectasia-lymphedema syndrome)
ELMO2	Familial intraosseous vascular malformation VMOS
ENG	Telangiectasia, AVM and AVF of HHT1
EPHB4	CM-AVM2
FLT4	Nonne-Milroy syndrome (gene also named VEGFR3)
FOS	Epithelioid hemangioma EH
FOSB	Pseudomyogenic hemangioendothelioma
FOXC2	Lymphedema-distichiasis
GATA2	Primary lymphedema with myelodysplasia
GJC2	Primary hereditary lymphedema
Glomulin	Glomuvenous malformation
GNA11	Congenital hemangioma CH CM with bone and/or soft tissue hyperplasia Diffuse CM with overgrowth DCMO
GNA14	Tufted angioma TA Pyogenic granuloma PG Kaposiform hemangioendothelioma KHE
GNAQ	Congenital hemangioma CH CM "Port-wine" stain, nonsyndromic CM CM of Sturge-Weber syndrome
IDH1	Maffucci syndrome Spindle-cell hemangioma
IDH2	Maffucci syndrome Spindle-cell hemangioma
KIF11	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
KRIT1	Cerebral cavernous malformation CCM1
Malcavernin	Cerebral cavernous malformation CCM2
MAP2K1	Arteriovenous malformation AVM (sporadic)
MAP2K1	Ateriovenous fistula AVF (sporadic)
MAP3K3	Verrucous venous malformation (somatic)
MYC	Post radiation angiosarcoma
NPM11	Maffucci syndrome
PDCD10	Cerebral cavernous malformation CCM3
PIK3CA	Common (cystic) LM (somatic)* Common VM (somatic)* Klippel-Trenaunay syndrome* Megalencephaly-capillary malformation-polymicrogyria (MCAP)* CLOVES syndrome* CLAPO syndrome* Fibro adipose vascular anomaly FAVA
PTEN	Bannayan-Riley-Ruvalcaba syndrome PTEN (type) Hamartoma of soft tissue / "angiomatosis" of soft tissue
PTPN14	Lymphedema-choanal atresia
RASA1	CM-AVM1 Parkes Weber syndrome
SMAD4	Telangiectasia, AVM and AVF of Juvenile polyposis hemorrhagic telangiectasia JPHT
SOX18	Hypotrichosis-lymphedema-telangiectasia
STAMBP	Microcephaly-CM (MIC-CAP)
TEK (TIE2)	Common VM (somatic) Familial VM cutaneo-mucosal VMCM Blue rubber bleb nevus (Bean) syndrome (somatic)
TFE3	Epithelioid hemangioendothelioma EHE
VEGFC	Primary hereditary lymphedema
VEGFR3	Nonne-Milroy syndrome (gene also named FLT4)
^*Some of these lesions, associated with overgrowth, belong to the PIK3CA related overgrowth spectrum PROS
Adapted from International Society for the Study of Vascular Anomalies^[1]

Vascular anomalies possibly associated with platelet count / coagulation disorders


Anomalies	Hematological disorders
Tufted angioma Kaposiform hemangioendothelioma	Profound and sustained thrombocytopenia with profound hypofibrinogenemia, consumptive coagulopathy and elevated D-dimer (Kasabach-Merritt phenomenon)
Rapidly involuting congenital hemangioma	Transient mild/moderate thrombocytopenia, +/- consumptive coagulopathy and elevated D-dimer
Venous malformations / Lymphatic-venous malformations	Chronic localized intravascular coagulopathy with elevated D-dimer, +/- hypofibrinogenemia, and +/- moderate thrombocytopenia (may progress to DIC after trauma or operation)
Lymphatic malformations	Chronic localized intravascular coagulopathy with elevated D-dimer and +/- mild to moderate thrombocytopenia (consider Kaposiform lymphangiomatosis) (may progress to DIC after trauma or operation)
Multifocal lymphangioendotheliomatosis with thrombocytopenia / Cutaneovisceral angiomatosis with thrombocytopenia	Sustained, fluctuating, moderate to profound thrombocytopenia with gastrointestinal tract bleeding or pulmonary hemorrhage
Kaposiform lymphangiomatosis	Mild/moderate thrombocytopenia, +/- hypofibrinogenemia, and D-dimer elevation
Adapted from International Society for the Study of Vascular Anomalies^[1]

References

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 "Classification | International Society for the Study of Vascular Anomalies".

[urlClassification_|_International_Society_for_the_Study_of_Vascular_Anomalies-1] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 "Classification | International Society for the Study of Vascular Anomalies".

[1]

Vascular anomalies: Difference between revisions

Latest revision as of 15:32, 23 October 2018

Overview

Classification

Classification of Vascular Tumors

Classification of Vascular Malformations

Provisionally unclassified vascular anomalies

Genetics in Vascular Anomalies

Vascular anomalies possibly associated with platelet count / coagulation disorders

See also

References

Navigation menu

@@ Line 1: / Line 1: @@
 __NOTOC__
+'''For information on vascular tumors, [[Vascular tumor|click here]].'''
+'''For information on vascular malformations, [[Vascular malformation|click here]].'''
+'''For information on provisionally unclassified vascular anomalies, [[Provisionally unclassified vascular anomalies|click here]].'''
 {{Vascular anomalies}}
 {{CMG}}; {{AE}} {{HMHJ}}, {{Anmol}}
@@ Line 24: / Line 29: @@
 *Malignant
 | style="background:#F5F5F5;" + |
-*Capillary malformations
+*[[Capillary malformations]]
-*Lymphatic malformations
+*[[Lymphatic malformations]]
-*Venous malformations
+*[[Venous malformations]]
-*Arteriovenous malformations**
+*[[Arteriovenous malformations]]**
-*Arteriovenous fistula**
+*[[Arteriovenous fistula]]**
 | style="background:#F5F5F5;" + |
 *Capillary venous malformation
@@ Line 44: / Line 49: @@
 <sup>*</sup> Defined as two or more vascular malformations found in one lesion<br>
 <sup>**</sup> High flow lesions
+|-
+| colspan="5" style="background:#7d7d7d; color: #FFFFFF;" + |<small>'''Adapted from International Society for the Study of Vascular Anomalies'''<ref name="urlClassification | International Society for the Study of Vascular Anomalies">{{cite web |url=http://www.issva.org/classification |title=Classification &#124; International Society for the Study of Vascular Anomalies |format= |work= |accessdate=}}</ref></small>
 |}
-=== Classification of Vascular Tumors ===
+===[[Classification of Vascular Tumors]]===
 {{Family tree/start}}
-{{Family tree | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | A01= '''Vascular tumors'''}}
+{{Family tree | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | A01= '''[[Vascular tumors]]'''}}
 {{Family tree | | | | | | | |,|-|-|-|-|-|-|-|+|-|-|-|-|-|-|-|.| | | | | | | | | }}
 {{Family tree | | | | | | | B01 | | | | | | B02 | | | | | | B03 | | | | | | | | B01='''''Benign'''''|B02='''''Locally aggressive or borderline'''''|B03='''''Malignant'''''}}
 {{Family tree | | | | | | |!| | | | | | | |!| | | | | | | |!| | | | | | | | | | }}
-{{Family tree | | | | | | |)| C01 | | | | |)| D01 | | | | |)| E01 | | | | | | | C01=Infantile hemangioma / Hemangioma of infancy|D01=Kaposiform hemangioendothelioma<sup>*</sup>|E01=Angiosarcoma}}
+{{Family tree | | | | | | |)| C01 | | | | |)| D01 | | | | |)| E01 | | | | | | | C01=[[Infantile hemangioma]] / [[Hemangioma of infancy]]|D01=[[Kaposiform hemangioendothelioma]]|E01=[[Angiosarcoma]]}}
 {{Family tree | | | | | | |!| | | | | | | |!| | | | | | | |!| | | | | | | | | | }}
-{{Family tree | | | | | | |)| C02 | | | | |)| D02 | | | | |)| E02 | | | | | | | C02=Congenital hemangioma<sup>*</sup>|D02=Retiform hemangioendothelioma|E02=Epithelioid hemangioendothelioma }}
+{{Family tree | | | | | | |)| C02 | | | | |)| D02 | | | | |)| E02 | | | | | | | C02=[[Congenital hemangioma]]|D02=[[Retiform hemangioendothelioma]]|E02=[[Epithelioid hemangioendothelioma]]}}
 {{Family tree | | | | | | |!| | | | | | | |!| | | | | | | |!| | | | | | | | | | }}
-{{Family tree | | | | | | |)| C03 | | | | |)| D03 | | | | |`| E03 | | | | | | | C03=Tufted angioma<sup>*</sup>|D03=Papillary intralymphatic angioendothelioma (PILA), Dabska tumor|E03=Others}}
+{{Family tree | | | | | | |)| C03 | | | | |)| D03 | | | | |`| E03 | | | | | | | C03=[[Tufted angioma]]|D03=[[Papillary intralymphatic angioendothelioma]] ([[PILA]]), [[Dabska tumor]]|E03=Others}}
 {{Family tree | | | | | | |!| | | | | | | |!| | | | | | | | | | | | | | | | | | }}
-{{Family tree | | | | | | |)| C04 | | | | |)| D04 | | | | | | | | | | | | | | | C04=Spindle-cell hemangioma|D04=Composite hemangioendothelioma}}
+{{Family tree | | | | | | |)| C04 | | | | |)| D04 | | | | | | | | | | | | | | | C04=[[Spindle-cell hemangioma]]|D04=[[Composite hemangioendothelioma]]}}
 {{Family tree | | | | | | |!| | | | | | | |!| | | | | | | | | | | | | | | | | | }}
-{{Family tree | | | | | | |)| C05 | | | | |)| D05 | | | | | | | | | | | | | | | C05=Epithelioid hemangioma|D05=Pseudomyogenic hemangioendothelioma}}
+{{Family tree | | | | | | |)| C05 | | | | |)| D05 | | | | | | | | | | | | | | | C05=[[Epithelioid hemangioma]]|D05=[[Pseudomyogenic hemangioendothelioma]]}}
 {{Family tree | | | | | | |!| | | | | | | |!| | | | | | | | | | | | | | | | | | }}
-{{Family tree | | | | | | |)| C06 | | | | |)| D06 | | | | | | | | | | | | | | | C06=Pyogenic granuloma (also known as lobular capillary hemangioma)|D06=Polymorphous hemangioendothelioma}}
+{{Family tree | | | | | | |)| C06 | | | | |)| D06 | | | | | | | | | | | | | | | C06=[[Pyogenic granuloma]] (also known as [[lobular capillary hemangioma]])|D06=[[Polymorphous hemangioendothelioma]]}}
 {{Family tree | | | | | | |!| | | | | | | |!| | | | | | | | | | | | | | | | | | }}
 {{Family tree | | | | | | |)| C07 | | | | |)| D07 | | | | | | | | | | | | | | | | |C07=<table>
 <tr><td>Others</td></tr>
-<tr><td>• Microvenular hemangioma<td></tr>
+<tr><td>• [[Microvenular hemangioma]]<td></tr>
-<tr><td>• Anastomosing hemangioma<td></tr>
+<tr><td>• [[Anastomosing hemangioma]]<td></tr>
-<tr><td>• Glomeruloid hemangioma<td></tr>
+<tr><td>• [[Glomeruloid hemangioma]]<td></tr>
-<tr><td>• Papillary hemangioma<td></tr>
+<tr><td>• [[Papillary hemangioma]]<td></tr>
-<tr><td>• Intravascular papillary endothelial hyperplasia<td></tr>
+<tr><td>• [[Intravascular papillary endothelial hyperplasia]]<td></tr>
-<tr><td>• Cutaneous epithelioid angiomatous nodule<td></tr>
+<tr><td>• [[Cutaneous epithelioid angiomatous nodule]]<td></tr>
-<tr><td>• Acquired elastotic hemangioma<td></tr>
+<tr><td>• [[Acquired elastotic hemangioma]]<td></tr>
-<tr><td>• Littoral cell hemangioma of the spleen<td></tr>
+<tr><td>• [[Littoral cell hemangioma of the spleen]]<td></tr>
 </table> |D07=Hemangioendothelioma not otherwise specified}}
 {{Family tree | | | | | | |!| | | | | | | |!| | | | | | | | | | | | | | | | | | }}
 {{Family tree | | | | | | |`| C08 | | | | |)| D08 | | | | | | | | | | | | | | | |C08=<table>
 <tr><td>Related lesions</td></tr>
-<tr><td>• Eccrine angiomatous hamartoma<td></tr>
+<tr><td>• [[Eccrine angiomatous hamartoma]]<td></tr>
-<tr><td>• Reactive angioendotheliomatosis<td></tr>
+<tr><td>• [[Reactive angioendotheliomatosis]]<td></tr>
-<tr><td>• Bacillary angiomatosis<td></tr>'
+<tr><td>• [[Bacillary angiomatosis]]<td></tr>'
-</table> |D08=Kaposi sarcoma}}
+</table> |D08=[[Kaposi sarcoma]]}}
 {{Family tree | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | }}
 {{Family tree | | | | | | | | | | | | | | |`| D09 | | | | | | | | | | | | | | | D09=Others}}
@@ Line 89: / Line 95: @@
-<sup>*</sup>congenital hemangioma (rapidly involuting type) and tufted angioma may be associated with thrombocytopenia and/or consumptive coagulopathy in some cases. Many experts consider tufted angioma and kaposiform hemangioendothelioma to be part of a spectrum rather than distinct entities
+<sup>*</sup>[[congenital hemangioma]] (rapidly involuting type) and [[tufted angioma]] may be associated with thrombocytopenia and/or consumptive coagulopathy in some cases. Many experts consider [[tufted angioma]] and [[kaposiform hemangioendothelioma]] to be part of a spectrum rather than distinct entities<br>
+'''Adapted from International Society for the Study of Vascular Anomalies'''<ref name="urlClassification | International Society for the Study of Vascular Anomalies">{{cite web |url=http://www.issva.org/classification |title=Classification &#124; International Society for the Study of Vascular Anomalies |format= |work= |accessdate=}}</ref></small>
 ===Classification of Vascular Malformations===
 {{Family tree/start}}
-{{Family tree | | | | | | | A01 | | | | | | | |A01= '''Vascular malformations'''}}
+{{Family tree | | | | | | | A01 | | | | | | | |A01= '''[[Vascular malformations]]'''}}
 {{Family tree | |,|-|-|-|v|-|^|-|v|-|-|-|.| | |}}
-{{Family tree | B01 | | B02 | | B03 | | B04 | |B01='''''Simple vascular malformations'''''|B02='''''Combined vascular malformations'''''|B03='''''Vascular malformations of major named vessels'''''|B04='''''Vascular malformations asscoiated with other anomalies'''''}}
+{{Family tree | B01 | | B02 | | B03 | | B04 | |B01='''''[[Simple vascular malformations]]'''''|B02='''''[[Combined vascular malformations]]'''''|B03='''''Vascular malformations of major named vessels'''''|B04='''''[[Vascular malformations asscoiated with other anomalies]]'''''}}
 {{Family tree | |!| | | |!| | | |!| | | |!| | |}}
-{{Family tree | |!| | | I02 | | I03 | | I04 | |I02=*<table class="wikitable">
+{{Family tree | |!| | | I02 | | I03 | | I04 | |I02=<table class="wikitable">
 <tr><td>'''CM + VM'''</td><td>Capillary-venous malformation</td><td>CVM</td></tr>
 <tr><td>'''CM + LM'''</td><td>Capillary-lymphatic malformation</td><td>CLM</td></tr>
@@ Line 108: / Line 115: @@
 <tr><td>'''CM + LM + VM + AVM'''</td><td>Capillary-lymphatic-venous-arteriovenous malformation</td><td>CLVAVM</td></tr>
 </table>|I03=<br>(also known as "channel type" or "truncal" vascular malformations)<br><table>
-<tr><td>Affect</td></tr>
+<tr><td>'''Affect'''</td></tr>
-<tr><td>• Lymphatics<td></tr>
+<tr><td>• [[Lymphatics]]<td></tr>
-<tr><td>• Veins</tr>
+<tr><td>• [[Veins]]</tr>
-<tr><td>• Arteries</tr>
+<tr><td>• [[Arteries]]</tr>
-<tr><td>Anomalies of</td></tr>
+<tr><td>'''Anomalies of'''</td></tr>
 <tr><td>• Origin<td></tr>
 <tr><td>• Course<td></tr>
@@ Line 121: / Line 128: @@
 <tr><td>• Persistence (of<br>embryonal vessel)<td></tr>
 </table>|I04=<table class="wikitable">
-<tr><td>'''Klippel-Trenaunay syndrome'''</td><td>CM + VM +/-LM + limb overgrowth</td></tr>
+<tr><td>'''[[Klippel-Trenaunay syndrome]]'''</td><td>CM + VM +/-LM + limb overgrowth</td></tr>
-<tr><td>'''Parke's Weber syndrome'''</td><td>CM + AVF + limb overgrowth</td></tr>
+<tr><td>'''[[Parke's Weber syndrome]]'''</td><td>CM + AVF + limb overgrowth</td></tr>
-<tr><td>'''Servelle-Martorell syndrome'''</td><td>Limb VM + bone undergrowth</td></tr>
+<tr><td>'''[[Servelle-Martorell syndrome]]'''</td><td>Limb VM + bone undergrowth</td></tr>
-<tr><td>'''Sturge-Weber syndrome'''</td><td>Facial + leptomeningeal CM + eye anomalies +/-bone and/or soft tissue overgrowth</td></tr>
+<tr><td>'''[[Sturge-Weber syndrome]]'''</td><td>Facial + leptomeningeal CM + eye anomalies +/-bone and/or soft tissue overgrowth</td></tr>
-<tr><td>'''Maffucci syndrome'''</td><td>VM +/-spindle-cell hemangioma + enchondroma</td></tr>
+<tr><td>'''[[Maffucci syndrome]]'''</td><td>VM +/-spindle-cell hemangioma + enchondroma</td></tr>
-<tr><td>'''CLOVES syndrome'''</td><td>LM + VM + CM +/-AVM+ lipomatous overgrowth</td></tr>
+<tr><td>'''[[CLOVES syndrome]]'''</td><td>LM + VM + CM +/-AVM+ lipomatous overgrowth</td></tr>
-<tr><td>'''Proteus syndrome'''</td><td>CM, VM and/or LM + asymmetrical somatic overgrowth</td></tr>
+<tr><td>'''[[Proteus syndrome]]'''</td><td>CM, VM and/or LM + asymmetrical somatic overgrowth</td></tr>
-<tr><td>'''Bannayan-Riley-Ruvalcaba sd'''</td><td>lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth</td></tr>
+<tr><td>'''[[Bannayan-Riley-Ruvalcaba syndrome]]'''</td><td>lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth</td></tr>
 <tr><td colspan="2">'''Limb CM + congenital non-progressive limb overgrowth'''</td></tr>
 <tr><td colspan="2">'''Macrocephaly-CM (M-CM / MCAP)'''</td></tr>
@@ Line 136: / Line 143: @@
 {{Family tree | |!| | |}}
 {{Family tree | |)|-|-|-|v|-|-|-|v|-|-|-|v|-|-|-|.| | |}}
-{{Family tree | | C01 | | C02 | | C03 | | C04 | | C05 | |C01=Capillary malformations (CM)|C02=Lymphatic malformations (LM)|C03=Venous malformations (VM)|C04=Arteriovenous<br>malformation(AVM)|C05=Arteriovenous fistula}}
+{{Family tree | | C01 | | C02 | | C03 | | C04 | | C05 | |C01=[[Capillary malformations]] (CM)|C02=[[Lymphatic malformations]] (LM)|C03=[[Venous malformations]] (VM)|C04=[[Arteriovenous malformation]] (AVM)|C05=[[Arteriovenous fistula]]}}
 {{Family tree | |!| | | |!| | | |!| | | |!| | | |!| | | |}}
-{{Family tree | |)| D01 |)| E01 |)| F01 |)| G01 |)| H01 |D01=Nevus simplex / salmon patch, “angel kiss”, “stork bite”|E01=<table>
+{{Family tree | |)| D01 |)| E01 |)| F01 |)| G01 |)| H01 |D01=[[Nevus simplex]] / [[salmon patch]], “[[angel kiss]]”, “[[stork bite]]”|E01=<table>
-<tr><td>Common (cystic) LM </td></tr>
+<tr><td>[[Common (cystic) LM]] </td></tr>
-<tr><td>• Macrocystic  LM<td></tr>
+<tr><td>• [[Macrocystic  LM]]<td></tr>
-<tr><td>• Microcystic LM<td></tr>
+<tr><td>• [[Microcystic LM]]<td></tr>
-<tr><td>• Mixed cystic LM<td></tr>
+<tr><td>• [[Mixed cystic LM]]<td></tr>
-</table>|F01=Common VM|G01=Sporadic|H01=Sporadic}}
+</table>|F01=[[Common VM]]|G01=Sporadic|H01=Sporadic}}
 {{Family tree | |!| | | |!| | | |!| | | |!| | | |!| | | |}}
 {{Family tree | |)| D02 |)| E02 |)| F02 |)| G02 |)| H02 |D02=<table>
-<tr><td>Cutaneous and/or mucosal CM (also known as “port-wine” stain) </td></tr>
+<tr><td>[[Cutaneous and/or mucosal CM]] (also known as [[“port-wine” stain]]) </td></tr>
-<tr><td>• Nonsyndromic CM<td></tr>
+<tr><td>• [[Nonsyndromic CM]]<td></tr>
-<tr><td>• CM with CNS and/or ocular anomalies (Sturge-Weber syndrome)<td></tr>
+<tr><td>• CM with CNS and/or ocular anomalies ([[Sturge-Weber syndrome]])<td></tr>
 <tr><td>• CM with bone and/or soft tissues overgrowth <td></tr>
-<tr><td>• Diffuse CM with overgrowth (DCMO) <td></tr>
+<tr><td>• [[Diffuse CM with overgrowth]] ([[DCMO]]) <td></tr>
-</table>|E02=Generalized lymphatic anomaly (GLA)<br>Kaposiform lymphangiomatosis (KLA)|F02=Familial VM cutaneo-mucosal (VMCM)|G02=In HHT|H02=In HHT|}}
+</table>|E02=[[Generalized lymphatic anomaly]] ([[GLA]])<br>[[Kaposiform lymphangiomatosis]] ([[KLA]])|F02=[[Familial VM cutaneo-mucosal]] ([[VMCM]])|G02=In [[HHT]]|H02=In [[HHT]]|}}
 {{Family tree | |!| | | |!| | | |!| | | |!| | | |!| | | |}}
 {{Family tree | |)| D03 |)| E03 |)| F03 |)| G03 |)| H03 |D03=<table>
-<tr><td>Reticulate CM </td></tr>
+<tr><td>[[Reticulate CM]] </td></tr>
 <tr><td>• CM of MIC-CAP (microcephaly-capillary malformation)<td></tr>
 <tr><td>• CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)<td></tr>
 </table>
-|E03=LM in Gorham-Stout disease|F03=Blue rubber bleb nevus (Bean) syndrome VM|G03=In CM-AVM|H03=In CM-AVM|}}
+|E03=LM in [[Gorham-Stout disease]]|F03=[[Blue rubber bleb nevus (Bean) syndrome]] VM|G03=In [[CM-AVM]]|H03=In [[CM-AVM]]|}}
 {{Family tree | |!| | | |!| | | |!| | | |!| | | |!| | | | |}}
-{{Family tree | |)| D04 |)| E04 |)| F04 |`| G04 |`| H04 |D04=CM of CM-AVM|E04=Channel type LM|F04=Glomuvenous malformation (GVM)|G04=Others|H04=Others|}}
+{{Family tree | |)| D04 |)| E04 |)| F04 |`| G04 |`| H04 |D04=[[CM of CM-AVM]]|E04=Channel type LM|F04=[[Glomuvenous malformation]] ([[GVM]])|G04=Others|H04=Others|}}
 {{Family tree | |!| | | |!| | | |!| | | | | | | | | | | |}}
-{{Family tree | |)| D05 |)| E05 |)| F05 | | | | | | | | |D05=Cutis marmorata telangiectatica congenita (CMTC)|E05=“Acquired” progressive lymphatic anomaly (so called acquired progressive "lymphangioma")|F05=Cerebral cavernous malformation (CCM) |}}
+{{Family tree | |)| D05 |)| E05 |)| F05 | | | | | | | | |D05=[[Cutis marmorata telangiectatica congenita]] ([[CMTC]])|E05=[[“Acquired” progressive lymphatic anomaly]] (so called [[acquired progressive "lymphangioma"]])|F05=[[Cerebral cavernous malformation]] ([[CCM]]) |}}
 {{Family tree | |!| | | |!| | | |!| | | | | | | | | | | |}}
-{{Family tree | |)| D06 |)| E06 |)| F06 | | | | | | | | |D06=Others|E06=Primary lymphedema |F06=Familial intraosseous vascular malformation (VMOS)|}}
+{{Family tree | |)| D06 |)| E06 |)| F06 | | | | | | | | |D06=Others|E06=[[Primary lymphedema]] |F06=[[Familial intraosseous vascular malformation]] ([[VMOS]])|}}
 {{Family tree | |!| | | |!| | | |!| | | | | | | | | | | |}}
 {{Family tree | |`| D07 |`| E07 |)| F07 | | | | | | | | |D07=<table>
-<tr><td>Telangiectasia </td></tr>
+<tr><td>[[Telangiectasia]] </td></tr>
-<tr><td>• Hereditary hemorrhagic telangiectasia (HHT) <td></tr>
+<tr><td>• [[Hereditary hemorrhagic telangiectasia]] (HHT) <td></tr>
 <tr><td>• Others<td></tr>
-</table>|E07=Others|F07=Verrucous venous malformation (formerly verrucous hemangioma)|}}
+</table>|E07=Others|F07=[[Verrucous venous malformation]] (formerly [[verrucous hemangioma]])|}}
 {{Family tree | | | | | | | | | |!| | | | | | | | | | | |}}
 {{Family tree | | | | | | | | | |`| F08 | | | | | | | | |F08=Others|}}
 {{Family tree/end}}
+<small>'''Abbreviations:''' CM:capillary malformation; VM:venous malformation; CVM:capillary venous malformation; LM:lymphatic malformation; CLM:capillary lymphatic malformation; AVM:arteriovenous malformation; CAVM:capillary arteriovenous malformation; LVM:lymphatic venous malformation; CLVM:capillary lymphatic venous malformation; CVAVM:capillary venous arteriovenous malformation; CLVAVM:capillary lymphatic venous arteriovenous malformation; AVF:arteriovenous fistula; CLOVES:congenital lipomatous overgrowth, vascular malformations, epidermal nevi, skeletal/scoliosis and spinal abnormalities; M-CM:macrocephaly-capillary malformation; MCAP:megalencephaly-capillary malformation-polymicrogyria; MICCAP:microcephaly-capillary malformation; CNS:central nervous system; DCMO:diffuse capillary malformation with overgrowth; CM-AVM:capillary malformation-arteriovenous malformation; CMTC:cutis marmorata telangiectatica congenita; HHT:hereditary hemorrhagic telangiectasia; GLA:generalized lymphatic anomaly; KLA:kaposiform lymphangiomatosis; VMCM:venous malformation cutaneo mucosal; GVM:glomuvenous malformation; CCM:cerebral cavernous malformation.</small>
+'''Adapted from International Society for the Study of Vascular Anomalies'''<ref name="urlClassification | International Society for the Study of Vascular Anomalies">{{cite web |url=http://www.issva.org/classification |title=Classification &#124; International Society for the Study of Vascular Anomalies |format= |work= |accessdate=}}</ref></small>
 ===Provisionally unclassified vascular anomalies===
@@ Line 179: / Line 189: @@
 ! style="background:#4479BA; color: #FFFFFF;" align="center" + |Provisionally unclassified vascular anomalies
 |-
-|Intramuscular hemangioma *
+|[[Intramuscular hemangioma]] *
+|-
+|[[Angiokeratoma]]
 |-
-|Angiokeratoma
+|[[Sinusoidal hemangioma]]
 |-
-|Sinusoidal hemangioma
+|[[Acral arteriovenous "tumour"]]
 |-
-|Acral arteriovenous "tumour"
+|[[Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT)]]
 |-
-|Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral<br>angiomatosis with thrombocytopenia (MLT/CAT)
+|[[PTEN (type) hamartoma of soft tissue]] / [["angiomatosis" of soft tissue]]
+([[PHOST]])
 |-
-|PTEN (type) hamartoma of soft tissue / "angiomatosis" of soft tissue
+|[[Fibro adipose vascular anomaly]] ([[FAVA]])
-(PHOST)
 |-
-|Fibro adipose vascular anomaly (FAVA)
+| style="background:#DCDCDC;" + |<sup>*</sup> Distinct from [[infantile hemangioma]], from intramuscular common VM, [[PHOST]]/[[AST]], [[FAVA]] and [[AVM]].<br>Some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy.
 |-
-| style="background:#DCDCDC;" + |<sup>*</sup> Distinct from infantile hemangioma, from intramuscular common VM, PHOST/AST, FAVA and AVM.<br>Some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy.
+| colspan="2" style="background:#7d7d7d; color: #FFFFFF;" + |<small>'''Adapted from International Society for the Study of Vascular Anomalies'''<ref name="urlClassification | International Society for the Study of Vascular Anomalies">{{cite web |url=http://www.issva.org/classification |title=Classification &#124; International Society for the Study of Vascular Anomalies |format= |work= |accessdate=}}</ref></small>
 |}
-== Genetics in Vascular Anomalies ==
+<small>'''Abbreviations:''' VM:venous malformation; AVM:arteriovenous malformation; CAVM:capillary arteriovenous malformation; MLT:Multifocal lymphangioendotheliomatosis with thrombocytopenia; CAT:cutaneovisceral angiomatosis with thrombocytopenia; PHOST:PTEN hamartoma of soft tissue; FAVA:Fibro adipose vascular anomaly; AST:angiomatosis of soft tissue.</small>
+==Genetics in Vascular Anomalies==
 {| class="wikitable"
-|+
 ! colspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Causal genes of vascular anomalies
 |-
 | style="background:#DCDCDC;" align="center" + |ACVRL1
-|Telangiectasia, AVM and AVF of HHT2
+|[[Telangiectasia]], [[AVM]] and [[AVF]] of [[HHT]]2
 |-
 | style="background:#DCDCDC;" align="center" + |AKT1
-|Proteus syndrome
+|[[Proteus syndrome]]
 |-
 | style="background:#DCDCDC;" align="center" + |BRAF
-|Pyogenic granuloma PG
+|[[Pyogenic granuloma]] PG
 |-
 | style="background:#DCDCDC" align="center" + |CAMTA1
-|Epithelioid hemangioendothelioma EHE
+|[[Epithelioid hemangioendothelioma]] EHE
 |-
 | style="background:#DCDCDC" align="center" + |CCBE1
-|Primary generalized lymphatic anomaly (Hennekam lymphangiectasia-lymphedema syndrome)
+|[[Primary generalized lymphatic anomaly]] (Hennekam lymphangiectasia-lymphedema syndrome)
 |-
 | style="background:#DCDCDC;" align="center" + |ELMO2
-|Familial intraosseous vascular malformation VMOS
+|[[Familial intraosseous vascular malformation]] [[VMOS]]
 |-
 | style="background:#DCDCDC;" align="center" + |ENG
-|Telangiectasia, AVM and AVF of HHT1
+|[[Telangiectasia]], [[AVM]] and [[AVF]] of [[HHT]]1
 |-
 | style="background:#DCDCDC;" align="center" + |EPHB4
@@ Line 227: / Line 240: @@
 |-
 | style="background:#DCDCDC;" align="center" + |FLT4
-|Nonne-Milroy syndrome (gene also named VEGFR3)
+|[[Nonne-Milroy syndrome]] (gene also named VEGFR3)
 |-
 | style="background:#DCDCDC;" align="center" + |FOS
-|Epithelioid hemangioma EH
+|[[Epithelioid hemangioma]] EH
 |-
 | style="background:#DCDCDC;" align="center" + |FOSB
-|Pseudomyogenic hemangioendothelioma
+|[[Pseudomyogenic hemangioendothelioma]]
 |-
 | style="background:#DCDCDC;" align="center" + |FOXC2
-|Lymphedema-distichiasis
+|[[Lymphedema-distichiasis]]
 |-
 | style="background:#DCDCDC;" align="center" + |GATA2
-|Primary lymphedema with myelodysplasia
+|[[Primary lymphedema with myelodysplasia]]
 |-
 | style="background:#DCDCDC;" align="center" + |GJC2
-|Primary hereditary lymphedema
+|[[Primary hereditary lymphedema]]
 |-
 | style="background:#DCDCDC;" align="center" + |Glomulin
-|Glomuvenous malformation
+|[[Glomuvenous malformation]]
 |-
 | style="background:#DCDCDC;" align="center" + |GNA11
-|Congenital hemangioma CH
+|[[Congenital hemangioma]] CH
 CM with bone and/or soft tissue hyperplasia
-Diffuse CM with overgrowth DCMO
+[[Diffuse CM with overgrowth]] [[DCMO]]
 |-
 | style="background:#DCDCDC;" align="center" + |GNA14
-|Tufted angioma TA
+|[[Tufted angioma]] TA
-Pyogenic granuloma PG
+[[Pyogenic granuloma]] PG
-Kaposiform hemangioendothelioma KHE
+[[Kaposiform hemangioendothelioma]] KHE
 |-
 | style="background:#DCDCDC;" align="center" + |GNAQ
-|Congenital hemangioma CH
+|[[Congenital hemangioma]] CH
-CM "Port-wine" stain, nonsyndromic CM
+CM [["Port-wine" stain]], [[nonsyndromic CM]]
-CM of Sturge-Weber syndrome
+CM of [[Sturge-Weber syndrome]]
 |-
 | style="background:#DCDCDC;" align="center" + |IDH1
-|Maffucci syndrome
+|[[Maffucci syndrome]]
-Spindle-cell hemangioma
+[[Spindle-cell hemangioma]]
 |-
 | style="background:#DCDCDC;" align="center" + |IDH2
-|Maffucci syndrome
+|[[Maffucci syndrome]]
-Spindle-cell hemangioma
+[[Spindle-cell hemangioma]]
 |-
 | style="background:#DCDCDC;" align="center" + |KIF11
@@ Line 277: / Line 290: @@
 |-
 | style="background:#DCDCDC;" align="center" + |KRIT1
-|Cerebral cavernous malformation CCM1
+|[[Cerebral cavernous malformation]] [[CCM]]1
 |-
 | style="background:#DCDCDC;" align="center" + |Malcavernin
-|Cerebral cavernous malformation CCM2
+|[[Cerebral cavernous malformation]] [[CCM]]2
 |-
 | style="background:#DCDCDC;" align="center" + |MAP2K1
-|Arteriovenous malformation AVM (sporadic)
+|[[Arteriovenous malformation]] AVM (sporadic)
 |-
 | style="background:#DCDCDC;" align="center" + |MAP2K1
-|Ateriovenous fistula AVF (sporadic)
+|[[Ateriovenous fistula]] [[AVF]] (sporadic)
 |-
 | style="background:#DCDCDC;" align="center" + |MAP3K3
-|Verrucous venous malformation (somatic)
+|[[Verrucous venous malformation]] (somatic)
 |-
 | style="background:#DCDCDC;" align="center" + |MYC
-|Post radiation angiosarcoma
+|Post radiation [[angiosarcoma]]
 |-
 | style="background:#DCDCDC;" align="center" + |NPM11
-|Maffucci syndrome
+|[[Maffucci syndrome]]
 |-
 | style="background:#DCDCDC;" align="center" + |PDCD10
-|Cerebral cavernous malformation CCM3
+|[[Cerebral cavernous malformation]] [[CCM]]3
 |-
 | style="background:#DCDCDC;" align="center" + |PIK3CA
-|Common (cystic) LM (somatic)*
+|[[Common (cystic) LM]] (somatic)*
-Common VM (somatic)*
+[[Common VM]] (somatic)*
-Klippel-Trenaunay syndrome*
+[[Klippel-Trenaunay syndrome]]*
 Megalencephaly-capillary malformation-polymicrogyria (MCAP)*
-CLOVES syndrome*
+[[CLOVES syndrome]]*
-CLAPO syndrome*
+[[CLAPO syndrome]]*
-Fibro adipose vascular anomaly FAVA
+[[Fibro adipose vascular anomaly]] [[FAVA]]
 |-
 | style="background:#DCDCDC;" align="center" + |PTEN
-|Bannayan-Riley-Ruvalcaba syndrome
+|[[Bannayan-Riley-Ruvalcaba syndrome]]
-PTEN (type) Hamartoma of soft tissue / "angiomatosis" of soft  tissue
+PTEN (type) Hamartoma of soft tissue / [["angiomatosis" of soft  tissue]]
 |-
 | style="background:#DCDCDC;" align="center" + |PTPN14
-|Lymphedema-choanal atresia
+|[[Lymphedema-choanal atresia]]
 |-
 | style="background:#DCDCDC;" align="center" + |RASA1
 |CM-AVM1
-Parkes Weber syndrome
+[[Parkes Weber syndrome]]
 |-
 | style="background:#DCDCDC;" align="center" + |SMAD4
-|Telangiectasia, AVM and AVF of Juvenile polyposis hemorrhagic telangiectasia JPHT
+|[[Telangiectasia]], [[AVM]] and [[AVF]] of [[Juvenile polyposis hemorrhagic telangiectasia]] JPHT
 |-
 | style="background:#DCDCDC;" align="center" + |SOX18
-|Hypotrichosis-lymphedema-telangiectasia
+|[[Hypotrichosis-lymphedema-telangiectasia]]
 |-
 | style="background:#DCDCDC;" align="center" + |STAMBP
@@ Line 335: / Line 348: @@
 |-
 | style="background:#DCDCDC;" align="center" + |TEK (TIE2)
-|Common VM (somatic)
+|[[Common VM]] (somatic)
-Familial VM cutaneo-mucosal VMCM
+[[Familial VM cutaneo-mucosal]] [[VMCM]]
-Blue rubber bleb nevus (Bean) syndrome (somatic)
+[[Blue rubber bleb nevus (Bean) syndrome]] (somatic)
 |-
 | style="background:#DCDCDC;" align="center" + |TFE3
-|Epithelioid hemangioendothelioma EHE
+|[[Epithelioid hemangioendothelioma]] EHE
 |-
 | style="background:#DCDCDC;" align="center" + |VEGFC
-|Primary hereditary lymphedema
+|[[Primary hereditary lymphedema]]
 |-
 | style="background:#DCDCDC;" align="center" + |VEGFR3
-|Nonne-Milroy syndrome (gene also named FLT4)
+|[[Nonne-Milroy syndrome]] (gene also named FLT4)
 |-
 | colspan="2" style="background:#DCDCDC;" + |<sup>*</sup>Some of these lesions, associated with overgrowth, belong to the PIK3CA related overgrowth spectrum PROS
+|-
+| colspan="2" style="background:#7d7d7d; color: #FFFFFF;" + |<small>'''Adapted from International Society for the Study of Vascular Anomalies'''<ref name="urlClassification | International Society for the Study of Vascular Anomalies">{{cite web |url=http://www.issva.org/classification |title=Classification &#124; International Society for the Study of Vascular Anomalies |format= |work= |accessdate=}}</ref></small>
 |}
-==Provisionally unclassified vascular anomalies==
+==Vascular anomalies possibly associated with platelet count / coagulation disorders==
-===Intramuscular hemangioma===
+{| class="wikitable"
-* Characterized by [[benign]] proliferation of [[vascular]] channels. Majority of [[lesions]] occur in [[subcutaneous]] [[adipose]] [[tissues]], followed by [[muscles]]. [[Thigh]] and [[calf]] are most common sites of occurrence. Majority of the [[lesions]] are [[asymptomatic]]. Typical clinical presentation includes chronic pain and swelling that both may increase with exercise of affected [[muscle]] due to increased [[blood]] flow. Other clinical manifestations may include pulsations, discoloration over the [[lesion]], [[lesion]] enlargement when in dependent position, increased temperature, [[muscle contracture]], tenderness, and [[muscle]] weakness and fatigue.<ref name="pmid25028288">{{cite journal |vauthors=Wang CS, Wu PK, Chiou HJ, Chen CF, Chen WM, Liu CL, Chen TH |title=Nonpalpable intramuscular hemangioma treated with hookwire localization and excision |journal=J Chin Med Assoc |volume=77 |issue=8 |pages=426–9 |date=August 2014 |pmid=25028288 |doi=10.1016/j.jcma.2014.02.017 |url=}}</ref><ref name="pmid25728120">{{cite journal |vauthors=Doddanna SJ, Dawar G, Rallan NS, Agarwal M |title=Intramuscular cavernous hemangioma: a rare entity in the buccinator muscle |journal=Indian J Dent Res |volume=25 |issue=6 |pages=813–5 |date=2014 |pmid=25728120 |doi=10.4103/0970-9290.152211 |url=}}</ref><ref name="pmid23845293">{{cite journal |vauthors=Righini CA, Berta E, Atallah I |title=Intramuscular cavernous hemangioma arising from the masseter muscle |journal=Eur Ann Otorhinolaryngol Head Neck Dis |volume=131 |issue=1 |pages=57–9 |date=February 2014 |pmid=23845293 |doi=10.1016/j.anorl.2013.03.003 |url=}}</ref><ref name="pmid25590509">{{cite journal |vauthors=Alami B, Lamrani Y, Addou O, Boubbou M, Kamaoui I, Maaroufi M, Sqalli N, Tizniti S |title=Presumptive intramuscular hemangioma of the masseter muscle |journal=Am J Case Rep |volume=16 |issue= |pages=16–9 |date=January 2015 |pmid=25590509 |pmc=4298281 |doi=10.12659/AJCR.890776 |url=}}</ref><ref name="pmid15155443">{{cite journal |vauthors=Brown RA, Crichton K, Malouf GM |title=Intramuscular haemangioma of the thigh in a basketball player |journal=Br J Sports Med |volume=38 |issue=3 |pages=346–8 |date=June 2004 |pmid=15155443 |pmc=1724833 |doi= |url=}}</ref><ref name="pmid28507959">{{cite journal |vauthors=Patnaik S, Kumar P, Nayak B, Mohapatra N |title=Intramuscular Arteriovenous Hemangioma of Thigh: A Case Report and Review of Literature |journal=J Orthop Case Rep |volume=6 |issue=5 |pages=20–23 |date=2016 |pmid=28507959 |pmc=5404154 |doi=10.13107/jocr.2250-0685.612 |url=}}</ref>
+|+
-* Intramuscular hemangiomas may be associated with [[Kasabach-Merritt syndrome]] characterized by [[thrombocytopenia]] and/or consumptive [[coagulopathy]]. This [[lesion]] may also lead to functional impairment, [[congestive cardiac failure]] due to arteriovenous shunting, pressure symptoms, [[skin]] [[necrosis]] and may also erode [[bone]].<ref name="pmid15155443" />
+!style="background:#4479BA; color: #FFFFFF;" align="center" + |Anomalies
-* [[Etiology]] and [[pathophysiology]] are not clearly defined but majority of the [[lesions]] are congenital while a one fifth may be associated with trauma.<ref name="pmid24427416">{{cite journal |vauthors=Wierzbicki JM, Henderson JH, Scarborough MT, Bush CH, Reith JD, Clugston JR |title=Intramuscular hemangiomas |journal=Sports Health |volume=5 |issue=5 |pages=448–54 |date=September 2013 |pmid=24427416 |pmc=3752185 |doi=10.1177/1941738112470910 |url=}}</ref>
+!style="background:#4479BA; color: #FFFFFF;" align="center" + |Hematological disorders
-* [[MRI]] is the [[diagnostic]] study of choice although [[X-RAY]] and [[ultrasound]] may be used as initial studies. Treatment is generally not indicated for [[asymptomatic]] [[lesions]]. Management options for [[symptomatic]], complicated [[lesions]] and for cosmetic reasons may include [[laser ablation]], systemic [[corticosteroids]], [[cryotherapy]], [[embolization]], [[radiation]], compression [[sclerotherapy]], and [[surgical excision]] although surgical excision is usually treatment of choice in majority of the cases.<ref name="pmid24427416" /><ref name="pmid15155443" /><ref name="pmid28507959" /><ref name="pmid25028288" /><ref name="pmid25728120" /><ref name="pmid23845293" /><ref name="pmid25590509" />
+|-
+|[[Tufted angioma]]
+[[Kaposiform hemangioendothelioma]]
+|Profound and sustained thrombocytopenia with profound
+hypofibrinogenemia, consumptive coagulopathy and
-===Angiokeratoma===
+elevated D-dimer (Kasabach-Merritt phenomenon)
-* A [[muco-cutaneous]] [[vascular]] [[lesion]] with wart-like papular appearance characterized by dilated [[capillaries]] in the [[dermis]] and [[hyperkeratotis]] of the overlying [[epidermis]]. Clinically it may manifest as solitary or multiple hyperkeratotic papules that may be localized or generalized, most typically on [[scrotum]], [[thighs]], lower extremity, [[abdomen]], [[trunk]], [[tongue]], [[penis]] and [[labia majora]]. Majority of the [[lesions]] are [[asymptomatic]] but some may ulcerate and/or bleed.<ref name="pmid25100920">{{cite journal |vauthors=Hussein RS, Kfoury H, Al-Faky YH |title=Eyelid angiokeratoma |journal=Middle East Afr J Ophthalmol |volume=21 |issue=3 |pages=287–8 |date=2014 |pmid=25100920 |pmc=4123288 |doi=10.4103/0974-9233.134702 |url=}}</ref><ref name="pmid16988295">{{cite journal |vauthors=Trickett R, Dowd H |title=Angiokeratoma of the scrotum: a case of scrotal bleeding |journal=Emerg Med J |volume=23 |issue=10 |pages=e57 |date=October 2006 |pmid=16988295 |pmc=2579622 |doi=10.1136/emj.2006.038745 |url=}}</ref><ref name="pmid26155544">{{cite journal |vauthors=Chowdappa V, Narasimha A, Bhat A, Masamatti SS |title=Solitary Angiokeratoma: Report of Two Uncommon Cases |journal=J Clin Diagn Res |volume=9 |issue=5 |pages=WD01–2 |date=May 2015 |pmid=26155544 |pmc=4484136 |doi=10.7860/JCDR/2015/12163.5946 |url=}}</ref>
+|-
-* It may be classified into following entities:<ref name="pmid26155544" />
+|[[Rapidly involuting congenital hemangioma]]
-** Fordyce’s angiokeratoma (arising on the genitals)
+|Transient mild/moderate thrombocytopenia, +/-
-** Mibelli’s angiokeratoma (dorsum of toes and fingers)
+consumptive coagulopathy and elevated D-dimer
-** Angiokeratoma circumscriptum naeviforme (unilateral large keratotic plaques)
+|-
-** Angiokeratoma corporis diffusum (ACD) (generalized [[lesions]] between umbilicus and the knee)
+|[[Venous malformations]] /
-* Angiokeratomas are more prevalent among [[males]] as compared to [[females]]. Increased [[venous]] pressure and [[radiation]] therapy have been cited as possible causes. Angiokeratomas have been associated with [[enzyme]] deficiencies such as  alpha-galactosidase A ([[Fabry disease]]), α-fucosidase (fucosidosis), neuraminidase (sialodosis), aspartyl glycosaminase (aspartyl glucosaminuria), β-mannosidase (β- mannosidosis), α-N-acetyl galactosaminidase (Kansaki disease), and β-galactosidase (adult onset GM1 gangliosidosis).<ref name="pmid26155544" /><ref name="pmid25100920" /><ref name="pmid16988295" /><ref name="pmid26312700">{{cite journal |vauthors=Ghosh SK, Ghosh S, Agarwal M |title=Multiple giant angiokeratoma of Fordyce on the shaft of the penis masquerading as keratoacanthoma |journal=An Bras Dermatol |volume=90 |issue=3 Suppl 1 |pages=150–2 |date=2015 |pmid=26312700 |pmc=4540534 |doi=10.1590/abd1806-4841.20153876 |url=}}</ref><ref name="pmid19468654">{{cite journal |vauthors=Rees R, Freeman A, Malone P, Garaffa G, Muneer A, Minhas S |title=Case study: the surgical management of angiokeratoma resulting from radiotherapy for penile cancer |journal=ScientificWorldJournal |volume=9 |issue= |pages=339–42 |date=May 2009 |pmid=19468654 |pmc=5823195 |doi=10.1100/tsw.2009.23 |url=}}</ref>
+Lymphatic-venous malformations
-* The [[diagnosis]] is mainly clinical but [[biopsy]] may be required. Associated [[enzyme]] deficiencies and systemic disorders must be ruled out. Treatment is generally not indicated but if so required then [[excision]], [[electrocautery]], [[cryotherapy]], or [[laser ablations]] are the options.<ref name="pmid25100920" /><ref name="pmid19468654" /><ref name="pmid26155544" /><ref name="pmid25118768">{{cite journal |vauthors=Vijay MK, Arava S |title=Solitary angiokeratoma of tongue: a rare entity clinically mistaken as a malignant tumor |journal=Indian J Pathol Microbiol |volume=57 |issue=3 |pages=510–1 |date=2014 |pmid=25118768 |doi=10.4103/0377-4929.138810 |url=}}</ref><ref name="pmid26312700" />
+|Chronic localized intravascular coagulopathy with
+elevated D-dimer, +/- hypofibrinogenemia, and +/-
-===Sinusoidal hemangioma===
+moderate thrombocytopenia (may progress to DIC
-* A variant of [[cavernous hemangioma]] characterized histopathologically by presence of dilated thin-walled [[vascular]] channels, that vary in size, exhibiting nodular proliferation with sinusoidal arrangement.  [[Pseudopapillary]] structures may also be present. Clinically majority of the [[lesions]] manifest in [[female]] [[adults]] as single, well-defined, painless, [[subcutaneous]] nodule with bluish color. Most frequent locations are [[trunk]], [[extremities]] and [[breasts]]. Painless swelling is the most common [[patient]] complaint.<ref name="pmid24250102">{{cite journal |vauthors=Halawar SS, Venugopal R, Varsha B, Kavya B |title=Intramuscular sinusoidal hemangioma with Masson's lesion |journal=J Oral Maxillofac Pathol |volume=17 |issue=2 |pages=315–7 |date=May 2013 |pmid=24250102 |pmc=3830250 |doi=10.4103/0973-029X.119762 |url=}}</ref><ref name="pmid21892538">{{cite journal |vauthors=Ciurea M, Ciurea R, Popa D, Pârvănescu H, Marinescu D, Vrabete M |title=Sinusoidal hemangioma of the arm: case report and review of literature |journal=Rom J Morphol Embryol |volume=52 |issue=3 |pages=915–8 |date=2011 |pmid=21892538 |doi= |url=}}</ref>
-* Abnormalities of [[vasculogenesis]] and [[angiogenesis]] have been proposed as possible [[pathogenesis]] but it is not well-established.<ref name="pmid21892538" />
-* Combination of clinical manifestations and histopathological features is used for [[diagnosis]]. [[Surgery]] (wide excision of tumor) is the treatment of choice if treatment is required.<ref name="pmid21892538" /><ref name="pmid26729822">{{cite journal |vauthors=Konda P, Bavle RM, Makarla S, Muniswamappa S |title=Intramuscular sinusoidal haemangioma with secondary Masson's phenomenon |journal=BMJ Case Rep |volume=2016 |issue= |pages= |date=January 2016 |pmid=26729822 |pmc=4716435 |doi=10.1136/bcr-2013-201457 |url=}}</ref>
-===Acral arteriovenous "tumour"===
+after trauma or operation)
-* [[Congenital]] or acquired lesion manifesting clinically as [[asymptomatic]] mass or may present with pulsatile swelling, headache, localized throbbing pain, [[tinnitus]] and bleeding. Histopathologically they are characterized by [[arterio-venous]] connection without connecting [[capillary]] with or without intracranial component. The [[lesion]] derived its name from its acral distribution.<ref name="pmid25624933">{{cite journal |vauthors=Gupta R, Kayal A |title=Scalp arteriovenous malformations in young |journal=J Pediatr Neurosci |volume=9 |issue=3 |pages=263–6 |date=2014 |pmid=25624933 |pmc=4302550 |doi=10.4103/1817-1745.147587 |url=}}</ref><ref name="pmid29492122">{{cite journal |vauthors=Özkara E, Özbek Z, Özdemir AÖ, Arslantaş A |title=Misdiagnosed Case of Scalp Arteriovenous Malformation |journal=Asian J Neurosurg |volume=13 |issue=1 |pages=59–61 |date=2018 |pmid=29492122 |pmc=5820896 |doi=10.4103/1793-5482.181137 |url=}}</ref>
+|-
-* [[Etiology]] can be classified as following: [[Congenital]], traumatic, infectious and inflammatory and [[familial]].<ref name="pmid25624933" />
+|[[Lymphatic malformations]]
-* Although [[diagnosis]] can be made clinically, [[angiography]] is the gold standard [[diagnostic]] modality to [[diagnose]] and define the extent of the [[lesion]]. Management regimen may include [[surgical excision]], [[ligation]] of the supplying [[arteries]], [[embolization]], and intralesional [[sclerosing]] injection.<ref name="pmid29492122" />
+|Chronic localized intravascular coagulopathy with
+elevated D-dimer and +/- mild to moderate
-===Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT)===
+thrombocytopenia
-* Rare [[congenital]] disorder characterized by proliferation of [[vascular]] channels in multiple [[organs]] associated with [[thrombocytopenia]] of variable degree. [[Lesions]] may manifest themselves on [[skin]], [[gastrointestinal tract]], [[lungs]], [[brain]], [[bone]], [[liver]], [[spleen]] and [[muscles]]. Majority of [[cutaneous]] [[lesions]] present as multiple red to blue papules, plaques, nodules on [[trunk]] and [[extremities]]. [[Gastrointestinal]] bleeding due to multiple [[hemorrhagic]] [[lesions]] is the cause of mortality in majority of the [[patients]]. Similar [[lesions]] in [[brain]] and [[lungs]] may cause severe [[cerebral edema]] and [[pulmonary hemorrhage]].<ref name="pmid26148948">{{cite journal |vauthors=Droitcourt C, Boccara O, Fraitag S, Favrais G, Dupuy A, Maruani A |title=Multifocal Lymphangioendotheliomatosis With Thrombocytopenia: Clinical Features and Response to Sirolimus |journal=Pediatrics |volume=136 |issue=2 |pages=e517–22 |date=August 2015 |pmid=26148948 |doi=10.1542/peds.2014-2410 |url=}}</ref><ref name="pmid22565464">{{cite journal |vauthors=Zegpi MS, Zavala A, del Puerto C, Cárdenas C, González S |title=Newborn with multifocal lymphangioendotheliomatosis with thrombocytopenia |journal=Indian J Dermatol Venereol Leprol |volume=78 |issue=3 |pages=409 |date=2012 |pmid=22565464 |doi=10.4103/0378-6323.95494 |url=}}</ref>
-* Disease may manifest without [[cutaneous]] involvement or [[thrombocytopenia]]. [[Biopsy]] typically reveals proliferation of well differentiated [[vascular]] channels with intravascular [[papillary]] structure and thrombi, sometimes with hobnail appearance of lining [[endothelial cells]].<ref name="pmid26148948" /><ref name="pmid22565464" />
-* [[Biopsy]] followed by histopathological and [[immunohistochemical]] are required for [[diagnosis]]. Management is not well-established and disorder has a poor [[prognosis]] with high mortality. Recently [[sirolimus]] and [[bevacizumab]] have been used to treat this diorder with some success.<ref name="pmid26148948" /><ref name="pmid22565464" /><ref name="pmid19101995">{{cite journal |vauthors=Kline RM, Buck LM |title=Bevacizumab treatment in multifocal lymphangioendotheliomatosis with thrombocytopenia |journal=Pediatr Blood Cancer |volume=52 |issue=4 |pages=534–6 |date=April 2009 |pmid=19101995 |doi=10.1002/pbc.21860 |url=}}</ref><ref name="pmid27282436">{{cite journal |vauthors=Lanöel A, Torres Huamani AN, Feliú A, Sala MJ, Alvarez M, Cervini AB |title=Multifocal Lymphangioendotheliomatosis with Thrombocytopenia: Presentation of Two Cases Treated with Sirolimus |journal=Pediatr Dermatol |volume=33 |issue=4 |pages=e235–9 |date=July 2016 |pmid=27282436 |doi=10.1111/pde.12879 |url=}}</ref>
-===Fibro adipose vascular anomaly (FAVA)===
+(consider [[Kaposiform lymphangiomatosis]])
-* [[Vascular]] [[disorder]] typically manifesting as infiltration of [[muscles]] by fibrofatty tissues, atypical [[venodilation]] associated with localized pain, and contracture of the affected [[muscles]]. Majority of the [[lesions]] involve [[calf]] [[muscles]] and may present as painful mass, [[contracture]] of the [[extremity]], and decreased dorsiflexion at ankle joint. [[Skin]] is not typically involved. Histological studies demonstrates fibrous and [[adipose tissue]] and congregations of [[venous]] channels with abnormal [[lymphatic]] component.<ref name="pmid25298836">{{cite journal |vauthors=Fernandez-Pineda I, Marcilla D, Downey-Carmona FJ, Roldan S, Ortega-Laureano L, Bernabeu-Wittel J |title=Lower Extremity Fibro-Adipose Vascular Anomaly (FAVA): A New Case of a Newly Delineated Disorder |journal=Ann Vasc Dis |volume=7 |issue=3 |pages=316–9 |date=2014 |pmid=25298836 |pmc=4180696 |doi=10.3400/avd.cr.14-00049 |url=}}</ref><ref name="pmid24322574">{{cite journal |vauthors=Alomari AI, Spencer SA, Arnold RW, Chaudry G, Kasser JR, Burrows PE, Govender P, Padua HM, Dillon B, Upton J, Taghinia AH, Fishman SJ, Mulliken JB, Fevurly RD, Greene AK, Landrigan-Ossar M, Paltiel HJ, Trenor CC, Kozakewich HP |title=Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity |journal=J Pediatr Orthop |volume=34 |issue=1 |pages=109–17 |date=January 2014 |pmid=24322574 |doi=10.1097/BPO.0b013e3182a1f0b8 |url=}}</ref>
-* [[Somatic]] activating [[mutations]] in PIK3CA that encodes phosphatidylinositol 3-kinase (PI3K), an [[enzyme]] functioning in cell growth, proliferation, differentiation, and survival.<ref name="urlwww.issva.org">{{cite web |url=http://www.issva.org/UserFiles/file/ISSVA-Classification-2018.pdf |title=www.issva.org |format= |work= |accessdate=}}</ref>
-* Clinical and [[radiological]] findings are often sufficient to form the [[diagnosis]]. Inconclusive cases my require [[biopsy]]. [[Surgical resection]] is the often the preferred treatment and is more effective than [[sclerotherapy]], the alternative therapy.<ref name="pmid25298836" /><ref name="pmid24322574" />
-==Vascular malformations associated with other anomalies==
-===Klippel-Trenaunay syndrome===
-* First described by Klippel and Trenaunay in 1900, this [[congeital syndrome]] is characterized by presence of [[capillary malformations]], [[venous malformations]], and [[soft tissues]] and [[bone]] [[hypertrophy]]. [[Lymphatic malformations]] may or may not be present. [[Capillary malformations]] typically present in form of [[capillary hemangioma]] and can occur anywhere on the [[body]] while [[venous]] and [[lymphatic malformations]], and [[soft tissue]] and [[bone]] [[hypertrophy]] usually involves the [[extremities]].<ref name="pmid26451379">{{cite journal |vauthors=Abdolrahimzadeh S, Scavella V, Felli L, Cruciani F, Contestabile MT, Recupero SM |title=Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions? |journal=Biomed Res Int |volume=2015 |issue= |pages=786519 |date=2015 |pmid=26451379 |pmc=4588354 |doi=10.1155/2015/786519 |url=}}</ref><ref name="pmid25427442">{{cite journal |vauthors=Withana M, Rodrigo C, Shivanthan MC, Warnakulasooriya S, Wimalachandra M, Gooneratne L, Rajapakse S |title=Klippel-Trenaunay syndrome presenting with acanthocytosis and splenic and retroperitoneal lymphangioma: a case report |journal=J Med Case Rep |volume=8 |issue= |pages=390 |date=November 2014 |pmid=25427442 |pmc=4289367 |doi=10.1186/1752-1947-8-390 |url=}}</ref><ref name="pmid25293688">{{cite journal |vauthors=Ricks CB, Grandhi R, Ducruet AF |title=Klippel-Trenaunay syndrome and cavernous malformations |journal=BMJ Case Rep |volume=2014 |issue= |pages= |date=October 2014 |pmid=25293688 |pmc=4187537 |doi=10.1136/bcr-2014-207486 |url=}}</ref><ref name="pmid28458832">{{cite journal |vauthors=Baba A, Yamazoe S, Okuyama Y, Shimizu K, Kobashi Y, Nozawa Y, Munetomo Y, Mogami T |title=A rare presentation of Klippel-Trenaunay syndrome with bilateral lower limbs |journal=J Surg Case Rep |volume=2017 |issue=2 |pages=rjx024 |date=February 2017 |pmid=28458832 |pmc=5400491 |doi=10.1093/jscr/rjx024 |url=}}</ref><ref name="pmid27921060">{{cite journal |vauthors=Tetangco EP, Arshad HM, Silva R |title=Klippel-Trenaunay Syndrome of the Rectosigmoid Colon Presenting as Severe Anemia |journal=ACG Case Rep J |volume=3 |issue=4 |pages=e161 |date=August 2016 |pmid=27921060 |pmc=5126491 |doi=10.14309/crj.2016.134 |url=}}</ref>
-* Clinical manifestations are unilateral in 85% of the cases and may include localized pain and discomfort, leg length discrepancy due to [[hemihypertrophy]], [[developmental delay]], limb abnormalities such as polydactyly, macrodactyly, syndactyly, [[thrombophlebitis]], [[osteomyelitis]], pathological [[fractures]], [[heart failure]], [[erysipelas]], [[venous thrombosis]] due to [[malformations]], [[pulmonary embolism]], [[gastrointestinal]] bleeding due to venous overload in the internal iliac vein and ophthalmic abnormalities such as [[telangiectasia]], orbital varix, [[strabismus]], oculosympathetic palsy, [[Marcus-Gunn pupil]], [[iris coloboma]] and heterochromia, [[cataracts]], persistent fetal vasculature and [[varicosities]].<ref name="pmid28458832" /><ref name="pmid27921060" /><ref name="pmid25293688" /><ref name="pmid29930667">{{cite journal |vauthors=Chagas CAA, Pires LAS, Babinski MA, Leite TFO |title=Klippel-Trenaunay and Parkes-Weber syndromes: two case reports |journal=J Vasc Bras |volume=16 |issue=4 |pages=320–324 |date=2017 |pmid=29930667 |pmc=5944310 |doi=10.1590/1677-5449.005417 |url=}}</ref>
-* [[Etiology]] and [[pathogenesis]] have not been established yet. Some suggestions include PIK3CA mutations, [[polygenic]] [[inheritance]], VG5Q mutation and obstruction of the [[venous]] system.<ref name="pmid26451379" /><ref name="pmid28458832" /><ref name="pmid29930667" />
-* [[Diagnosis]] can be made on clinical manifestations and can be confirmed by [[Doppler ultrasound]] and [[magnetic resonance angiography]]. Management depends on clinical manifestations.<ref name="pmid28458832" /><ref name="pmid29930667" /><ref name="pmid25293688" /><ref name="pmid28458832" />
-===Parkes Weber syndrome===
+(may progress to DIC after trauma or operation)
-*  Characterized by a [[cutaneous]] flush with underlying multiple micro-AVFs ([[arteriovenous]] fistulas), in association with [[soft tissue]] and skeletal hypertrophy of the affected limb. Clinical Presentation enlarged [[arteries]] and [[veins]], [[capillary]] or [[venous]] [[malformations]], [[cutaneous]] blush, [[arteriovenous fistulas]], and enlargement of [[limb]].
+|-
-* Mutation in the RASA1 gene has been found to be associated with this syndrome.
+|[[Multifocal lymphangioendotheliomatosis with thrombocytopenia]] /
-* To learn more about Parkes Weber syndrome, click here.
-===Servelle-Martorell syndrome===
+[[Cutaneovisceral angiomatosis with thrombocytopenia]]
-* Also called [[phlebectatic osteohypoplastic angiodysplasia]], this rare [[syndrome]] is characterized by [[venous malformations]] such as abnormal location of [[vein]], partial or complete absence of valves, and/or venous [[hypoplasia]] or [[aplasia]] and undergrowth of [[bone]]. These abnormalities may also be associated with [[limb hypertrophy]] and [[arterial malformations]].<ref name="pmid18454870">{{cite journal |vauthors=Karuppal R, Raman RV, Valsalan BP, Gopakumar Ts, Kumaran CM, Vasu CK |title=Servelle-Martorell syndrome with extensive upper limb involvement: a case report |journal=J Med Case Rep |volume=2 |issue= |pages=142 |date=May 2008 |pmid=18454870 |pmc=2394530 |doi=10.1186/1752-1947-2-142 |url=}}</ref>
+|Sustained, fluctuating, moderate to profound
-* Clinical manifestations may include [[cutaneous]] compressible [[lesions]] due to [[malformations]], [[cellulitis]], [[lesion]] limb shortening, [[joint]] and [[soft tissue]] pain and swelling, tortuous [[limbs]], reduced [[muscle]] mass, [[venous thrombosis]], consumption [[coagulopathy]], pathological [[fractures]] and [[bone]] tenderness.<ref name="pmid18454870" />
+thrombocytopenia with gastrointestinal tract bleeding or
-* Combination of clinical and [[radiological]] findings is used to form the  [[diagnosis]], [[MRI]] can assess the involvement and extent of [[lesions]]. Treatment is mainly conservative with [[surgery]] being used in some cases to excise and/or correct [[malformations]].<ref name="pmid18454870" /><ref name="pmid6284617">{{cite journal |vauthors=Langer M, Langer R |title=[Radiologic aspects of the congenital arteriovenous malformations, Klippel-Trenaunay type, and Servelle-Martorell type (author's transl)] |language=German |journal=Rofo |volume=136 |issue=5 |pages=577–82 |date=May 1982 |pmid=6284617 |doi=10.1055/s-2008-1056105 |url=}}</ref>
-===Sturge-Weber syndrome===
+pulmonary hemorrhage
-* [[Congenital]] [[syndrome]] characterized by [[capillary malformations]] involving [[face]] and laptomeninges and [[eye]] abnormalities. There may also be bone and/or overgrowth.
+|-
-* Clinical manifestations may include [[seizures]], [[port-wine stain]] on the forehead and upper [[eyelid]] of one side of the [[face]],  [[muscle]] weakness, [[developmental delays]] and [[mental retardation]], [[glaucoma]], and [[buphthalmos]].
+|[[Kaposiform lymphangiomatosis]]
-* Associated with [[mutations]] in GNAQ [[gene]] that encodes for members of [[G protein]] family.
+|Mild/moderate thrombocytopenia, +/-
-* To learn more about Sturge-Weber syndrome, click here.
+hypofibrinogenemia, and D-dimer elevation
+|-
-===Maffucci syndrome===
+| colspan="2" style="background:#7d7d7d; color: #FFFFFF;" + |<small>'''Adapted from International Society for the Study of Vascular Anomalies'''<ref name="urlClassification | International Society for the Study of Vascular Anomalies">{{cite web |url=http://www.issva.org/classification |title=Classification &#124; International Society for the Study of Vascular Anomalies |format= |work= |accessdate=}}</ref></small>
-* A rare [[disorder]] characterized by presence of [[venous malformations]] associated with multiple [[enchondromas]], benign [[cartilage]]-forming [[tumors]], and multiple [[soft tissue]] [[hemangiomas]] and [[lymphangiomas]]. These benign [[tumors]] have tendency to undergo [[malignant]] [[transformation]] in [[maffuci syndrome]]. People with [[maffuci syndrome]] are also at increased risk of developing other [[malignant]] [[tumors]] such as [[glioma]], [[glioblastoma]], [[acute myeloid leukemia]], intrahepatic [[cholangiocarcinomas]], [[hepatocellular carcinoma]], [[pancreatic]], and [[breast]] [[malignancies]]. Clinical manifestations depend on the coexisting [[lesions]].<ref name="pmid25777744">{{cite journal |vauthors=McCarthy CM, Blecher H, Reich S |title=A case of myelopathy because of enchondromas from Maffucci syndrome with successful surgical treatment |journal=Spine J |volume=15 |issue=6 |pages=e15–9 |date=June 2015 |pmid=25777744 |doi=10.1016/j.spinee.2015.03.006 |url=}}</ref><ref name="pmid26628708">{{cite journal |vauthors=Tsao YP, Tsai CY, Chen WS |title=Maffucci Syndrome |journal=J. Rheumatol. |volume=42 |issue=12 |pages=2434–5 |date=December 2015 |pmid=26628708 |doi=10.3899/jrheum.150216 |url=}}</ref><ref name="pmid26920730">{{cite journal |vauthors=Prokopchuk O, Andres S, Becker K, Holzapfel K, Hartmann D, Friess H |title=Maffucci syndrome and neoplasms: a case report and review of the literature |journal=BMC Res Notes |volume=9 |issue= |pages=126 |date=February 2016 |pmid=26920730 |pmc=4769492 |doi=10.1186/s13104-016-1913-x |url=}}</ref>
+|}
-* [[Mutations]] in isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2), [[enzymes]] involved in metabolism of isocitrate and α-ketoglutarate, and [[TP53]], a [[cell-cycle]] regulator, have been found in [[tumors]] in [[maffuci syndrome]].<ref name="pmid24344754">{{cite journal |vauthors=Moriya K, Kaneko MK, Liu X, Hosaka M, Fujishima F, Sakuma J, Ogasawara S, Watanabe M, Sasahara Y, Kure S, Kato Y |title=IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome |journal=Cancer Sci. |volume=105 |issue=3 |pages=359–62 |date=March 2014 |pmid=24344754 |pmc=4317937 |doi=10.1111/cas.12337 |url=}}</ref><ref name="pmid22057234">{{cite journal |vauthors=Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV |title=Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome |journal=Nat. Genet. |volume=43 |issue=12 |pages=1256–61 |date=November 2011 |pmid=22057234 |pmc=3427908 |doi=10.1038/ng.1004 |url=}}</ref>
-* [[Patients]] should be evaluated to check for [[malignant]] [[transformation]]. Some recommend [[CT scans]] and [[PET scans]] at regular intervals.<ref name="pmid26920730" /><ref name="pmid26628708" /><ref name="pmid25537758">{{cite journal |vauthors=Al-Katib S, Al-Faham Z, Grant P, Palka JC |title=The Appearance of Maffucci Syndrome on 18F-FDG PET/CT |journal=J Nucl Med Technol |volume=43 |issue=2 |pages=131–2 |date=June 2015 |pmid=25537758 |doi=10.2967/jnmt.114.146480 |url=}}</ref><ref name="pmid26920730" />
-* To learn more about maffuci syndrome, click here.
-===CLOVES syndrome===
-* CLOVES is an acronym for [[congenital]] lipomatous overgrowth, [[vascular malformations]], [[epidermal nevi]], skeletal and spinal anomalies. [[Vascular malformations]] in this [[syndrome]] include [[venous]], [[capillary]] and [[lymphatic]] [[malformations]] with or without combined [[arteriovenous malformations]]. [[Pulmonary thromboembolism]] and [[respiratory]] failure are the cause of [[mortality]] in majority of the [[patients]]. Lipomatous and vascular abnormalities are often segmental and [[asymmetric]] in distribution and present typically on [[chest]] and [[abdominal wall]].<ref name="pmid25044986">{{cite journal |vauthors=Emrick LT, Murphy L, Shamshirsaz AA, Ruano R, Cassady CI, Liu L, Chang F, Sutton VR, Li M, Van den Veyver IB |title=Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes |journal=Am. J. Med. Genet. A |volume=164A |issue=10 |pages=2633–7 |date=October 2014 |pmid=25044986 |pmc=4496426 |doi=10.1002/ajmg.a.36672 |url=}}</ref><ref name="pmid25400966">{{cite journal |vauthors=Sarici D, Akin MA, Kurtoglu S, Tubas F, Sarici SU |title=A Neonate with CLOVES Syndrome |journal=Case Rep Pediatr |volume=2014 |issue= |pages=845074 |date=2014 |pmid=25400966 |pmc=4221976 |doi=10.1155/2014/845074 |url=}}</ref><ref name="pmid20537357">{{cite journal |vauthors=Alomari AI, Burrows PE, Lee EY, Hedequist DJ, Mulliken JB, Fishman SJ |title=CLOVES syndrome with thoracic and central phlebectasia: increased risk of pulmonary embolism |journal=J. Thorac. Cardiovasc. Surg. |volume=140 |issue=2 |pages=459–63 |date=August 2010 |pmid=20537357 |doi=10.1016/j.jtcvs.2010.04.023 |url=}}</ref><ref name="pmid25709171">{{cite journal |vauthors=Gopal B, Keshava SN, Selvaraj D |title=A rare newly described overgrowth syndrome with vascular malformations-Cloves syndrome |journal=Indian J Radiol Imaging |volume=25 |issue=1 |pages=71–3 |date=2015 |pmid=25709171 |pmc=4329693 |doi=10.4103/0971-3026.150166 |url=}}</ref>
-* Clinical and [[imaging]] findings may include swellings due to lipomatous growths, [[skin]] discoloration, [[port wine stain]], bilateral [[epidermal nevi]],leg length discrepancy, developmental limb anomalies such as increased gap between the first and second toes, [[hemorrhage]], [[seizures]], [[ascites]], [[pleural]] effusions, [[hypotension]], bilateral multicystic [[venous]] and [[lymphatic]] [[malformations]], [[chest]] wall [[venous]] dilatation, multiple [[congenital]] [[hemangiomas]], asymmetric [[septal hypertrophy]], [[renal]] hypoplasia, dislocated [[knees]], [[scoliosis]], and [[neural tube defect]].<ref name="pmid25044986" /><ref name="pmid25709171" /><ref name="pmid20537357" />
-* Activating mutations in PICK3CA [[gene]] that encodes part of PI3K has been thought to be associated with this [[syndrome]]. These mutations may help enable the cells to grow independent of [[growth factors]].<ref name="pmid25044986" /><ref name="pmid25400966" /><ref name="pmid22658544">{{cite journal |vauthors=Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML |title=Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome |journal=Am. J. Hum. Genet. |volume=90 |issue=6 |pages=1108–15 |date=June 2012 |pmid=22658544 |pmc=3370283 |doi=10.1016/j.ajhg.2012.05.006 |url=}}</ref>
-* This [[syndrome]] can be detected prenatally and its manifestations have been identified on prenatal [[ultrasound]] and fetal [[MRI]]. Treatment options include supportive management, [[surgical debulking]] and [[scletherapy]] but treatment is often complicated by severity of the disease resulting in [[anemia]], [[coagulopathy]] and poor wound healing.<ref name="pmid25044986" /><ref name="pmid25400966" />
-===Proteus syndrome===
-* [[Congenital]] [[syndrome]] characterized by asymmetric overgrowth of multiple [[tissues]] in [[limbs]], [[hamartomas]] and [[vascular]] [[lesions]] such as [[capillary malformations]], [[venous malformations]], [[lymphatic malformations]]. [[Cerebriform connective tissue nevi]], a [[pathognomonic]] [[lesion]] if present alone, are helpful in diagnosing [[Proteus syndrome]]. It may affect multiple [[organs]] such as [[eyes]], [[spleen]], [[liver]], [[thymus]], [[intestine]], and [[lungs]], and may cause [[facial dysmorphia]]. Some [[benign]] and [[malignant]] [[neoplasms]] such as [[testicular papillary adenocarcinoma]] and [[mesothelioma]].<ref name="pmid29166516">{{cite journal |vauthors=Rocha RCC, Estrella MPS, Amaral DMD, Barbosa AM, Abreu MAMM |title=Proteus syndrome |journal=An Bras Dermatol |volume=92 |issue=5 |pages=717–720 |date=2017 |pmid=29166516 |pmc=5674710 |doi=10.1590/abd1806-4841.20174496 |url=}}</ref><ref name="pmid28377973">{{cite journal |vauthors=El-Sobky TA, Elsayed SM, El Mikkawy DM |title=Orthopaedic manifestations of Proteus syndrome in a child with literature update |journal=Bone Rep |volume=3 |issue= |pages=104–108 |date=December 2015 |pmid=28377973 |pmc=5365241 |doi=10.1016/j.bonr.2015.09.004 |url=}}</ref><ref name="pmid25377688">{{cite journal |vauthors=Hannoush H, Sachdev V, Brofferio A, Arai AE, LaRocca G, Sapp J, Sidenko S, Brenneman C, Biesecker LG, Keppler-Noreuil KM |title=Myocardial fat overgrowth in Proteus syndrome |journal=Am. J. Med. Genet. A |volume=167A |issue=1 |pages=103–10 |date=January 2015 |pmid=25377688 |pmc=4275354 |doi=10.1002/ajmg.a.36773 |url=}}</ref>
-* Clinical manifestations and findings may include [[hemihypertrophy]], asymmetry of the limbs, [[scoliosis]], [[subcutaneous]] [[tumors]], [[soft tissues]] [[tumors]] such as [[lipoma]], limb abnormalities such as macrodactyly, hyperpigmented [[lesions]] on [[skin]], [[verrucous epidermal nevi]], [[lung]] diseases, [[pulmonary embolism]], [[venous thrombosis]],  [[glaucoma]], [[strabismus]], [[nystagmus]], [[pseudopapileudema]], [[cardiac defects]] such as ARVC, healed [[myocardial infarctions]], [[cardiomyopathies]], [[cardiac lipomas]], and [[central nervous system]] findings. These findings may be detected [[prenatally]] or at [[birth]] but majority of the [[patients]] present after 6 months of [[birth]].<ref name="pmid29166516" /><ref name="pmid28377973" /><ref name="pmid25377688" /><ref name="pmid24882963">{{cite journal |vauthors=Sarman ZS, Yuksel N, Sarman H, Bayramgurler D |title=Proteus syndrome: report of a case with developmental glaucoma |journal=Korean J Ophthalmol |volume=28 |issue=3 |pages=272–4 |date=June 2014 |pmid=24882963 |pmc=4038735 |doi=10.3341/kjo.2014.28.3.272 |url=}}</ref>
-* Somatic mutations in AKT1 [[gene]] that encodes [[proteins]] functioning in AKT/PI3K signaling pathway has been proposed to be the cause of this [[syndrome]]. This pathway functions in cell growth, differentiation and survival.<ref name="pmid25377688" /><ref name="pmid26657992">{{cite journal |vauthors=Lindhurst MJ, Yourick MR, Yu Y, Savage RE, Ferrari D, Biesecker LG |title=Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome |journal=Sci Rep |volume=5 |issue= |pages=17162 |date=December 2015 |pmid=26657992 |pmc=4675973 |doi=10.1038/srep17162 |url=}}</ref>
-* [[Diagnosis]] is based on clinical and [[radiological]] findings and must meet general and specific criteria. Management consists of clinical and psychological assistance. This may include [[orthopedic]] consultation to stop or delay bone growth, [[physical rehabilitation]], [[surgical correction]] of deformities such as [[scoliosis]], [[dermatology]] consultation fro skin [[lesions]], workup and followup for [[vein thrombosis]] and [[pulmonary embolism]], [[intervention]] for [[developmental delay]], and evaluation for associated [[neoplasms]] at regular intervals.<ref name="pmid29166516" /><ref name="pmid22876373">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Biesecker LG, Sapp JC |title= |journal= |volume= |issue= |pages= |date= |pmid=22876373 |doi= |url=}}</ref>
-* To learn more, click here.
-===Bannayan-Riley-Ruvalcaba syndrome===
-* An overgrowth [[syndrome]] characterized by [[vascular malformations]], macrocephaly, multiple [[benign]] [[neoplasm]] and [[pigmented]] [[lesions]] on the [[skin]]. Speckled [[pigmented]] macules on [[genitalia]] are one of the most significant [[diagnostic]] characteristics. People with this [[syndrome]] may have increased risk of developing [[neoplasms]] in many [[organs]] such as [[thyroid]], [[breasts]], and [[female genital tract]] although it has not been confirmed.<ref name="pmid24474112">{{cite journal |vauthors=Gontijo GM, Pinto CA, Rogatto SR, Cunha IW, Aguiar S, Alves CA |title=Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report |journal=An Bras Dermatol |volume=88 |issue=6 |pages=982–5 |date=2013 |pmid=24474112 |pmc=3900354 |doi=10.1590/abd1806-4841.20132730 |url=}}</ref><ref name="pmid24379037">{{cite journal |vauthors=Peiretti V, Mussa A, Feyles F, Tuli G, Santanera A, Molinatto C, Ferrero GB, Corrias A |title=Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome |journal=J Clin Res Pediatr Endocrinol |volume=5 |issue=4 |pages=261–5 |date=2013 |pmid=24379037 |pmc=3890226 |doi=10.4274/Jcrpe.984 |url=}}</ref><ref name="pmid26157835">{{cite journal |vauthors=Sagi SV, Ballard DD, Marks RA, Dunn KR, Kahi CJ |title=Bannayan Ruvalcaba Riley Syndrome |journal=ACG Case Rep J |volume=1 |issue=2 |pages=90–2 |date=January 2014 |pmid=26157835 |pmc=4435287 |doi=10.14309/crj.2014.11 |url=}}</ref>
-* Typical manifestations and findings may include  multiple [[lipomas]], [[hemangiomas]], [[intestinal hamartomatous polyposis]], [[vascular malformations]] such as [[arteriovenous malformations]] and [[capillary malformations]], [[developmental delay]], macrocephaly (>97 percentile), [[penile]] [[pigmented]] macules, thyroid abnormalities such as [[multinodular goiter]], [[thyroid]] [[adenoma]], differentiated [[non-medullary thyroid cancer]] and [[Hashimoto’s thyroiditis]], high-arched palate, protuberant frontal bone, [[hypertelorism]], [[strabismus]], [[macrosomia]], [[hypotonia]], joint hyperextensibility, [[hypoglycemia]], [[convulsions]], [[café-au-lait spots]], prominent forehead, malar hypoplasia and  [[micrognathia]].<ref name="pmid24474112" /><ref name="pmid24379037" /><ref name="pmid26157835" />
-* [[Mutations]] in PTEN [[gene]] have been thought to be the cause. This [[gene]] encodes an [[enzyme]] that acts as [[tumor]] suppressor by stopping [[cell division]] and inducing [[apoptosis]]. Both autosomal-dominant transmission and sporadic occurrence have been reported.<ref name="pmid24474112" />
-* [[Diagnosis]] is based on clinical findings, the most important of these findings being [[penile pigmented maculae]], [[hamartomatous intestinal polyposis]] and macrocephaly. Management consists of psycho-social counseling and treatment of manifestations such as [[surgical]] and [[dermatological]] interventions, [[spinal stimulation]] for intractable gastrointestinal pain and screening for [[[malignancies]] associated with PTEN mutations such as annual [[thyroid]] [[ultrasound]] and [[mammography]].<ref name="pmid24474112" /><ref name="pmid26157835" />
-* To learn more, click here.
-===CLAPO syndrome===
-* CLAPO [[syndrome]], a [[syndrome]] that has been diagnosed in 6 patients) is acronym for [[capillary malformation]] of the lower lip, [[lymphatic malformations]] of the [[face]] and [[neck]], asymmetry, and partial or generalized overgrowth. Manifestations may include [[cutaneous]] [[lesions]] on [[head and neck]] and asymmetrical overgrowth.<ref name="pmid29766551">{{cite journal |vauthors=Downey C, López-Gutiérrez JC, Roé-Crespo E, Puig L, Baselga E |title=Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of CLAPO syndrome |journal=Pediatr Dermatol |volume=35 |issue=4 |pages=e243–e244 |date=July 2018 |pmid=29766551 |doi=10.1111/pde.13514 |url=}}</ref><ref name="pmid29446767">{{cite journal |vauthors=Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V |title=CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype |journal=Genet. Med. |volume=20 |issue=8 |pages=882–889 |date=August 2018 |pmid=29446767 |doi=10.1038/gim.2017.200 |url=}}</ref>
-* Somatic activating  PIK3CA [[mutations]] have been found in [[patients]] with CLAPO [[syndrome]]. This [[gene]] encodes [[proteins]] that function in [[cell-signaling]] pathways.<ref name="pmid29766551" /><ref name="pmid29446767" />
 ==See also==
 * [[Vascular disease]]