Vascular anomalies

Vascular Anomalies
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Classification Vascular Tumors Vascular Malformations Provisionally Unclassified Vascular Anomalies
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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
	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

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

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 sd 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

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

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

In CM-AVM

CM of CM-AVM

Channel type LM

Glomuvenous malformation (GVM)

Others

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.

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.

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

Abbreviations used

AST	angiomatosis of soft tissue
AVF	arteriovenous fistula
AVM	arteriovenous malformation
CAT	cutaneovisceral angiomatosis with thrombocytopenia
CAVM	capillary arteriovenous malformation
CCM	cerebral cavernous malformation
CLAVM	capillary lymphatic arteriovenous malformation
CLAPO	lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth
CLOVES	congenital lipomatous overgrowth, vascular malformations, epidermal nevi, skeletal/scoliosis and spinal abnormalities
CLM	capillary lymphatic malformation
CLVAVM	capillary lymphatic venous arteriovenous malformation
CLVM	capillary lymphatic venous malformation
CM	capillary malformation
CM-AVM	capillary malformation-arteriovenous malformation
CMTC	cutis marmorata telangiectatica congenita
CNS	central nervous system
CVAVM	capillary venous arteriovenous malformation
CVM	capillary venous malformation
DCMO	diffuse capillary malformation with overgrowt
DIC	disseminated intravascular coagulopathy
FAVA	Fibro adipose vascular anomaly
GLA	generalized lymphatic anomaly
GSD	Gorham-Stout disease
GVM	glomuvenous malformation
HHT	hereditary hemorrhagic telangiectasia
HI	hemangioma of infancy / infantile hemangioma
IH	infantile hemangioma / hemangioma of infancy
INR	international normalized ratio
JPHT	juvenile polyposis hemorrhagic telangiectasia
KHE	kaposiform hemangioendothelioma
KLA	kaposiform lymphangiomatosis
KMP	Kasabach-Merritt phenomenon
LM	lymphatic malformation
LVM	lymphatic venous malformation
MCAP	megalencephaly-capillary malformation-polymicrogyria
M-CM	macrocephaly-capillary malformation
MICCAP	microcephaly-capillary malformation
MLT	Multifocal lymphangioendotheliomatosis with thrombocytopenia
NICH	non-involuting congenital hemangioma
PHACE	posterior fossa malformations, hemangioma, arterial anomalies, cardiovascular anomalies, eye anomalies
PHOST	PTEN hamartoma of soft tissue
PILA	papillary intralymphatic angioendothelioma
PICH	partially involuting congenital hemangioma
PROS	PIK3CA-related overgrowth spectrum
RICH	rapidly involuting congenital hemangioma
TA	tufted angioma
VM	venous malformation
VMCM	venous malformation cutaneo mucosal

See also

• Vascular disease
• Vascular anomaly