Vascular anomalies

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For information on vascular tumors, click here.

For information on vascular malformations, click here.

For information on provisionally unclassified vascular anomalies, click here.

Vascular Anomalies


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Vascular Tumors
Vascular Malformations
Provisionally Unclassified Vascular Anomalies

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Provisionally Unclassified Vascular Anomalies Home Page

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]


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.


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 venous malformation
  • Capillary lymphatic malformation
  • Lymphatic venous malformation
  • Capillary lymphatic venous malformation
  • Capillary arteriovenous malformation
  • Capillary lymphatic arteriovenous malformation
  • Others

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* 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
Locally aggressive or borderline
Infantile hemangioma / Hemangioma of infancy
Kaposiform hemangioendothelioma
Congenital hemangioma
Retiform hemangioendothelioma
Epithelioid hemangioendothelioma
Tufted angioma
Papillary intralymphatic angioendothelioma (PILA), Dabska tumor
Spindle-cell hemangioma
Composite hemangioendothelioma
Epithelioid hemangioma
Pseudomyogenic hemangioendothelioma
Pyogenic granuloma (also known as lobular capillary hemangioma)
Polymorphous hemangioendothelioma
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

*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 + VMCapillary-venous malformationCVM
CM + LMCapillary-lymphatic malformationCLM
CM + AVMCapillary-arteriovenous malformationCAVM
LM + VMLymphatic-venous malformationLVM
CM + LM + VMCapillary-lymphatic-venous malformationCLVM
CM + LM + AVMCapillary-lymphatic-arteriovenous malformationCLVM
CM + VM + AVMCapillary-venous-arteriovenous malformationCVAVM
CM + LM + VM + AVMCapillary-lymphatic-venous-arteriovenous malformationCLVAVM

(also known as "channel type" or "truncal" vascular malformations)
Anomalies of
• Origin
• Course
• Number
• Diameter (aplasia,
hypoplasia, stenosis,
ectasia / aneurysm)
• Valves
• Communication (AVF)
• Persistence (of
embryonal vessel)
Klippel-Trenaunay syndromeCM + VM +/-LM + limb overgrowth
Parke's Weber syndromeCM + AVF + limb overgrowth
Servelle-Martorell syndromeLimb VM + bone undergrowth
Sturge-Weber syndromeFacial + leptomeningeal CM + eye anomalies +/-bone and/or soft tissue overgrowth
Maffucci syndromeVM +/-spindle-cell hemangioma + enchondroma
CLOVES syndromeLM + VM + CM +/-AVM+ lipomatous overgrowth
Proteus syndromeCM, VM and/or LM + asymmetrical somatic overgrowth
Bannayan-Riley-Ruvalcaba syndromelower 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
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)
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
Channel type LM
Glomuvenous malformation (GVM)
Cutis marmorata telangiectatica congenita (CMTC)
“Acquired” progressive lymphatic anomaly (so called acquired progressive "lymphangioma")
Cerebral cavernous malformation (CCM)
Primary lymphedema
Familial intraosseous vascular malformation (VMOS)
Hereditary hemorrhagic telangiectasia (HHT)
• Others
Verrucous venous malformation (formerly verrucous hemangioma)

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 *
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


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
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

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


(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]

See also


  1. 1.0 1.1 1.2 1.3 1.4 1.5 "Classification | International Society for the Study of Vascular Anomalies".