Table 2.
ISSVA Vascular Anomalies classification scheme from 2015.
Data from: International Society for the Study of Vascular Anomalies
| Capillary Malformations (CM) | |
|
| |
| Cutaneous and/or mucosal CM (port wine stain) | GNAQ |
| CM with bone and/or soft tissue hyperplasia | |
| CM with CNS and/or eye anomalies (Sturge-Weber) | GNAQ |
| CM of CM-AVM | RASA1 |
| Telangiectasia | |
| Hereditary hemorrhagic telangiectasia (HHT) | |
| HHT1 | ENG |
| HHT2 | ACVRL1 |
| HHT3 | |
| Others | |
| Cutis marmorata telangiectatica congentia (CMTC) | |
| Nevus simplex/Salmon patch | |
|
| |
| Lymphatic Malformations (LM) | |
|
| |
| Primary lymphedema | |
| Nonne-Milroy syndrome | FLT4/VEGRFR3 |
| Primary hereditary lymphedema | VEGFC |
| Primary hereditary lymphedema | GJC2/Connexin 47 |
| Lymphedema-distichiasis | FOXC2 |
| Hypotrichosis-lymphedema-telangiectasia | SOX18 |
| Primary lymphedema with mylodysplasia | GATA2 |
| Primary generalized lymphatic anomaly | CCBE1 |
| Microcephaly with/without chorioretinopathy | KIF11 |
| Lymphedema or mental retardation syndrome | |
| Lymphedema-choanal atresia | PTEN14 |
|
| |
| Venous Malformations (VM) | |
|
| |
| Common VM | TIE2 somatic |
| Familial VM cutaneo-mucosal (VMCM) | TIE2 |
| Blue rubber bleb nevus (Bean) syndrome VM | |
| Glomuvenous malformation (VM with glomus cells) | Glomulin |
| Cerebral cavernous malformation (CCM) | |
| CCM1 | KRIT1 |
| CCM2 | Malcavernin |
| CCM3 | PDCD10 |
|
| |
| Arteriovenous Malformations (AVM) | |
|
| |
| Sporadic in HHT | |
| HHT1 | ENG |
| HHT2 | ACVRL1 |
| JPHT (juvenile polyposis hem. telangiect.) | SMADA4 |
| CM-AVM | RASA1 |
|
| |
| Arteriovenous Fistulas (AVF) | |
|
| |
| Vascular Malformations Associated with other Anomalies | |
|
| |
| Klippel- Trenaunay syndrome | |
| Parkes Weber syndrome | RASA1 |
| Servelle-Martorell syndrome | |
| Sturge-Weber syndrome | GNAQ |
| Limb CM + congenital non-progressive limb overgrowth | |
| Maffucci syndrome | |
| Macrocephaly – CM (M-CM or MCAP) | PIK3CA |
| Microcephaly – CM (MICCAP) | STAMBP |
| CLOVES syndrome | PIK3CA |
| Proteus syndrome | AKT1 |
| Bannayan-Riley-Ruvalcaba syndrome | PTEN |
|
| |
| Provisionally Unclassified Vascular Anomalies | |
|
| |
| Verrucous hemangioma | |
| Multifocal lymphangioendotheliomatosis with thrombocytopenia/cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT) | |
| Kaposiform lymphangiomatosis (KLA) | |
| PTEN (type) hamartoma of soft tissue/“angiomatosis” of soft tissue | PTEN |