TABLE 1.
Vascular anomalies with known genetic mutations, loci, or predisposing factors
| Vascular anomaly | Clinical signs | Linked Locus/Loci | Mutated/Predisposing Gene |
|---|---|---|---|
| Hemangioma | Erythematous macular patch, blanched spot or telangiectasia with rapid postnatal growth. | - | VEGFR2/TEM8, predisposing variants |
| Venous malformation (VM) | Bluish lesion compressible on palpation. | - | TIE2, 40–50% |
| Cutaneomucosal venous malformation (VMCM) | Multiple small punctate bluish spots. | 9p21-22 | TIE2 |
| Glomuvenous malformation (GVM) | Small, multifocal bluish-purple, cobblestone and hyperkeratotic lesions. | 1p21-22 | Glomulin |
| Capillary malformation-Arteriovenous malformation (CM-AVM) | Multifocal capillary malformation with pale halo, AVM, AVF, Vein of Galen, aneurysmal malformation, Parkes Weber syndrome. | 5q13-22 | RASA1 |
| Hereditary Hemorrhagic Telangiectasia (HHT1/HHT2/HHT3/HHT4) | Epistaxis, telangiectasia, AVM (lung, liver, brain, GI tract). | 9q33-34/12q11-14/5q/7p14 | ENG/ACVRL1/?/? |
| HHT Juvenile Polyposis (JPHT) | HHT with juvenile polyposis | 18q21 | SMAD4 |
| Angioma Serpiginosum | Patchy capillary malformation with dilated capillaries following BlaschkoÕs lines, mild nail, hair dystrophy, papillomatosis. | Xp11.3-Xq12 | PORCN ? |
| Cerebral cavernous malformation (CCM1/CCM2/CCM3) | Cerebral capillarovenous malformations, and sometimes cutaneous lesions (HCCVM). | 7q21-Q22/7p15-p13/3q25.2-27 | KRIT1/malcavernin/PDCD10 |
| Nonne-Milroy syndrome | Lymphedema, hydrocele, large caliber leg veins, cellulitis, curled toenails, papillomatosis. | 5q34-35 | VEGFR3 |
| Lymphedema-distichiasis | Lymphedema, distichiasis, ptosis, yellow nails, syndactyly, cleft palate and cardiac septal defects. | 16q24.3 | FOXC2 |
| Hypotrichosis-Lymphedema-Telangiectasia (HLT) | Sparse hair, lymphedema and cutaneous telangiectasias. | 20q13.33 | SOX18 |
| Hennekam syndrome | Peripheral lymphedema, with visceral involvement, mental retardation and unusual, flat face, hypertelorism and broad nasal bridge. | 18q21.32 | CCBE1 |
| OLEDAID | Osteoporosis Lymphedema Anhydrotic Ectodermal Dysplasia with Immunodeficiency. | Xq28 | NEMO |
| Primary Congenital Resolving Lymphedema | Early onset lymphedema with papillomatosis resolving at 30 to 40 year of age | 6q16.2-q22.1 | ? |
| Aagenaes Syndrome or Hereditary Lymphedema Cholestasis (HLC) | Extended lymphedema of lower extremities, malabsorption, growth retardation, rickets, cholestatic jaundice and hepatomegaly. | 15q | ? |