Capillary Malformation-Arteriovenous Malformation

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

RASA1, STAMBP, CCNH, EPHB4, ACVRL1, RASA2, ENG, RAB1B, NAA25, NSUN5, RAB6B, BRD8, SYNGAP1, RAP2B, ARF3, RAP1B, NOP2, MEF2C, IGSF1, HNRNPU, CTNND1, SPRED1

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This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.

Epidemiology

So far, it has been described in multiple members of six families.

Clinical description

The CMs are atypical: they are small, round-to-oval in shape and pink-red in colour. AVMs may be cutaneous, subcutaneous, intramuscular, intraosseous or cerebral. The association of CM with arteriovenous fistulas or Parkes-Weber syndrome (see this term) was reported in some cases.

Etiology

The syndrome is caused by heterozygous mutations in the RASA1 gene (5q13.3), encoding RAS p21 protein activator 1.