[MIM 608 354, 618 196]

Rare. Autosomal dominant transmission. Mutations of the RASA1 gene (5q14.3) (type 1) or the EPBH4 gene (7q22) (type 2).  Sometimes associated with Parkes-Weber syndrome (see this term).

-  Type 1:
atypical, multiple, pinkish or brownish capillary malformations, often associated with local hypotrichosis and a whitish perilesional halo (50 %). These lesions are considered to be cutaneous arteriovenous micromalformations.  A third of patients also have high-flow vascular malformations (arteriovenous malformations) in the skin, muscles, bones, brain or spinal cord. About 10 % of the vascular malformations are located in the brain, and are rarely multiple: they are often associated with a large cutaneous lesion ('herald patch') in the middle of the face.

- Type 2:
skin lesions similar to type 1, but more often associated with Bier's spots and telangiectasias (especially labial and perioral), and a pale central region in the widest lesions ("Herald patch").  The association with high-flow vascular malformations is rare (18 %), and only 3 % are cerebral. Frequent epistaxis.

Anesthetic implications:

risk of arteriovenous malformations, particularly in the brain.

References :

-         Cordiscoa MR,  El-Feghalya J, Prezzanoa JC, Lanöel A, Torres N, Persicoc S, Requejoc F, Sierrec S, Fiandrinod MJ, Lunae L, Maccarioe MF, Brouillard P, Vikkula M.
Capillary malformation-arteriovenous malformation type 2, A report of 6 cases and main differential diagnosis.
J Vascular Anomalies 2022 ; 3 : doi 10.1097/JOVA.0000000000000053

Updated: May 2024