Heredity of port-wine stains: investigation of families without a RASA1 mutation.

ABSTRACT:

Background

The prevalence of capillary malformations, also known as port-wine stains (PWS), is 0.3%. Familial segregation can occur. The capillary malformation-arteriovenous malformation (CM-AVM) phenotype is caused by mutations in the RASA1 gene. In PWS familial cases, the inheritance is considered to be autosomal dominant with variable penetrance.

Objective

Investigation of the heredity of PWS among patients who attended the vascular anomaly section at the Department of Dermatology in Malmoe, Southern Sweden, between 1993 and 2004 and to study the involvement of the RASA1 gene in patients with a positive family history of PWS.

Subjects and methods

A total of 254 patients were examined and given a questionnaire regarding family history of PWS. The first group of 175

SUBMITTER: Troilius Rubin A 

PROVIDER: S-EPMC4975081 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature