title: 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.
  
  
  METHODS
  A total of 254 patients were examined and given a questionnaire regarding family history of PWS. The first group of 175 patients (109 females and 66 males) reported a negative family history. The other group of 65 patients (46 females and 19 males) reported a positive family history (50% parents or brothers and sisters).
  
  
  RESULTS
  The heredity of PWS was 27% (65/240). Twenty-one patients with a positive family history and relatives had no CM-AVM phenotype for mutations in the RASA1 gene.
  
  
  CONCLUSIONS
  PWS may have a stronger heredity component than it was reported earlier and inheritance should be considered when counseling a patient. RASA1 mutations do not explain the PWS in our patients.
authors.affiliation: Department of Dermatology, Laser & Vascular Anomaly, Skåne University Hospital , Malmoe , Sweden.
authors.forename: Agneta
authors.initials: A
authors.lastname: Troilius Rubin
authors.forename: Edgar
authors.initials: E
authors.lastname: Lauritzen
authors.forename: Bo
authors.initials: B
authors.lastname: Ljunggren
authors.forename: Nicole
authors.initials: N
authors.lastname: Revencu
authors.forename: Mikka
authors.initials: M
authors.lastname: Vikkula
authors.forename: Åke
authors.initials: Å
authors.lastname: Svensson
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D019339:Port-Wine Stain / Q000235:genetics*; D012189:Retrospective Studies; D055815:Young Adult; D020729:p120 GTPase Activating Protein / Q000235:genetics*
chemical_list: C557248:RASA1 protein, human; D020729:p120 GTPase Activating Protein
keywords: RASA1 gene; capillary malformation; congenital; heredity; port-wine stain