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 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. CONCLUSION: 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.
Subject(s)
Port-Wine Stain/genetics , p120 GTPase Activating Protein/genetics , Adolescent , Adult , Child , Child, Preschool , Female , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Mutation , Retrospective Studies , Young AdultSubject(s)
Anthelmintics/therapeutic use , Dermatitis/parasitology , Hookworm Infections/drug therapy , Thiabendazole/therapeutic use , Administration, Topical , Ancylostomatoidea/drug effects , Animals , Dermatitis/drug therapy , Humans , Larva/drug effects , Male , Thiabendazole/administration & dosage , Treatment Outcome , Young AdultABSTRACT
Vascular involvement in neurofibromatosis sometimes occurs and usually affects larger blood vessels of internal organs. We describe an unusual case of a now 41-year-old man with extensive skin involvement with ulcerations and histopathologic features of fibromuscular dysplasia, which has not been previously reported in the skin.
