Hereditary port-wine stains, do they exist?

Citation
Cmam. Van Der Horst et al., Hereditary port-wine stains, do they exist?, LASER MED S, 14(3), 1999, pp. 238-243
Citations number
30
Categorie Soggetti
Surgery,"Medical Research Diagnosis & Treatment
Journal title
LASERS IN MEDICAL SCIENCE
ISSN journal
02688921 → ACNP
Volume
14
Issue
3
Year of publication
1999
Pages
238 - 243
Database
ISI
SICI code
0268-8921(1999)14:3<238:HPSDTE>2.0.ZU;2-#
Abstract
Patients with a port-wine stain applying far laser treatment often mentione d having a member in the family with a similar birthmark. Of 280 consecutiv e new patients with a port-wine stain 55 mentioned relatives with the same anomaly. Family tendency (19.6%) for vascular malformations in our group wa s significantly higher than mentioned by others. Pedigrees were made of 32 families with two or more affected members, including probands. We present nine representative pedigrees of families with three or more members affect ed by port-wine stains. In these families no clear mode of inheritance can be discerned. Genetic linkage studies identified causative gene defects in certain venous malformations and Rendu-Osler-Weber disease. Knowledge of ne w theories on angiogenesis and molecular genetics has to be linked to our p atients with familial port-wine stains.