Port Wine Stain on a limb can be either isolated or associated with complications (venous or orthopedic impairment, arteriovenous malformations), leading sometimes to complex syndromes (Klippel-Trenaunay syndrome,Parkes-Weber syndrome). Little is known about epidemiology of port wine stains: their evolution during the growth of the child, the frequency of complications, genetic data, and prognostic factors. This prospective french national cohort will help for : description of the evolution of port wine stain and possible complications; prognostic factors for complications ; association with mutations of RASA1 gene; quality of life of these children. It will also help for global appreciation of the management of this disease in France.
Prospective national study, including 16 Pediatric and Dermatologic Departments. Methods : each children with a port wine stain on a lower limb will be followed up for 5 years. Collected data : demographic data, clinical features, alterations of RASA1 gene, vascular evaluation by ultrasonographic and orthopedic evaluation by X rays, quality of life with a questionnaire. Inclusion period = 3 years Follow up period = 5 years Population = 150 children
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
PREVENTION
Masking
NONE
Enrollment
150
Blood sample ( 5 mL) at tne inclusion of the child DNA extraction and genetic analysis of the 24 exons of RASA1 gene after specific consent
Service de dermatologie
Amiens, France
Service de dermatologie
Angers, France
Service de dermatologie
Bordeaux, France
Service de dermatologie
Caen, France
Service de dermatologie
Dijon, France
Service de Dermatologie, Bâtiment tardieu
Le Mans, France
Service de Dermatologie, Hôpital St Eloi
Montpellier, France
Service de dermatologie
Nantes, France
Service de dermatologie
Nice, France
Service de dermatologie
Paris, France
...and 7 more locations
Complicated evolution (defined as: vascular, orthopedic or systemic involvement linked with the port wine stain)
Complicated evolution (defined as: vascular, orthopedic or systemic involvement linked with the port wine stain)
Time frame: during the 5 years of follow up
Mutations of RASA 1 gene
Mutations of RASA 1 gene
Time frame: during the 5 years of follow up
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