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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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| PWS cohort | Other | search for polymorphisms of RASA1 gene |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| search for polymorphisms of RASA1 gene | Genetic | 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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) | during the 5 years of follow up |
| Measure | Description | Time Frame |
|---|---|---|
| Mutations of RASA 1 gene | Mutations of RASA 1 gene | during the 5 years of follow up |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Violaine MIZZI | University Hospital, Tours | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Service de dermatologie | Amiens | 80054 | France | |||
| Service de dermatologie |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 29110021 | Result | Maruani A, Durieux-Verde M, Mazereeuw-Hautier J, Boccara O, Martin L, Chiaverini C, Eschard C, Beneton N, Vabres P, Balguerie X, Plantin P, Bessis D, Barbarot S, Dadban A, Droitcourt C, Berthelot A, Lorette G, Leducq S, Samimi M, Andres C, Caille A, Vourc'h P; Groupe de Recherche de la Societe Francaise de Dermatologie. Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE. Acta Derm Venereol. 2018 Feb 7;98(2):251-255. doi: 10.2340/00015555-2835. |
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| Angers |
| 49933 |
| France |
| Service de dermatologie | Bordeaux | 33000 | France |
| Service de dermatologie | Caen | 14033 | France |
| Service de dermatologie | Dijon | 21079 | France |
| Service de Dermatologie, Bâtiment tardieu | Le Mans | 72037 | France |
| Service de Dermatologie, Hôpital St Eloi | Montpellier | 34295 | France |
| Service de dermatologie | Nantes | 44093 | France |
| Service de dermatologie | Nice | 06202 | France |
| Service de dermatologie | Paris | 75743 | France |
| Service de dermatlogie | Quimper | 29107 | France |
| Service de dermatologie | Reims | 51092 | France |
| Service de Dermatologie, Hôpital Pontchaillou, CHU de Rennes | Rennes | 35033 | France |
| Service de dermatologie | Rouen | 76031 | France |
| Service de dermatologie | Saint-Etienne | 42055 | France |
| Service de dermatologie | Toulouse | 31059 | France |
| Service de dermatologie | Tours | 37044 | France |
| ID | Term |
|---|---|
| D019339 | Port-Wine Stain |
| D007715 | Klippel-Trenaunay-Weber Syndrome |
| D013341 | Sturge-Weber Syndrome |
| ID | Term |
|---|---|
| D012868 | Skin Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D000798 | Angiomatosis |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D006391 | Hemangioma |
| D009383 | Neoplasms, Vascular Tissue |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D020752 | Neurocutaneous Syndromes |
| D009422 | Nervous System Diseases |
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