What is it?
Rare Diseases and Orphan diseases
Rare Diseases and Orphan diseases are diseases whose prevalence is low, between 1/1000 and 1/200000 according to national definitions. To date, it is estimated that between 5000 and 8000. 80% of these diseases are genetic.
Venous malformations
Bien que la cause exacte de ces lésions n’ait pas encore été déterminée, un déficit en cellules du muscle lisse de la paroi veineuse est connu pour être un facteur critique.
Quelques familles ont été identifiées avec des malformations veineuses avec de multiples modifications dans les gènes responsables de la communication des cellules endothéliales et musculaires lisses.
Venous malformations (angioma cavities) are the most common symptoms of vascular malformations (angioma). According to the epidemiological survey conducted on the Basse Normandie (Stable population area of France), the annual incidence is of 0.0143 cases per 10 000 inhabitants. While the prevalence is 1.08 cases per 10 000 inhabitants.
Like many rare conditions, there are very few epidemiological data. The clinical presentation of very diffuse MV does not facilitate the task of experts. These common birthmarks usually become symptomatic in older children or young adults, with a bluish discoloration of the skin, local swelling, and pain.
More informations : www.orpha.net
National Plan for Rare Diseases in France:
Although the exact cause of these lesions has not yet been determined, a deficiency of smooth muscle cells of the vein wall is known to be critical. Some families were identified with venous malformations with multiple changes in the genes responsible for communication of endothelial cells and smooth muscle.
N.B. Be aware that some venous malformations appear at birth or during childhood and often regress spontaneously. It is recommended to follow the evolution of these angiomas seen in your child by a physician.