The action of the Rare Skin Diseases Network targets genodermatoses and rare skin diseases.
Genodermatoses are genetic diseases with skin expression. They are diverse (around 400) and almost all are rare. Their prevalence is between 1 per 6000 and 1 per 500 000. They appear at birth or very early in life and can sometimes lead to a life-threatening prognosis.
Genodermatoses have a great impact on the quality of life of patients and their families: social exclusion, disability, short life expectancy. All these factors make the sick and their families extremely vulnerable.
Only symptomatic treatments are currently available. They are essential. In addition, medical care involves the intervention of many specialists (dermatologist, pediatrician, gynaecologist, nutritionist, etc.), but at the meantime, diagnosis must be made quickly. For the most part, drugs and medical devices are not available or too expensive.
Genodermatoses and rare skin diseases are a major public health problem, particularly in countries where these types of diseases are not a priority.
The Rare Skin Diseases Network has targeted groups of severe genodermatoses such as: