What's Genodermatoses  :

About Genodermatoses:

Genodermatoses are genetic diseases with cutaneous expression. The burden of severe Genodermatoses is huge for the patients and their family. Social exclusion, disability, short life expectancy makes this population very vulnerable.

Only symptomatic treatments are available and they are of major importance. The medical care involves many specialties: dermatology, otolaryngology, pediatrics, gynecology, urology, ophthalmology, oncology, plastic and maxillofacial surgery, gastroenterology, nephrology, radiology, radiotherapy, odontology, nutrition, etc.

Epidermolysis bullosa

This form of severe genodermatose is due to a permanent defect in dermal-epidermal adhesion. Blisters appear spontaneously or following minor trauma, mucous membranes frequently erode. The condition of the skin is similar to that of severe burn victims, as the barrier function is highly impaired. The objective of treatment is to give the best possible well-being to the child:skin care, prevention of complications, management of pain, psychological support for the patient and his/her family, genetic counselling. Without treatment patients are likely to die prematurely from malnutrition and infections.

Ichthyosis

Severe ichthyosis is due to a genetic defect of the desquamation. The objective of treatment is to reduce skin thickening and to prevent complications thanks to skin care. Without treatment the body is covered with large scales making social life very difficult.

Plamoplantar keratoderma and Meleda syndrome

Hereditary palmopantar keratoderma and Meleda syndrome are characterized by the appearance of patches of hard skin on the feet and on the hands.

Treatment aims at cleaning out patches of hard skin.
Without treatment, the skin on the hands and the feet acquire a horny texture making movement extremely difficult.

Xeroderma pigmentosum

Xeroderma pigmentosum is caused by a genetic defect in DNA excision repair following exposure to the sun. Treatment is mainly prevention from the sun and skin tumors’ exeris. With no protection from the sun’s ultraviolet radiation, affected children quickly succumb to a variety of fatal skin cancers.