Genodermatoses & Rare Skin Disorders - a public health priority

Genodermatoses are genetic skin disorders

Genodermatoses are genetic diseases with cutaneous expression. They are various (around 400) and almost all rare. Their prevalence is between 1:6000 and 1:500 000. They usually break out at birth or early in life and severely affect children.

They are rare and sometimes life-threatening diseases. They have a high impact on the quality of life of the patients and of their family and on the society: social exclusion, disability, short life expectancy.

Genodermatoses & Rare Skin Disorders as a major public health issue

Severe genodermatoses are a major public health issue, especially in the Mediterranean basin and in the countries of the Middle-East. In the European countries, it falls within a recent public health priority: the rare diseases one. In every country, severe genodermatoses fall within other major public health concerns, such as handicap, cancer and chronic diseases.

The Genodermatoses & Rare Skin Disorders Network partners have targeted genodermatoses with a severe repercussion on quality of life of patients and of their families and leading to a huge social handicap.

Severe genodermatoses: a severe medical and social handicap for the patients and their family

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.

The access to medicines and medical devices is difficult because:

• medicines and medical devices are not available or expensive
• diagnosis has to be made as soon as possible

Social life is very difficult for the patients and their family: access to school, to work, and to leisure activities is often almost impossible.

The partner countries have targeted the following severe genodermatoses:

• 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.

• palmoplantar keratoderma and Meleda syndrome

Hereditary palmoplantar 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.