Ectodermal Dysplasias including Incontinentia Pigmenti and P63- associated disorders

Thematic group

Chair of the thematic group

Smail Hadj-Rabia (APHP – Necker Enfants Malades)

Chair of the thematic group

Holm Schneider (Universitätsklinikum Erlangen)

Focus of the group

Ectodermal dysplasias are genetic conditions due to birth defects, affecting the development and/or homeostasis of two or more ectodermal derivatives, such as hair, teeth, nails, and sweat glands. They are divided into two groups:

  • Pure Ectodermal dysplasias involving the ectodermal derivates only.

  • Syndromic Ectodermal dysplasias in which other organs might be involved such as breast (nipples and ductal growth and branching anomalies), clefts and ectrodactyly etc.

There are more than 200 forms of the condition. They require thorough investigations in order to identify which of these forms, patients throughout Europe are suffering from.

The necessity of a thematic group dedicated to these pathologies was obvious. A variety of medical specialists such as dermatologists, pathologists, geneticists, neurologists, psychologists, ophtalmologists and nurses share their expertise to bring the best care to the patient and make available a clinical and molecular diagnosis. Key diagnostic can be made possible thanks to the resources available in the various centers of the ERN Skin.

Participating Reference Centres