ED – Ectodermal Dysplasias including Incontinentia Pigmenti and P63- associated disorders

Thematic group

Chair of the thematic group

Chair of the thematic group

SKIN ePAG Advocate

SKIN ePAG Advocate

SKIN ePAG Community

Focus of the group

Ectodermal dysplasias are genetic conditions 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 derivatives only.
  • Syndromic ectodermal dysplasias in which other organs may also be involved, e.g. the skeleton (clefts and ectrodactyly)

There are more than 100 forms of the condition. Thorough investigations are required to find out which of these forms patients throughout Europe are suffering from as well as to guide therapeutic attempts.

The need for a thematic group dedicated to such developmental disorders was obvious. A variety of medical specialists including dermatologists, paediatricians, pathologists, geneticists, neurologists, psychologists, ophthalmologists, plastic surgeons, and nurses share their expertise to bring the best care to the patient and make timely clinical and molecular diagnosis available. Key diagnostic and therapeutic procedures are offered in the various centers of the ERN Skin.

Participating Reference Centres

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