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Updated: Jan 6, 2026

Establishment of a Clinic-based Biorepository
Published on: May 29, 2017
P63-related disorders: Dermatological characteristics in 22 patients
Alexia Maillard1, Caroline Alby2, Eric Gabison3
1Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Paris, France.
Abstract:
In P63-related ectodermal dysplasias (ED), the clinical characteristics focus on extra-cutaneous manifestations. The dermatological phenotype remains incompletely characterized. We report the dermatological features of 22 patients carrying a TP63 mutation. Erosions, erythroderma and pigmentary anomalies are characteristics of P63-related ED. Our data suggest that patients might be classified into two major P63-related disorders: AEC and EEC. RHS and ADULT represent mild AEC and EEC forms, respectively.
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