P63‐related disorders: Dermatological characteristics in 22 patients

Authors :: Frédéric Caux
Eric E. Gabison
Serge Doan
Smail Hadj-Rabia
Caroline Alby
Christine Bodemer
Alexia Maillard
Source :: Experimental Dermatology. 28:1190-1195
Publication Year :: 2019
Publisher :: Wiley, 2019.
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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