P63-related disorders: Dermatological characteristics in 22 patients.
Alexia MaillardCaroline AlbyEric GabisonSerge DoanFrédéric CauxChristine BodemerSmail Hadj RabiaPublished in: Experimental dermatology (2020)
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.