P63-related disorders: Dermatological characteristics in 22 patients

Exp Dermatol. 2019 Oct;28(10):1190-1195. doi: 10.1111/exd.14045.

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.

Keywords: P63-related disorders; erosions; erythroderma; pigmentary disorders.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • Dermatitis, Exfoliative / genetics
  • Dermatoglyphics
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / genetics*
  • Eye Abnormalities / genetics
  • Eyelid Diseases / congenital
  • Eyelid Diseases / genetics
  • Female
  • Hair / abnormalities
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Infant
  • Male
  • Nipples / abnormalities
  • Pigmentation Disorders / genetics
  • Polychondritis, Relapsing / genetics
  • Symptom Assessment
  • Tooth Abnormalities / genetics
  • Transcription Factors / deficiency*
  • Transcription Factors / genetics
  • Tumor Suppressor Proteins / deficiency*
  • Tumor Suppressor Proteins / genetics
  • Urogenital Abnormalities / genetics
  • Young Adult

Substances

  • TP63 protein, human
  • Transcription Factors
  • Tumor Suppressor Proteins

Supplementary concepts

  • Cryptophthalmos, Unilateral or Bilateral, Isolated