Login / Signup

Facial Sebaceous Hyperplasia in an Adolescent With Hypohidrotic Ectodermal Dysplasia.

Elena Lucia Pinto-PulidoLucero Noguero-MorelIsabel ColmeneroAntonio TorreloAngela Hernández-Martín
Published in: Pediatric dermatology (2024)
We report on a 13-year-old boy diagnosed with hypohidrotic ectodermal dysplasia (HED) due to a pathogenic variant in ectodysplasin A (EDA). He exhibited multiple whitish, millimetric papules clustered on the nasal ala, forehead, temporal, and zygomatic arch areas. Histological examination revealed numerous hyperplastic sebaceous lobules within the upper dermis. The occurrence of sebaceous papules in this distribution among HED patients has rarely been reported. An association with the blockage of the Wnt/β-catenin pathway due to EDA malfunction has been speculated.
Keyphrases
  • end stage renal disease
  • newly diagnosed
  • ejection fraction
  • chronic kidney disease
  • young adults
  • risk assessment
  • prognostic factors
  • cell proliferation
  • peritoneal dialysis
  • single cell
  • patient reported outcomes