Facial Sebaceous Hyperplasia in an Adolescent With Hypohidrotic Ectodermal Dysplasia.

dermatopathology ectodermal dysplasia genetic diseases/mechanisms genodermatoses

Journal

Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799

Informations de publication

Date de publication:
08 Sep 2024
Historique:
revised: 18 07 2024
received: 12 02 2024
accepted: 18 08 2024
medline: 9 9 2024
pubmed: 9 9 2024
entrez: 9 9 2024
Statut: aheadofprint

Résumé

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.

Identifiants

pubmed: 39246031
doi: 10.1111/pde.15751
doi:

Types de publication

Letter

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2024 Wiley Periodicals LLC.

Auteurs

Elena Lucía Pinto-Pulido (EL)

Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain.

Lucero Noguera-Morel (L)

Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain.

Isabel Colmenero (I)

Department of Pathology, Hospital Infantil Niño Jesús, Madrid, Spain.

Antonio Torrelo (A)

Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain.

Ángela Hernández-Martín (Á)

Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain.

Classifications MeSH