The First Colombian Patient with CDH3-Related Hypotrichosis with Juvenile Macular Dystrophy
Year: 2025
Type: article
Study design: Case Report
Abstract: Introduction: Ectodermal dysplasias (ED) encompass a broad group of hereditary disorders, within which both the structure and functionality of various ectoderm-derived tissues can be affected depending on the involved gene. Congenital hypotrichosis with juvenile macular dystrophy is one of the entities included in ED, which is associated with an alteration in the CDH3 gene encoding P-cadherin. Case Presentation: We describe a 6-year-old patient with history of atopic dermatitis, amblyopia, and reduced vision acuity. Physical examination revealed hypotrichosis on the scalp with alopecia patches, microretrognathia, dental enamel abnormalities, dry skin, keratosis pilaris. Molecular analysis identified a homozygous variant in the CDH3 gene (NM_001793.6) c.1508G>A p.Arg503His. Conclusion: We present the first Colombian case of clinical and molecular diagnosis of hypotrichosis with juvenile macular dystrophy associated with CDH3.
Source: Skin Appendage Disorders
DOI: 10.1159/000545293
Authors: Luis Eduardo Prieto, Diana Marcela Vasquez-Forero, Harry Pachajoa
Institutions: Fundación Valle del Lili, Icesi University
Language: English
Topic: Hair Growth and Disorders
Subfield: Urology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W4408958628