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.