Johan Conquett-Huertas, Programa de Especialización en Dermatología, Universidad Libre de Cali, Cali, Colombia
Gustavo Posso-García, Programa de Especialización en Dermatología, Universidad Libre de Cali, Cali, Colombia
Jairo Victoria-Chaparro, Dermatología pediátrica, Universidad Libre de Cali, Cali, Colombia
Guillermo González-Rodríguez, Dermatología pediátrica, Universidad Libre de Cali, Cali, Colombia
Clouston syndrome or hypohidrotic ectodermal dysplasia is a rare autosomal dominant disorder caused by a mutation in the GJB6 gene. Its main clinical features include the triad of palmoplantar keratoderma, nail dystrophy, and hypotrichosis. A pediatric patient with nail and hair abnormalities was diagnosed clinically and genetically with this condition, and a diagnostic algorithm for approaching causes of pachyonychia in pediatric patients is presented. The importance of genetic counselling and appropriate differential diagnosis underscore the need for early clinical suspicion to initiate suitable therapeutic and supportive interventions.
Keywords: Ectodermal dysplasia. Nail diseases. Hypotrichosis. Genetic counselling.