1 - Department of Dermatology, Centro Hospitalar Universitário de Lisboa Central
2 - Department of Medical Genetics, Centro Hospitalar Universitário de Lisboa Central
3 - Department of Pediatrics, Centro Hospitalar Universitário de Lisboa Central
- Port J Dermatol and Venereol. 2022;80(4):293-301
Ectodermal dysplasias are a heterogeneous group of rare inherited disorders. Molecular findings and clarification of cell signaling processes and ectodermal-mesenchyme interaction enabled the development of a clinical-functional model, which in turn helps to explain clinical signs, with variability in severity, associated non-ectodermal abnormalities and overlap seen in many patients. We herein review the current state of knowledge regarding this distinct entity and illustrate with an elucidative case report. The need for early multidisciplinary intervention is highlighted, and further studies will focus on genetically-target therapeutic approaches.
Keywords: Ectodermal dysplasia. Genodermatosis. Genetic testing.