- 2022, Volume 80 - Number 4
- Published: December 17, 2022
Ectodermal dysplasias
Ana L. João 1, Sofia Antunes-Duarte 2, Ana Cordeiro 3, Maria J. Paiva-Lopes 4
1 Department of Dermatology and Venereology, Hospital de Santo António dos Capuchos, Unidade Local de Saúde São José; Centro Clínico Académico de Lisboa. Lisboa, Portugal; 2 Dermatology and Venereology Department, Hospital de Santa Maria, Unidade Local de Saúde Santa Maria, Lisbon, Portugal; Dermatology and Venereology University Clinic, Faculty of Medicine, University of Lisbon, Lisbon, Portugal; 3 Centro Hospitalar Lisboa Central (CHLC)???Hospital Dona Estefânia, Hospital da Luz da Lisboa, Portugal, Lisboa, Portugal; 4 Department of Dermatology and Venereology, Hospital de Santo António dos Capuchos, Unidade Local de Saúde São José; Department of Dermatology and Venereology, NOVA Medical School, Faculdade de Ciências Médicas; Centro Clínico Académico de Lisboa. Lisboa, Portugal
Ana L. João, Sofia Antunes-Duarte, Ana Cordeiro, Maria J. Paiva-Lopes
La información completa de afiliaciones y autor de correspondencia está disponible en la versión original en PDF.
*Correspondence: Ana Cordeiro, Email not available
Abstract
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.
