Ectodermal Dysplasia through the Lens of Clinical Cases: A Case Series
Résumé
Ectodermal dysplasias (EDs) are a heterogeneous group of hereditary conditions marked by abnormalities in ectodermal derivatives such as teeth, hair, nails, and sweat glands. These disorders show vast phenotypic diversity and are often classified by genetic mutation or by the structures involved. The hypohidrotic form, commonly associated with mutations in the ectodysplasin A (EDA) gene, often presents with a classical triad of hypodontia, hypotrichosis, and hypohidrosis. Diagnosing ED requires comprehensive clinical, radiographic, and often genetic assessments. This case series presents three patients from different age groups with clinical signs indicative of hypohidrotic ectodermal dysplasia, emphasizing phenotypic variability, inheritance patterns, and challenges in long-term multidisciplinary management.