Un raro caso di displasia ectodermica in soggetto con fenotipo apparentemente normale

Objectives. To describe a case of ectodermal dysplasia, mental retardation, osteopenia, and special attention was paid to the familiarity of the disease. Only one brother has participated in the study.Materials and methods. The collection of anamnestic data and clinical patient assumes considerable importance in the diagnosis of this disease. In fact, the triad of nail dystrophy, palmoplantar hyperkeratosis and alopecia or hypotrichosis is usually accompanied by a lack of sweat glands and the absence of partial or complete primary dentition and/or permanent.Results and conclusions. Dental manifestations including hypodontia, anodontia complete or malformation of the teeth may be the first clinical manifestations and should prompt the clinician to the suspicion of the disease. It requires a multidisciplinary approach to the certainty of diagnosis and the therapeutic framework.