Jornal de Síndromes Genéticas e Terapia Gênica
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Hypohidrotic Ectodermal Dysplasia in Association with Athelia

Iveta Dencheva, Ivan Botev and Lyubka Miteva

Hypohidrotic ectodermal dysplasia (HED) is characterized by hypohidrosis, hypotrichosis and hypodontia. We present an 11-year-old girl who developed some malformative stigmas at birth such as facial dysmorphysm, abnormally low-placed auricles, hypertelorism, and exophthalmia. At present we can identify dry scaly skin; fine sparse and brittle hair, eyebrows, and eyelashes, hypodontia, nail dystrophy, hypohidrosis, and athelia, with deficient hearing and vision. Histopathological examination reveals absence of sweat glands. In this case we discuss the heterogeneity of the ectodermal dysplasias and the clinical criteria for their classification. We present a rare association of hypohidrotic ectodermal dysplasia and athelia.