alexa Hypohidrotic Ectodermal Dysplasia in Association with A
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
Open Access

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Case Report

Hypohidrotic Ectodermal Dysplasia in Association with Athelia

Iveta Dencheva*, Ivan Botev and Lyubka Miteva

Department of Dermatology and Venereology, Medical University – Sofia, Bulgaria

*Corresponding Author:
Iveta Dencheva
Department of Dermatology and Venereology
Medical University – Sofia, 1
St. Georgi Sofiiski Blvd., Sofia 1431, Bulgaria
Tel: 359-887-330202
E-mail: [email protected]

Received date: May 29, 2014; Accepted date:July 28, 2014; Published date: July 30, 2014

Citation: Dencheva I, Botev I, Miteva L (2014) Hypohidrotic Ectodermal Dysplasia in Association with Athelia. J Genet Syndr Gene Ther 5:233. doi:10.4172/2157-7412.1000233

Copyright: © 2014 Dencheva I, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

Abstract

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.

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