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Case Reports in Dentistry
Volume 2012 (2012), Article ID 281074, 4 pages
http://dx.doi.org/10.1155/2012/281074
Case Report

An Insight into the Genesis of Hypohidrotic Ectodermal Dysplasia in a Case Report

1Department of Oral & Maxillofacial Pathology, I.T.S-CDSR, Muradnagar, Ghaziabad 201206, India
2Department of Oral & Maxillofacial Pathology, Inderprastha Dental College, Sahibabad, Ghaziabad 201010, India
3Department of Prosthodontics, Krishna Dental College, Mohannagar, Ghaziabad 201206, India

Received 26 September 2012; Accepted 27 November 2012

Academic Editors: S. Anil and M. A. Polack

Copyright © 2012 Kiran Kumar et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is estimated to affect at least one in 17000 people worldwide. We report a rare case of HED in a 14-year-old male child patient which extraorally manifested as alopecia, scanty eyebrow and eye lashes, frontal bossing, depressed nasal bridge, and full and everted lips. Intraoral examination revealed complete anodontia of the deciduous teeth and partial anodontia of the permanent teeth. It is usually inherited as an X-linked recessive trait caused by mutation in any of the three EDA pathway genes. X-linked and autosomal recessive forms are phenotypically similar; thus, identification of carriers of partial forms of the disorder in their families is the key to clarifying intrafamilial genetic transmission.