Hidrotic Ectodermal Dysplasia: Case Report and Review

Author Details : Karandeep Singh Arora, Kasper D. Hundal, Rupinder Deep Kaur, Shrawan Kumar Sharma

Volume : 1, Issue : 3, Year : 2015

Article Page : 156-159

Abstract

Ectodermal dysplasia is a group of disorders defined by the abnormal development of two or more structures derived from the ectodermal layer. Patients with ectodermal dysplasia are characterized by hypoplasia or aplasia of structures such as skin, hair, nails, teeth, nerve cells, sweat glands, parts of the eye and ear and other organs. It is divided into two major groups: Hypohidrotic and Hidrotic. The gene that causes hidrotic ectodermal dysplasia (Clouston’s syndrome) has been identified to be the GJB6, which encodes for connexin-30. GBJ-6 has been mapped to the pericentromeric region of chromosome 13q. Inheritance is autosomal dominant, but there may be considerable variation in expression. Severity is more pronounced in males than in females and thus females show only minor defects. Common features include spare hair on scalp and other part parts, dry skin, intolerance to heat, oligodontia or complete anodontia, prominence of frontal bone and supra orbital ridges, spoon shaped or concave nails. Carriers present with very less symptoms when compared to a patient which is actually affected. So we present a case of a hidrotic ectodermal dysplasia affecting a female patient so that the features and review can be highlighted.

Key words: Ectodermal dysplasia, Hidrotic, Oligodontia, Midface hypoplasia

How to cite : Arora K S, Hundal K D, Kaur R D, Sharma S K, Hidrotic Ectodermal Dysplasia: Case Report and Review. J Oral Med Oral Surg Oral Pathol Oral Radiol 2015;1(3):156-159

This is an Open Access (OA) journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.