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Hidrotic Ectodermal Dysplasia: Case Report and Review
- Author Details:
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Karandeep Singh Arora
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Kasper D. Hundal
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Rupinder Deep Kaur
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Shrawan Kumar Sharma
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