Clinical Variability in Familial X-Linked Hypohidrotic Ectodermal Dysplasia with 2q12Mutation: A Rare Case Report of Female Siblings Agony
Journal Title: Journal of Endocrinology and Diabetes - Year 2017, Vol 4, Issue 4
Abstract
Background: Hypohidrotic Ectodermal dysplasia (HED) is a hereditary entity characterized by the abnormal development of embryonic ectodermally derived organs including sweat glands, teeth, and hair. The most prevalent form of HED is X-linked recessive with the gene mapping to Xq12-q13, seen mainly in males. Case Report: Here, we present a rare case of autosomal Ectodermal dysplasia in two female siblings associated with defects of the 2q12 region in both of their cell lines. Both siblings had variable alopecia, anhidrosis, molar hyperplasia and hypodontia. This paper highlights their oral rehabilitation, and the effects that the operative techniques had on their appearance and psyche. Conclusion: The treatment resulted in excellent acclimatization to the prosthesis, improvement in the mastication, speech, and social attitude; thereby improving the quality of life.
Authors and Affiliations
Nidhi Chhabra, Anuj Chhabra, Ruchi Mehta
Keywords
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- EP ID EP333832
- DOI 10.15226/2374-6890/4/4/00185
- Views 74
- Downloads 0
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