Hypohidrotic ectodermal dysplasia associated with glucose-6-phosphate dehydrogenase deficiency.

Content Provider	Europe PMC
Author	Ermertcan, Aylin Türel Yaşar, Ali Kayhan, Tuba Çelebİ Gülen, Hüseyin Ertan, Pelin
Copyright Year	2011
Abstract	Hypohidrotic ectodermal dysplasia (HED) is a syndrome characterized by hypodontia, hypotrichosis, and partial or total ecrine sweat gland deficiency. The most prevalent form of HED is inherited as an X linked pattern. Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is an X-linked recessive disease, which leads to hemolytic anemia and jaundice. It is expressed in males, while heterozygous females are usually clinically normal. A 12-year-old boy with the complaints of hair and eyebrow disturbances, teeth disfigurement, decreased sweating, and xerosis presented to the outpatient clinic. Dermatological examination revealed sparse hair and eyebrows, conical-shaped teeth, xerosis, syndactylia, transverse grooves, and discoloration of nails. Laboratory findings indicated anemia. His 3-year-old sister also had sparse hair and eyebrows, xerosis, and syndactylia. We learned that the patient had a previous history of neonatal jaundice and a diagnosis of G-6-PD deficiency. Although it has been shown that loci of ectodermal dysplasia and G-6-PD deficiency genes are near to one another, we did not find any case study reporting on occurrence of these two genetic diseases together. With the aspect of this rare and interesting case, the relationship between HED and G-6-PD deficiency was defined.
ISSN	10139087
Journal	Annals of Dermatology
Volume Number	23 Suppl 1
PubMed Central reference number	PMC3199431
Issue Number	Suppl 1
PubMed reference number	22028581
e-ISSN	20053894
DOI	10.5021/ad.2011.23.S1.S8
Language	English
Publisher	Korean Dermatological Association; The Korean Society for Investigative Dermatology
Publisher Date	2011-09-30
Access Restriction	Open
Rights License	This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Copyright © 2011 Korean Dermatological Association; The Korean Society for Investigative Dermatology
Subject Keyword	Ectodermal dysplasia Glucose-6-phosphate dehydrogenase deficiency hypohidrotic
Content Type	Text
Resource Type	Article
Subject	Dermatology