Hypohidrotic Ectodermal Dysplasia Associated with Glucose-6-Phosphate Dehydrogenase Deficiency

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.

Anhidrotik Ektodermal Displazi

“…AED seyrek saçlar, anormal ya da eksik dişler ve ter bezlerinin eksikliği ya da yokluğu ile karakterizedir. Olguların çoğunda kirpiklerde ve kaşlarda seyrekleşme de bulunur (1,5,6,7). Bizim olgumuzda da benzer klinik özellikler mevcuttu.…”

A rare cause of fever in the emergency department: anhidrotic ectodermal dysplasia

“…Clinical features of AED include sparse and fine hair, missing or conical-shaped teeth, decreased sweat and mucous glands, hypoplastic skin, and heat intolerance with exercise or increased ambient temperature. [1] The greatest risk arises from their inability to sweat that result in episodes of severe hyperthermia. Mortality of ED is highest during the first year of life, but remains elevated throughout early childhood.…”