Ann Dermatol.  2011 Sep;23(Suppl 1):S8-S10. 10.5021/ad.2011.23.S1.S8.

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

• Ermertcan
• Yasar A
• Kayhan TC
• Gulen H
• Ertan P

• KMID: 2156740
• DOI: http://doi.org/10.5021/ad.2011.23.S1.S8

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.

Keyword

Ectodermal dysplasia; Glucose-6-phosphate dehydrogenase deficiency hypohidrotic

MeSH Terms

Ambulatory Care Facilities
Anemia
Anemia, Hemolytic
Anodontia
Child
Ectoderm
Ectodermal Dysplasia
Eyebrows
Female
Glucose-6-Phosphate
Glucosephosphate Dehydrogenase
Glucosephosphate Dehydrogenase Deficiency
Hair
Humans
Hypotrichosis
Infant, Newborn
Jaundice
Jaundice, Neonatal
Male
Nails
Preschool Child
Siblings
Sweat
Sweat Glands
Sweating
Syndactyly
Tooth
Glucose-6-Phosphate
Glucosephosphate Dehydrogenase

Figure

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  Fig. 1 Clinical view of sparse hair and eyebrows.

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  Fig. 2 Conical-shaped teeth.

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  Fig. 3 Syndactylia, transverse grooves, and discoloration of the toenails.

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