Hypohidrotic Ectodermal Dysplasia Associated with Glucose-6-Phosphate Dehydrogenase Deficiency
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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. (Ann Dermatol 23(S1) S8∼S10,2011)
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. (Ann Dermatol 23(S1) S8∼S10,2011)
참고문헌 (11)
- Lind LK, "EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families", BMC Med Genet, 7, pp.80~ (2006)
- Lanzkowsky P, "Hemolytic anemia. In Manual of pediatric hematology and oncology. 4th ed", pp.136~198 (2005), New York: Elsevier
- Harper J, "Genetics and genodermatoses. In Rook’s textbook of dermatology. 7th ed", pp.12~85 (2004), Philadelphia: Blackwell Publishing
- Martínez F, "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T ＞ G (Leu55Arg)", J Invest Dermatol, 113, pp.285~286 (1999)
- Itin PH, "Ectodermal dysplasias", Am J Med Genet C Semin Med Genet, 131, pp.45~51 (2004)
- Lu PD, "Hypohidrotic ectodermal dysplasia", Dermatol Online J, 14, pp.22~ (2008)
- Motil KJ, "Growth characteristics of children with ectodermal dysplasia syndromes", Pediatrics, 116, pp.229~234 (2005)
- Lau HK, "Acute massive haemolysis in children with glucose-6-phosphate dehydrogenase deficiency", Hong Kong Med J, 12, pp.149~151 (2006)
- Anees M, "Hematuria: a rare presentation of G6PD deficiency", Gomal J Med Sci, 3, pp.27~29 (2005)
- de Gurrola GC, "Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature", J Med Case Reports, 2, pp.146~ (2008)
- Filippi G, "X-mapping in man: evidence against measurable linkage between anhidrotic ectodermal dysplasia and G6PD deficiency", J Med Genet, 16, pp.223~224 (1979)