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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Anhidrotic ectodermal dysplasia. Report of a rare mutation in EDA1
Annales de Dermatologie et de Venereologie, Volume 136, No. 1, Year 2009
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Description
Background: Anhidrotic ectodermal dysplasia is a rare inherited disorder seen mainly in the X-linked recessive form. We report the case of a Lebanese family in which the mother transmitted an uncommon missense mutation to three of her sons. Patients and methods: A 23-year-old patient presented with keloids in nodular acne. The physical examination showed fine and sparse hair, thick everted lips and dental defects. A detailed history revealed congenital anhidrosis. The patient's, seven-year-old and four-year-old brothers had the same characteristic facial morphology and were also presenting anhidrosis. The mother had hypodontia. The parents, though not consanguineous, were from the same village. Genetic testing with sequencing of the EDA1 gene revealed a missense mutation affecting codon 155. Discussion: Ectodermal dysplasias are currently found in more than 150 syndromes. The patient's history and the clinical signs suggest the X-linked recessive form of anhidrotic ectodermal dysplasia due to a mutation in EDA1 gene encoding the ectodysplasin. The mutation found in this family is very rare and was mentioned once in a study on splicing forms that permit detection of all EDA1 mutations. Besides, this patient tolerated oral isotretinoin perfectly well, unlike another case reported once in the literature. Finally, genetic counselors must inform carrier mothers of the high recurrence rate among male offspring. © 2008 Elsevier Masson SAS. All rights reserved.
Authors & Co-Authors
Tomb, R.
Lebanon, Beirut
Hôtel-dieu de France Hospital
Soutou, Boutros
Lebanon, Beirut
Hôtel-dieu de France Hospital
Zalloua, Pierre A.
Lebanon, Beirut
American University of Beirut
Statistics
Citations: 3
Authors: 3
Affiliations: 2
Identifiers
Doi:
10.1016/j.annder.2008.04.018
ISSN:
01519638
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Participants Gender
Male