[Linear lesions: A key dermatological feature of X-linked ectodermal dysplasia in a young girl].

Annales de dermatologie et de vénéréologie
C LinderJ Mazereeuw-Hautier

Abstract

X-linked hypo/anhidrotic ectodermal dysplasia (AED) is the most common form of AED. It is manifested in boys by involvement of the adnexa, teeth and sweat glands. In girls, signs are usually minor and may include linear lesions that are poorly known since they are reported infrequently or overlooked. Herein we report 3 cases. There were two female patients who had been followed for several years, as well as the mother of one of the patients. Both of the younger patients had early diagnosis of DEA in childhood based on severe dental abnormalities, i.e. hypodontia and conical teeth, a typical facies, and cutaneous xerosis. The mother had milder signs and the diagnosis was made at the time of her daughter's diagnosis. All 3 had hypopigmented linear skin lesions (arms, buttocks or back), associated with a decrease in hair in one of them. Genetic analysis showed the R156H missense mutation at exon 3 of the EDA gene in all 3 patients. These hypopigmentation linear lesions, sometimes with hair loss, are well known to pediatric clinicians and dermatologists concerning early diagnosis of AED in girls, especially where the other signs are mild. Early diagnosis enables appropriate therapeutic management and genetic counseling regarding fu...Continue Reading

References

Jun 1, 1989·Clinical Genetics·C TurleauJ de Grouchy
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Oct 7, 2004·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Peter H Itin, Susanna K Fistarol
Jun 15, 2007·American Journal of Medical Genetics. Part a·Karen Helene ØrstavikGunnar Houge
Jun 18, 2009·American Journal of Medical Genetics. Part a·Elizabeth A MauldinMargret L Casal
Apr 3, 2014·The British Journal of Dermatology·F Al MarzouqiS Hadj-Rabia
Apr 26, 2018·The New England Journal of Medicine·Holm SchneiderPascal Schneider

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