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Boletín médico del Hospital Infantil de México
versión impresa ISSN 1665-1146
Resumen
NORIEGA-JUAREZ, Miguel A. et al. X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient. Bol. Med. Hosp. Infant. Mex. [online]. 2020, vol.77, n.4, pp.212-217. Epub 29-Sep-2020. ISSN 1665-1146. https://doi.org/10.24875/bmhim.19000209.
Background:
Ectodermal dysplasias are a group of genodermatoses characterized by dystrophy of ectodermal derived structures. The most frequent presentation of the ectodermal dysplasias is the hypohidrotic type, which has an incidence of 7/100,000 newborns and has been described in all ethnic groups. The hypohidrotic ectodermal dysplasia (HED) has different etiologies, and it is more frequently associated with an X-linked pattern of inheritance caused by pathogenic variants of the EDA gene in Xq13.1. EDA encodes the protein ectodisplasin A, a signal molecule which participates in epithelium and mesenchymal development of the skin.
Case report:
A 6 year-old male patient with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. The direct sequencing analysis of EDA in our patient detected a de novo pathogenic variant, c.466C>T, p.Arg156Cys, rs132630313. This variant has been previously described in different ethnic groups, including Mexican families, and is considered a mutational hotspot. The clinical characteristics, etiology and management of the X-linked HED, including the possibility of prenatal therapy in order to avoid the clinical manifestations are discussed.
Conclusions:
The molecular analysis in patients with X-linked HED is of relevance, as it enables to confirm the clinical diagnosis and also, it allows a genetic assessment with molecular bases.
Palabras llave : X-linked hypohidrotic ectodermal dysplasia; EDA gene; Genodermatoses.