Hypohidrotic ectodermal dysplasia: clinical and molecular review.

Autor: Reyes-Reali J; Laboratorio de Inmunología, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, Mexico., Mendoza-Ramos MI; Laboratorio de Inmunología, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, Mexico., Garrido-Guerrero E; Laboratorio de Investigación en Biología Molecular y Celular del Cáncer, Departamento de Genética y Biología Molecular, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Ciudad de México, Mexico., Méndez-Catalá CF; Laboratorio Nacional de Enfermedades Crónico-Degenerativas/Unidad de Biomedicina (UBIMED), Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, Mexico., Méndez-Cruz AR; Laboratorio de Inmunología, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, Mexico., Pozo-Molina G; Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, Mexico.
Jazyk: angličtina
Zdroj: International journal of dermatology [Int J Dermatol] 2018 Aug; Vol. 57 (8), pp. 965-972. Date of Electronic Publication: 2018 May 31.
DOI: 10.1111/ijd.14048
Abstrakt: Hypohidrotic Ectodermal Dysplasia (HED) is a genetic human disorder which affects structures of ectodermal origin. Although there are autosomal recessive and dominant forms, X-linked (XL) is the most frequent form of the disease. This XL-HED phenotype is associated with mutations in the gene encoding the transmembrane protein ectodysplasin-1 (EDA1), a member of the TNFα-related signaling pathway. The proteins from this pathway are involved in signal transduction from ectoderm to mesenchyme leading to the development of ectoderm-derived structures in the fetus such as hair, teeth, skin, nails, and eccrine sweat glands. The aim of this review was to update the main clinical characteristics of HED regarding to recent molecular advances in the comprehension of all the possible genes involved in this group of disorders since it is known that Eda-A1-Edar signaling has multiple roles in ectodermal organ development, regulating their initiation, morphogenesis, and differentiation steps. The knowledge of the biological mechanisms that generate HED is needed for both a better detection of possible cases and for the design of efficient prevention and treatment approaches.
(© 2018 The International Society of Dermatology.)
Databáze: MEDLINE
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