Hypohidrotic ectodermal dysplasia: clinical and molecular review
Por:
Reyes-Reali J., Mendoza-Ramos M.I., Garrido-Guerrero E., Méndez-Catalá C.F., Méndez-Cruz A.R., Pozo-Molina G.
Publicada:
1 ago 2018
Categoría:
Dermatology
Resumen:
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 ectodysplasin1
( EDA1), a member of the TNFa- 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.
Filiaciones:
Reyes-Reali J.:
Laboratorio de Inmunología, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, Mexico
Mendoza-Ramos M.I.:
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 C.F.:
Laboratorio Nacional de Enfermedades Crónico-Degenerativas/Unidad de Biomedicina (UBIMED), Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, Mexico
Méndez-Cruz A.R.:
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
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