Cited by 101dental development and anomaliesGenetic and rare skin diseases.Hair Growth and Disorders

Hypohidrotic ectodermal dysplasia: clinical and molecular review

Reyes‐Reali, Julia, Mendoza‐Ramos, María Isabel, Garrido‐Guerrero, Efraín, Méndez‐Catalá, Claudia F., Méndez‐Cruz, Adolfo R., Pozo‐Molina, Glustein·2018·International Journal of Dermatology

Abstract

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 (EDA 1), 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.

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Crossref · 10.1111/ijd.14048

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Authors
Reyes‐Reali, J., Mendoza‐Ramos, M. I., Garrido‐Guerrero, E., Méndez‐Catalá, C. F., Méndez‐Cruz, A. R., & Pozo‐Molina, G.
Affiliations
  • Universidad Nacional Autónoma de México, Facultad de Estudios Superiores Iztacala (MX)
  • Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (MX)
  • Laboratorio Nacional de Enfermedades Crónico‐Degenerativas/Unidad de Biomedicina (UBIMED) Facultad de Estudios Superiores Iztacala Universidad Nacional Autónoma de México Tlalnepantla Mexico
Corresponding author
Pozo‐Molina, Glustein
Venue
International Journal of Dermatology
Publisher
Wiley
Published
2018-05-31
Volume
57
Issue
8
Pages
965-972
ISSN
  • 0011-9059 (ISSN-L)
  • 1365-4632
OpenAlex
W2806715961
Cited by
101
References
44
Citations by year
2026: 3 · 2025: 10 · 2024: 26 · 2023: 13 · 2022: 17 · 2021: 19 · 2020: 10 · 2019: 3
FWCI
0.78
Type
journal article
Language
en
Open access
closed
Locations
  • International Journal of Dermatology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
  • Health Sciences › Medicine › Urology › Hair Growth and Disorders
Keywords
hypohidrotic ectodermal dysplasia, X-linked hypohidrotic ectodermal dysplasia, genetic diagnosis
MeSH terms
Anodontia, Humans, Hypohidrosis, Hypotrichosis, Mutation, Signal Transduction, I-kappa B Kinase, Ectodysplasins, Edar Receptor, Ectodermal Dysplasia 1, Anhidrotic, Edar-Associated Death Domain Protein

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