Hypohidrotic ectodermal dysplasia: clinical and molecular review
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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Dermatological findings in XLHED include dry, xerotic skin, eczematous lesions, and absence or thinning of eyebrows, eyelashes, and body hair.
“Dermatological findings include dry, xerotic skin, eczematous lesions, and absence or thinning of eyebrows, eyelashes, and body hair.”
From X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype (2026) · cites this paper as [11]
The skin in XLHED may have a finely wrinkled appearance, particularly around the eyes.
“The skin may have a finely wrinkled appearance, particularly around the eyes [11].”
From X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype (2026) · cites this paper as [11]
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X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype
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“The skin may have a finely wrinkled appearance, particularly around the eyes [11].”
- 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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