Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy
Abstract
Objective To re-evaluate the mortality of hypohidrotic ectodermal dysplasia (HED) and the prevalence of hyperpyrexia and possible neurological sequelae in affected infants.Study design A cross-sectional postal survey was conducted among parents of 100 children with ectodermal dysplasia who had been registered with the German-Swiss-Austrian patient support group at any time point within the past 10 years. Detailed questionnaires referring to the first year of life were evaluated statistically.Results 63% of parents returned completed surveys, identifying 57% of children as patients with X-linked HED and 20% as patients with autosomal HED or HED of unknown origin. Of those two groups, 17 infants had been placed in an incubator after birth, where body temperature recording proved to be of utmost importance. In 94% of all HED patients, episodes of unexplained fever were observed during the first year of life. X-linked HED was associated with frequent airway infections. Febrile seizures occurred in 5.9% of infants with X-linked HED and in 17% of the other HED patients. Developmental retardation was reported for 15% and 25%, respectively. Prognosis depended on the type of genetic defect and the time point of diagnosis. Except for one all patients survived infancy. Early recognition of the disease was aided by vigilant neonatal care and consulting a dermatologist or geneticist. Adequate instruction of the parents and networking with patient support groups also reduced the risks associated with HED.Conclusions Today, mortality of HED and the risk of hyperthermic brain damage are still increased, but lower than reported previously.
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XLHED carries susceptibility to life-threatening hyperthermia due to impaired thermoregulation.
“There is also a susceptibility to life‐threatening hyperthermia due to impaired thermoregulation [4, 5].”
From X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype (2026) · cites this paper as [5]
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(2024) · Frontiers research topics · doi:10.3389/978-2-8325-4928-5
Anhydrotic ectodermal dysplasia at tertiary care centre in western region of India
Rime, M., Modha, J. D., Bhuptani, N., & Patel, B. K. (2024) · IP Indian Journal of Clinical and Experimental Dermatology · doi:10.18231/j.ijced.2024.056
Grange, D. K. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-812531-1.00017-8
Rare disease in neonatology: Ectodermal dysplasia as Christ – Siemens – Touraine syndrome
Vaganova, V. S., Николаевна, Г. С., Kireu, A. Z., Malinina, E. I., & Борисовна, Х. Е. (2024) · Meditsinskiy sovet = Medical Council · doi:10.21518/ms2024-356
Broad Phenotypic Spectrum of Ectodermal Dysplasias in Childhood and Adolescence
Guazzarotti, L. (2024) · Springer eBooks · doi:10.1007/978-3-031-75790-7_14
Schneider, H., & Schneider, P. (2024) · Springer eBooks · doi:10.1007/978-3-031-75790-7_16
Self-citationX-Linked Hypohidrotic Ectodermal Dysplasia: Clinical Features
Visinoni, Á. F., & Pagnan, N. A. B. (2024) · Springer eBooks · doi:10.1007/978-3-031-75790-7_4
Epidemiology of Ectodermal Dysplasias
Pezzani, L., & Milani, D. (2024) · Springer eBooks · doi:10.1007/978-3-031-75790-7_1
Risk of Death, Infections, and Hyperthermia in Ectodermal Dysplasias: A Nationwide Study
Herlin, L. K., Schmidt, S. A. J., Mogensen, T. H., & Sommerlund, M. (2025) · Acta Dermato Venereologica · doi:10.2340/actadv.v105.43101
Dysplasie ectodermique hypohidrotique liée au chromosome X
Boulanger, J., Bursztejn, A. ‐., & Hadj-Rabia, S. (2025) · Annales de Dermatologie et de Vénéréologie - FMC · doi:10.1016/j.fander.2025.03.007
Hennig, V., Schuh, W., Neubert, A. C., Mielenz, D., Jäck, H.-M., & Schneider, H. (2021) · Figshare · doi:10.6084/m9.figshare.16569985
Self-citationA narrow time-window for WNT, EDA, and SHH signaling during postnatal sweat gland development
Dernai, J., Wohlfart, S., Peschel, N., Daniel, C., Schneider, H., & Park, J. (2026) · Gene · doi:10.1016/j.gene.2026.150247
Self-citationBachfischer, A., Berking, C., Hadj-Rabia, S., Siméoni, U., David, A. L., & Schneider, H. (2026) · Frontiers in Pediatrics · doi:10.3389/fped.2026.1934287
Self-citation
- Authors
- Blüschke, G., Nüsken, K.-D., & Schneider, H.
- Affiliations
- Innsbruck Medical University (AT)
- Universitätsklinikum Erlangen (DE)
- Corresponding author
- Schneider, Holm
- Venue
- Early Human Development
- Publisher
- Elsevier BV
- Published
- 2010-07
- Volume
- 86
- Issue
- 7
- Pages
- 397-399
- ISSN
- 0378-3782 (ISSN-L)
- OpenAlex
- W2055304500
- Cited by
- 97
- References
- 11
- Citations by year
- 2026: 4 · 2025: 4 · 2024: 12 · 2023: 6 · 2022: 7 · 2021: 8 · 2020: 6 · 2019: 6 · 2018: 5 · 2017: 2 · 2016: 5 · 2015: 7 · 2014: 9 · 2013: 5 · 2012: 9
- FWCI
- 2.08
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Early Human Development (publishedVersion)
- PubMed (publishedVersion)
- Funders
- German–Swiss–Austrian ectodermal dysplasia patient support group
- 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.
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Keywords
- hypohidrotic ectodermal dysplasia, X-linked hypohidrotic ectodermal dysplasia, infant mortality, hyperpyrexia, febrile seizures, airway infection, developmental delay, neonatal care, early diagnosis, patient support groups, parental education
- MeSH terms
- Body Temperature Regulation, Developmental Disabilities, Seizures, Febrile, Cross-Sectional Studies, Ectodermal Dysplasia, Fever, Humans, Hypohidrosis, Infant, Intellectual Disability, Prevalence, Ectodysplasins
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