Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.

Clarke, A; Phillips, D I; Brown, R; Harper, P S

doi:10.1136/adc.62.10.989

Cited by 274dental development and anomaliesImmunodeficiency and Autoimmune DisordersGenetic and rare skin diseases.

Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.

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Clarke, A, Phillips, D I, Brown, R, Harper, P S·1987·Archives of Disease in Childhood

DOI 10.1136/adc.62.10.989PMC PMC1778691

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Abstract

Boys with X-linked hypohidrotic ectodermal dysplasia and their families were studied. Many suffered severe illness in early childhood and nearly 30% died; many had feeding problems, severe fever, atopic disease, and recurrent respiratory infections. Some infants failed to thrive. We found no consistent common endocrine or immunological abnormality, although, most had abnormal immunoglobulin production. This may be related to the abnormal mucosa of the gastrointestinal and respiratory tracts which exacerbates the chronic obstructive airways disease found later in life in those who smoke. Mental handicap was not a feature, although convulsions sometimes occurred during fever. Early diagnosis is important to avoid attacks of severe fever and so that rational management may be planned for other problems that arise. Dental advice should be sought before school age and genetic counselling may also be required. Many female carriers may be recognised at clinical examination: their affected sons can then be diagnosed more readily.

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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 [3]
The Results report prolonged high fevers in affected infants and early-childhood deaths; the Results and Discussion also describe reduced sweating, heat intolerance, and overheating. The paper does not establish that hyperthermia caused the reported deaths, so the life-threatening causal link is not fully supported. (LLM, conf=0.82)
Experimental — accuracy not yet measured
XLHED follows an X-linked recessive inheritance pattern and predominantly affects males, while heterozygous females may show variable, milder phenotypes.
“The disorder follows an X‐linked recessive inheritance pattern and thus predominantly affects males, while heterozygous females may show variable, milder phenotypes [3].”
From X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype (2026) · cites this paper as [3]

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[4]4. 4Halperin SL, Curtis GM. Anhidrotic ectodermal dysplasia associated with mental deficiency. Am J Ment Defic 1942;46:459-63.
[9]9. 9Webster ADB, Efter T, Asherson GL. Escherichia coli anti- body: a screeing test for immunodeficiency. Br Med J 1974;91:97-104.
[17]17. Correspondence to Dr A Clarke, Department of Human Genetics, University of Newcastle upon Tyne NE2 4AA. Received 10 April 1987 on July 20, 2023 by guest. Protected by copyright. http://adc.bmj.com/ Arch Dis Child: first published as 10.1136/adc.62.10.989 on 1 October 1987. Downloaded from

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Authors: Clarke, A., Phillips, D. I., Brown, R., & Harper, P. S.
Affiliations: Cardiff University (GB)
ORCID: Clarke, A
Harper, P S
Venue: Archives of Disease in Childhood
Publisher: BMJ
Published: 1987-10-01
Volume: 62
Issue: 10
Pages: 989-996
ISSN: 0003-9888 (ISSN-L)
1468-2044
DOI: 10.1136/adc.62.10.989
PMC: PMC1778691
OpenAlex: W2039425105
Cited by: 274
References: 13
Citations by year: 2026: 4 · 2025: 6 · 2024: 8 · 2023: 2 · 2022: 7 · 2021: 10 · 2020: 10 · 2019: 10 · 2018: 13 · 2017: 6 · 2016: 13 · 2015: 11 · 2014: 18 · 2013: 12 · 2012: 13
FWCI: 2.89
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Archives of Disease in Childhood (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
Funders: University of Warwick
Newcastle University
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
Keywords: X-linked hypohidrotic ectodermal dysplasia, hypohidrotic ectodermal dysplasia, child mortality, feeding difficulties, recurrent respiratory infections, atopic diseases, antibody production, chronic obstructive pulmonary disease, smoking, fever, convulsions, early diagnosis, genetic counseling, female carriers, dental care
MeSH terms: Adolescent, Child, Developmental Disabilities, Child, Preschool, Ectodermal Dysplasia, Female, Genetic Carrier Screening, Humans, Hypohidrosis, Infant, Genetic Linkage, Male, X Chromosome

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Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.

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