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

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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

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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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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: Health Sciences › Dentistry › General Dentistry › dental development and anomalies
Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
Health Sciences › Medicine › Dermatology › 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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