Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes
Open accessAbstract
Background Ectodermal dysplasia (ED) syndromes are a diverse group of disorders that affect multiple ectodermally derived tissues. Small studies and case reports suggest an increase in atopy and primary immunodeficiencies (PIDs) among patients with ED syndromes. Objective To determine the prevalence of clinical symptoms suggestive of atopy or immunodeficiency among a large cohort of children with ED syndromes. Methods A 9-page questionnaire was mailed to families who were members of the National Foundation for Ectodermal Dysplasias. The surveys were completed by parents of children younger than 18 years with a diagnosis of an ED syndrome or carrier state. Portions of the questionnaire were adapted from previously validated questionnaires developed by the International Study of Asthma and Allergies in Childhood (ISAAC). Results We received 347 completed questionnaires (41%). When compared with the 13- to 14-year-old children surveyed by ISAAC, we found both all-aged and age-matched children with ED syndromes, respectively, had significantly higher rates of asthma (32.2% and 37.2% vs 16.4%), rhinitis symptoms (76.1% and 78.3% vs 38.9%), and eczema (58.9% and 48.9% vs 8.2%). The prevalence of physician-diagnosed food allergies (20.7%) and PIDs (6.1%) in these ED patients also exceeded known rates in the general pediatric population. Conclusion This large-scale, retrospective study demonstrates a greater reported prevalence of symptoms suggestive of atopic disorders and PIDs among children with ED syndromes than the general pediatric population. A combination of genetic and environmental factors in ED syndromes may contribute to breaches of skin and mucosal barriers, permitting enhanced transmission and sensitization to irritants, allergens, and pathogens.
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An association with atopic eczema is often observed in two-thirds of patients with hypohidrotic ectodermal dysplasia.
“An association with atopic eczema is often observed in two-thirds of the patients.[9]”
From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [9]
The Results report eczema in 58.9% of surveyed children with ectodermal dysplasia syndromes, supporting a frequent association. They do not report a two-thirds prevalence specifically among patients with hypohidrotic ectodermal dysplasia; the study covers multiple syndromes, and its eczema finding is based on questionnaires rather than confirmed diagnoses. (LLM, conf=0.88)
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Cites
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Therapeutic implications of sex differences in asthma and atopy
Osman, M. (2003) · Archives of Disease in Childhood · doi:10.1136/adc.88.7.587 · Cited by 171 · see citing works
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Ectodermal Dysplasia – An Overview and Update
Dev, A., Malhi, K., & Mahajan, R. (2024) · Indian Dermatology Online Journal · doi:10.4103/idoj.idoj_599_23 · Cited by 19 · see citing works
“[9] The most common complication that one should be aware of is hyperthermia, [7,10] as a result of diminished sweating, which may result in heat stroke in infants, which can even lead to death.”
BackgroundPrevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark
Herlin, L. K., Schmidt, S. A. J., Hermann, X. B., Rønholt, K., Bygum, A., Schuster, A., Lei, U., Mogensen, M., Vinding, G. R., Djursby, M., et al. (2024) · JAMA Dermatology · doi:10.1001/jamadermatol.2024.0036 · Cited by 14 · see citing works
- Authors
- Mark, B. J., Becker, B. A., Halloran, D. R., Bree, A. F., Sindwani, R., Fete, M. D., Motil, K. J., Srun, S. W., & Fete, T. J.
- Affiliations
- Saint Louis University (US)
- Baylor College of Medicine (US)
- Cleveland Clinic (US)
- National Foundation for Ectodermal Dysplasias (US)
- University of Missouri (US)
- Corresponding author
- Fete, Timothy J.
- ORCID
- Venue
- Annals of Allergy, Asthma & Immunology
- Publisher
- Elsevier BV
- Published
- 2012-06
- Volume
- 108
- Issue
- 6
- Pages
- 435-438
- ISSN
- 1081-1206 (ISSN-L)
- PMC
- PMC3775340
- OpenAlex
- W1997604957
- Cited by
- 38
- References
- 2
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 4 · 2023: 2 · 2022: 3 · 2021: 4 · 2020: 5 · 2019: 3 · 2018: 3 · 2017: 1 · 2016: 2 · 2015: 4 · 2014: 2 · 2012: 1
- FWCI
- 0.84
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Annals of Allergy Asthma & Immunology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Center for Research Resources (KL2RR024994)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (L40 HD054129, K08HD061484)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Physiology › Asthma and respiratory diseases
- Keywords
- atopic diseases, primary immunodeficiency, asthma, rhinitis, atopic dermatitis, food allergy, prevalence, children, allergen sensitization
- MeSH terms
- Adolescent, Allergens, Asthma, Child, Child, Preschool, Dermatitis, Atopic, Ectodermal Dysplasia, Eczema, Female, Food Hypersensitivity, Humans, Hypersensitivity, Immediate, Immunologic Deficiency Syndromes, Male, Mucous Membrane, Surveys and Questionnaires, Retrospective Studies, Rhinitis, Skin, United States, Cohort Studies, Prevalence
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