A case of anhidrotic ectodermal dysplasia presenting with pyrexia, atopic eczema, and food allergy.

Authors:
Tamaho Suzuki
Tamaho Suzuki
Nippon Medical School Chiba Hokusoh Hospital
Makoto Migita
Makoto Migita
Nippon Medical School
Japan
Ruby Pawankar
Ruby Pawankar
Nippon Medical School
Bunkyō | Japan
Takeshi Yanagihara
Takeshi Yanagihara
Nippon Medical School
Japan
Atsushi Fujita
Atsushi Fujita
Kobe University Graduate School of Medicine
Japan
Yoshio Shima
Yoshio Shima
Nippon Medical School

Asia Pac Allergy 2019 Jan 14;9(1):e3. Epub 2019 Jan 14.

Department of Pediatrics, Nippon Medical School Musashi Kosugi Hospital, Kanagawa, Japan.

Anhidrotic ectodermal dysplasia (AED) is a rare hereditary disorder with a triad of sparse hair, dental hypoplasia, and anhidrosis. Here we report a case of AED with food allergy and atopic eczema. The patient was a 11-month-old boy admitted to our hospital with pyrexia for 2 weeks. He presented with a history of dry skin, eczema, and food allergy to egg. On clinical examination, his body temperature was 38.8°C, with dry skin and eczema almost all over the body, sparse eyebrows, and scalp hair. Laboratory investigations and physical examination did not show any evidence of infection. Radioallergosorbent test was positive to egg yolk, egg white, ovomucoid, milk, house dust, and house dust mite. As the child did not sweat despite the high fever, we performed the sweat test which revealed a total lack of sweat glands. Genetic examination revealed a mutation of the gene and he was diagnosed as AED. His pyrexia improved upon cooling with ice and fan. His mother had lost 8 teeth and her sweat test demonstrated low sweating, suggestive of her being a carrier of AED. Atopy and immune deficiencies have been shown to have a higher prevalence in patients with AED. Disruption of the skin barrier in patients with AED make them more prone to allergic diseases such as atopic eczema, bronchial asthma, allergic rhinitis and food allergy. Careful assessment of the familial history is essential to differentiate AED when examining patients with pyrexia of unknown origin and comorbid allergic diseases.

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Source
http://dx.doi.org/10.5415/apallergy.2019.9.e3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365661PMC
January 2019
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