Asia Pac Allergy.  2019 Jan;9(1):e3. 10.5415/apallergy.2019.9.e3.

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

• Suzuki T
• Tajima H
• Migita M
• Pawankar R
• Yanagihara T
• Fujita A
• Shima Y
• Yanai E
• Katsube Y

• KMID: 2433664
• DOI: http://doi.org/10.5415/apallergy.2019.9.e3

Abstract

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 EDA 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.

Keyword

Anhidrotic ectodermal dysplasia; Pyrexia; Chronic eczema; Food allergy

MeSH Terms

Asthma
Body Temperature
Child
Dermatitis, Atopic*
Dust
Ectodermal Dysplasia*
Eczema
Egg White
Egg Yolk
Eyebrows
Fever*
Food Hypersensitivity*
Hair
Humans
Hypohidrosis
Ice
Infant
Male
Milk
Mothers
Ovomucin
Ovum
Physical Examination
Prevalence
Pyroglyphidae
Radioallergosorbent Test
Rhinitis, Allergic
Scalp
Skin
Sweat
Sweat Glands
Sweating
Tooth
Dust
Ice
Ovomucin