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[One case of type 1 auto-immune polyendocrinopathy or APECED].

E Puzenat¹, L Pepin, A-M Bertrand

¹Service de Dermatologie, CHU Saint-Jacques, 4, place Saint-Jacques, 25030 Besançon Cedex, France. e1puzenat@chu-besancon.fr

Annales De Dermatologie Et De Venereologie

|December 8, 2010

Summary

Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy (APECED) is a rare genetic disorder. Early diagnosis by dermatologists is crucial as chronic candidiasis is a common early symptom.

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Area of Science:

Genetics
Immunology
Dermatology

Background:

Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy (APECED) is a rare autosomal recessive disorder.
It is caused by mutations in the autoimmune regulator (AIRE) gene.

Observation:

A case of an 18-year-old girl with APECED is presented.
She exhibited diffuse alopecia, nail and dental enamel dystrophy, angular cheilitis, and a history of autoimmune endocrine failures and chronic mucocutaneous candidiasis.

Findings:

Genetic analysis revealed a c.769C>T homozygous mutation in exon 6 of the AIRE gene.
The patient presented with classic APECED symptoms including autoimmune endocrine failure, chronic mucocutaneous candidiasis, and ectodermal abnormalities.

Implications:

APECED is a potentially life-threatening autoimmune condition.
Chronic mucocutaneous candidiasis is a frequent early indicator in pediatric cases.
Dermatologists play a key role in the initial diagnosis of APECED syndrome.