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APECED Demystified

Secondary disease components might appear before (or even without) the classic symptoms.

An autosomal recessive syndrome characterized by autoimmune polyendocrinopathy (APE), candidiasis (C), and ectodermal dystrophy (ED) is of interest to both specialists and generalists. Mutations in the AIRE autoimmune regulator gene have been found to be the cause. The author of this report details the cases of 91 Finnish patients whom he treated or studied during four decades.

The three classic symptoms of APECED are candidiasis, hypoparathyroidism, and adrenal failure. Diagnosis requires the presence of at least two of these symptoms (the diagnostic dyad). The diagnostic dyad was noted at a median patient age of 7.5 years; by age 20, 94% of patients had such a dyad. Also by age 20, many patients had developed a variety of secondary disorders, endocrine and otherwise, including alopecia areata (33%), keratoconjunctivitis (21%), vitiligo (20%), and fever with rash (14%). The rashes were fleeting eruptions of varying descriptions; in two patients, they occurred with arthralgia and lymphoplasmacytic vasculitis. It is important to note that 33% of the alopecia areata and 22% of the vitiligo occurred before the diagnostic dyad. Candidiasis was present in 94% of patients by age 20; the nails and mouth were commonly involved, and 15% of patients had symptoms of esophageal involvement, including substernal pain. Four patients died from oral or esophageal squamous cell carcinoma.

Comment: APECED occurs worldwide but is most common in Finns, Iranian Jews, and Sardinians. "Ectodermal dystrophy" is a most unfortunate designation, as the term might lead to confusion with well-defined genetic defects of epidermal development and differentiation, but a bad name is hard to shed. Cutaneous signs of alopecia areata or vitiligo, especially in pediatric patients, should alert clinicians to the possible presence of APECED. Genetic testing for AIRE mutations is available but should be done only when there is a highly likely presumption of APECED.

— Lowell A. Goldsmith, MD, MPH

Published in Journal Watch Dermatology October 6, 2006

Citation(s):

Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 2006 Aug; 91:2843-50.

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