Description

Buzi et al reviewed the diagnostic criteria for autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia (APECED). The authors are from the University of Brescia and the Regional Hospital of Bolzano in Italy.


 

Synonym: autoimmune polyglandular syndrome type I (APS I)

 

Inheritance: autosomal recessive

 

Major criteria - 2 or more of the following:

(1) chronic mucocutaneous candidiasis

(2) hypoparathyroidism

(3) Addison's disease (adrenal insufficiency)

(4) mutation in the autoimmune regulator (AIRE) gene on chromosome 21q22.3

 

Associated findings may include one or more of the following:

(1) hypothyroidism

(2) hypogonadism

(3) insulin-dependent diabetes mellitus

(4) chronic active autoimmune hepatitis

(5) pernicious anemia (often juvenile onset)

(6) vitiligo

(7) alopecia

(8) biliary cirrhosis

(9) dental enamel hypoplasia (ectodermal dysplasia)

(10) pitted nail dystrophy (ectodermal dysplasia)

(11) malabsorption

(12) keratopathy

(13) calcification of the tympanic membrane

 

Onset of symptoms is during infancy or early childhood, Many of the endocrine manifestations appear during childhood or adolescence.

 


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