FaCD Online Syndrome Fact Sheet

Last updated: 06 Feb 2008

Name: Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy

Synonym: APECED

Mode of Inheritance: AR

Genes

AIRE, mapped to 21q22.3

Tumor features

esophagus, squamous cell cancer of the
intraoral squamous cell cancer

Non-tumor features

alopecia
autoimmune disease
candidiasis
cataract
dental abnormalities
diabetes mellitus
hypogonadism
hypoparathyroidism
hypothyroidism
keratopathy
nails, dystrophic

Comment

This rare autoimmune disorder mainly affects the endocrine glands (parathyroid glands(85 %), adrenal cortex(72 %) and ovaries(60 %)) and is associated with enamel hypoplasia (77%), nail dystrophy(52 %), keratopathy (22%) and candidiasis(100 %). Oral squamous cell cancer and fulminant autoimmune hepatitis are the most life-threatening complications.[1-3]. Perheentupa reported oral or esophageal squamous cell carcinoma in 10% of patients older than 25 yr in a relatively large Finnish series[4].

References

[1] Bjorses P, Aaltonen J, Horelli-Kuitunen N, Yaspo ML, Peltonen L. Gene defect behind APECED: a new clue to autoimmunity. Hum Mol Genet 1998; 7(10):1547-1553.
[2] Firth NA, O'Grady JF, Reade PC. Oral squamous cell carcinoma in a young person with candidosis endocrinopathy syndrome: a case report. Int J Oral Maxillofac Surg 1997; 26:42-44.
[3] McGurk M, Holmest M. Chronic muco-cutaneous candidiasis and oral neoplasia. J Laryng otol 1988; 102:643-645.
[4] Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. The Journal of clinical endocrinology and metabolism 2006; 91(8):2843-50.