autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED); autoimmune polyglandular syndrome type 1; Whitaker's syndrome
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Epidemiology
- reported worldwide
- exceptionally prevalent among the Finnish population (incidence 1:25000) & the Iranian jews
Genetics
- autosomal recessive
- associated with defects in AIRE
Clinical manifestations
- autoimmune polyendocrinopathies:
- chronic mucocutaneous candidiasis
- ectodermal dystrophies:
- vitiligo
- alopecia
- keratopathy
- dystrophy of dental enamel, nails & tympanic membranes
- in addition, a high proportion of patients develop squamous cell carcinoma of the oral mucosa
More general terms
- autoimmune polyglandular syndrome
- genetic syndrome (multisystem disorder)
- genetic disease of the immune system
References
- ↑ OMIM https://mirror.omim.org/entry/240300
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 16, 18. American College of Physicians, Philadelphia 2012, 2018
- ↑ NORD: National Organization for Rare Disorders https://rarediseases.org/rare-diseases/autoimmune-polyglandular-syndrome-type-1/
- ↑ Sarker I et al AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE 1: A RARE CASE REPORT AND REVIEW OF THE LITERATURE. AACE Clinical Case Reports: Spring 2017, Vol. 3, No. 2, pp. e96-e100. https://journals.aace.com/doi/full/10.4158/EP161366.CR
- ↑ Wu N Autoimmune polyglandular syndrome type 1. DermNet NZ https://dermnetnz.org/topics/autoimmune-polyglandular-syndrome-type-1/
Patient information
autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patient information