The Hospital for Children and Adolescents, Helsinki University Hospital, FIN-00029 Helsinki, Finland
Address all correspondence and requests for reprints to: Jaakko Perheentupa, Merikatu 3A2, FIN-00140 Helsinki, Finland. E-mail: jaakko.perheentupa{at}saunalahti.fi.
Context: Autoimmune polyendocrinopathy-candidiasis-ectodermaldystrophy is known as a rare hereditary disease with classictriad of mucocutaneous candidiasis, hypoparathyroidism, andadrenocortical failure, two of which, diagnostic dyad, are requiredfor the diagnosis. Evidently many patients suffer unrecognizedbecause the condition is more variable and complex.
Objective: The objective of the study was to describe the variabilityof autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophyfor promoting recognition and adequate follow-up of patients.
Setting: The Finnish series of patients is the largest internationally.
Patients: The study population was all 91 known Finnish patients.
Results: Besides the classical triad, a dozen autoimmune endocrineand other components occurred variably, several of them dangerous.The initial manifestation appeared within the age range of 0.2–18yr, mucocutaneous candidiasis being part of it in 60% of thepatients, hypoparathyroidism in 32%, and adrenocortical failurein 5%. But 23% of the patients had one to six other componentsbefore the diagnostic dyad: hepatitis, keratoconjunctivitis,chronic diarrhea, periodic rash with fever. The dyad appeared0.2–20 yr later. Prevalence of most components increasedwith age, diabetes mellitus, hypothyroidism, and testicularfailure becoming common toward middle age. Tubulointerstitialnephritis occurred in 9% of the patients, apparent mineralocorticoidexcess in 9%, asplenia in 19% of adults, and oral or esophagealsquamous cell carcinoma in 10% of patients older than 25 yr.
Conclusions: Any child or young adult with one of the many diseasecomponents should be examined for others and consideration ofAIRE mutation assay.
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