A novel AIRE gene mutation in a patient with autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy revealed by alopecia areata

Autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy (APECED) syndrome is an autosomal recessive syndrome caused by biallelic mutations in the autoimmune regulator AIRE gene.1 APECED is defined by at least 2 of the following conditions: hypoparathyroidism, chronic mucocutaneous candidiasis (CMC), and/or Addison disease.1 Dermatologic manifestations of APECED syndrome are poorly reported.