APECED (autoimmune polyendocrinopathy – candidiasis – ectodermal dystrophy)

Extract

• Suspect the syndrome in all children and young adults with one or more of the following, otherwise unexplained symtoms or conditions:
  • persistent or recurrent oral candidiasis (picture 1); may also occur in the oesophagus, on the skin and in the nails
    • In mild cases rhagades of the corners of mouth only (picture 2)
  • hypoparathyroidism
  • Addison's disease.
• The first symptom or sign of APECED may be also
  • alopecia
  • chronic keratoconjunctivitis (symptoms: reddened eyes sensitive to light)
  • autoimmune hepatitis
  • recurrent fever and flashing erythema and no findings indicative of an infection
  • chronic diarrhoea or severe obstipation
  • dental enamel hypoplasia of permanent teeth (picture 3)
  • pitted nail dystrophy (picture 4)
  • pneumonitis.

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Search terms

APECED, Addison Disease, Alopecia, Candidiasis, Candidiasis, Oral, Dental Enamel Hypoplasia, Dermatology, E31, E31.00, E31.00, Endocrinology, Genetic Diseases, Inborn, Genetics, Hypocalcemia, Hypoparathyroidism, Paediatrics, angle of the mouth fissuring, chronic keratoconjunctivitis, punctuate nail dystrophy