title: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy presenting with severe keratopathy in an Egyptian patient with a homozygous R139X mutation.
abstract: OBJECTIVE
  To report a patient with an unusual presentation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and severe keratopathy.
  
  
  METHODS
  An Egyptian male sustained an injury to the left eye at 13 years of age and was found to have corneal damage which was attributed to the injury. Subsequently, however, he continued to have sore eyes with photophobia. A year later he became weak with pigmentation and episodes of collapse, and investigation showed that he had Addison's disease together with mucocutaneous candidiasis. At 15 years of age he developed carpo-pedal spasm and was found to have hypoparathyroidism with intracranial calcification. At 20 years of age the ophthalmic diagnosis was revised to keratopathy by which time the patient had corneal opacity and problems with visual acuity, especially in the right eye. Investigation at 22 years of age showed that he was homozygous for an R139X mutation in the gene encoding the AIRE protein, a mutation which to date has only been found in Sardinian patients.
  
  
  CONCLUSIONS
  Keratopathy can be an early and severe manifestation of APECED, requiring expert ophthalmic care. Its presence should prompt a search for other components of APECED, some of which are life-threatening.
authors.affiliation: Maadi Hospital, Cairo, Egypt.
authors.forename: Sameh
authors.initials: S
authors.lastname: Tawfik
authors.forename: Mohammed Abd
authors.initials: MA
authors.lastname: Azim
authors.forename: Part
authors.initials: P
authors.lastname: Peterson
authors.forename: Malcolm D C
authors.initials: MD
authors.lastname: Donaldson
mesh_terms: D000328:Adult; D005091:Exons; D005123:Eye / Q000473:pathology; D005128:Eye Diseases / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein