Fax +41 61 306 12 34 E-Mail karger@karger.ch www.karger.com Case Report Horm Res 2005;64:96–99 DOI: 10.1159/000088307 Autoimmune Polyendocrinopathy-Candidiasis- Ectodermal Dystrophy Presenting with Severe Keratopathy in an Egyptian Patient with a Homozygous R139X Mutation Sameh Tawfik a Mohammed Abd Azim b Part Peterson c Malcolm D.C. Donaldson d a Maadi Hospital and b Kobri Al Kobba Hospital, Cairo, Egypt; c University of Tampere, Tampere, Finland; d University of Glasgow, Glasgow, Scotland, UK 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. Copyright © 2005 S. Karger AG, Basel Introduction Autoimmune-polyendocrinopathy-candidiasis-ecto- dermal dystrophy (APECED) is a rare autosomal reces- sive disorder usually comprising at least two of three main features – Addison’s disease, hypoparathyroidism and chronic mucocutaneous candidiasis. Other endocrine au- toimmune disorders include hypergonadotrophic hypo- gonadism, type-1 diabetes, autoimmune thyroid disease, and hypophysitis. APECED also results in non-endocrine disorders, such as ectodermal dystrophy, alopecia, viti- ligo, pernicious anaemia, chronic atrophic gastritis, malabsorption, and chronic active hepatitis [1, 2] . The disease usually occurs in early childhood but new tissue- specific symptoms may appear throughout a patient’s life- time. Immunologically, APECED is characterised by the formation of autoantibodies against organs and also tis- sue-specific enzymes, including some of the steroidogen- Key Words Autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy  Addison’s disease  Hypoparathyroidism  Mucocutaneous candidiasis  Keratopathy Abstract Objective: To report a patient with an unusual presenta- tion of autoimmune polyendocrinopathy-candidiasis-ec- todermal dystrophy (APECED) and severe keratopathy. Case History: 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. Sub- sequently, however, he continued to have sore eyes with photophobia. A year later he became weak with pigmen- tation and episodes of collapse, and investigation showed that he had Addison’s disease together with mu- cocutaneous candidiasis. At 15 years of age he devel- oped carpo-pedal spasm and was found to have hypo- parathyroidism with intracranial calcification. At 20 years of age the ophthalmic diagnosis was revised to keratop- athy 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 ho- mozygous for an R139X mutation in the gene encoding the AIRE protein, a mutation which to date has only been Received: February 18, 2005 Accepted: July 1, 2005 Published online: September 13, 2005 HORMONE RESEARCH Dr. M.D.C. Donaldson Department of Child Health, Royal Hospital for Sick Children Yorkhill, Glasgow G3 8SJ, Scotland (UK) Tel. +44 141 201 0241, Fax +44 141 201 0837 E-Mail mdcd1t@clinmed.gla.ac.uk © 2005 S. Karger AG, Basel 0301–0163/05/0642–0096$22.00/0 Accessible online at: www.karger.com/hre