Clinicians have typically relied on three symptoms to diagnose a condition found in children called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): 1) chronic noninvasive Candida infections of the skin, nails, and mucous membranes; 2) hypoparathyroidism; and 3) adrenal insufficiency.This research found that a diagnosis could be made earlier by using these three clinical symptoms instead-- 1) APECED rash—which is one of the earliest manifestations of APECED syndrome, 2) reduction in tooth enamel thickness or poor-quality tooth enamel (enamel hypoplasia) and 3) intestinal dysfunction. Earlier diagnosis results in earlier monitoring and treatment of potentially life-threatening complications of APECED syndrome.
What is exciting about this article?
Using a different clinical algorithm for diagnosing APECED syndrome can speed up the rate of diagnosis in affected children. In addition, earlier diagnosis of APECED can lead to closer monitoring and accelerated management of serious complications of this disease.
Research reported in this publication was supported by the Intramural Research Program of the NIHʼs National Institute of Arthritis and Musculoskeletal and Skin Diseases.