Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare, autosomal recessive disease characterized by the onset of mucocutaneous candidiasis in childhood, followed by hypoparathyroidism, and in a subset of patients, alopecia and other endocrinopathies and autoimmune diseases. There is no known treatment to mitigate the course of the disease.
Goal:To describe the outcomes in a woman with APECED who presented later in her life with Sjogren's disease and alopecia totalis, and was treated with hydroxychloroquine (HCQ). HCQ was in addition to treatment regimens for mucocutaneous candidiasis with esophageal stricture, hypoparathyroidism, insulin-dependent diabetes, hypothyroidism, B12 deficiency, and autoimmune hepatitis.
Methods:Office visits, laboratory studies, including genetic characterization of her disease; and review of available medical records.
ManuscriptAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare, autosomal recessive disease classically characterized by the onset of mucocutaneous candidiasis in childhood, followed by hypoparathyroidism, and in a subset of patients, adrenal insufficiency. Dental complications such as enamel hypoplasia are well recognized, and other autoimmune diseases frequently mark the lives of these patients including alopecia, pernicious anemia, malabsorption syndromes, autoimmune hepatitis and keratoconjunctivitis. What is striking about the autoimmunity in APECED is its predilection to cause sequential dysfunction of endocrine glands, such that an individual may suffer from insulin-dependent diabetes, hypothyroidism and hypogonadism in addition to the hypoparathyroidism and adrenal insufficiency that herald this disorder. What is also striking is the relentless progression of disease that may burden an individual life [1,2]. Particularly disheartening in this illness may be the occurrence of alopecia.This case study reports the reversal of alopecia in a woman with APECED using hydroxychloroquine (HCQ), and describes the impact HCQ has in diminishing some other features of this disease. Started on HCQ in late 2007, she had gradual re-growth of her hair, easing of the sicca symptoms in her mouth, and improvement in other parameters of APECED. This is the first report of HCQ being used in this disorder, and of its efficacy.
Case ReportE.L. is a 58-year-old white female, born in Boston in 1955 to parents with no evidence of consanguinity, or clear Finnish or European ancestry. One of 5 children, E.L shares this genetic imprint with two other siblings, although their manifestations are remarkably different and neither sibling has alopecia. E.L. remembers the onset of oral candidiasis in primary or middle school. Dental abnormalities (presumed incongruities in the enamel) are mentioned later in her records, when it is reported that she presented with tetany age 14 years (1970), and was diagnosed with hypoparathyroidism at that time. Her older brother had been identified with hypocalcemia (calcium 5.2 mg/ dL)...