音声学と聴覚学ジャーナル
オープンアクセス

概要

Hydroxychloroquine Reverses Alopecia in Autoimmune Polyendocrinopathy- Candidiasis-Ectodermal Dystrophy (APECED): A Case Report

Margaret Seton

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.
Findings: HCQ gradually reversed her hair loss, eased her oral sicca symptoms, and ameliorated other manifestations of this disease.
Conclusion: HCQ may prove effective in patients with APECED in easing the burden of their disease, and improving quality of life.