Childhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome

Abstract

Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare disorder of immune dysregulation caused by mutations in the autoimmune regulator (AIRE) gene. Individuals affected with APECED develop a clinical syndrome characterized by ectodermal abnormalities, autoantibody production, and organ-specific autoimmune manifestations. Inflammatory arthritis is usually not described as a part of the syndrome, and only sporadic cases are reported. We describe the case of a preschool-age girl who presented with hypoparathyroidism, hepatitis, interstitial pneumonitis, and chronic polyarthritis at 4 years of age and was found to have two compound heterozygous disease-associated mutations in the AIRE gene. We also conducted a literature review of the main characteristics of inflammatory arthritis in APECED patients. Our case and review demonstrate that (1) inflammatory arthritis, although rare, can be an early manifestation of APECED; (2) the diagnosis of APECED should be considered if mucocutaneous candidiasis, multiple organ-specific autoimmune manifestations, polyendocrinopathy, especially hypoparathyroidism or adrenal failure, or ectodermal dystrophy accompany joint symptoms; and (3) genotyping interpretation should take into account that mutations are found in the 14 exons of the gene, compound heterozygosity is common, and in some cases, only one or no mutated alleles are found.

Autoimmune Polyendocrine Syndromes

“…5–9 Such findings should prompt clinicians to consider the diagnosis of APS-1, especially in young persons. Rarely, retinitis, metaphyseal dysplasia, pure red cell aplasia 8 and polyarthritis 10 have been associated with APS-1 (Fig. 1).…”

Особенности Клинических Проявлений И Лечения Синдрома Шмидта

“…Именно M. Schmidt в 1926 г. впервые обнаружил сочетание болезни Аддисона и хронического лимфоцитарного тиреоидита. В 1980 г. М. Neufeld ввел термин «аутоиммунный полигландулярный синдром», выделив АПС 2-го типа как сочетание хронической надпочечниковой недостаточности (ХНН) с аутоиммунным тиреои-Клінічний випадок /Clinical Сase/ дитом (АИТ) и/или сахарным диабетом 1-го типа при отсутствии гипопаратиреоза и хронического грибкового поражения кожи и слизистых оболочек [3,4]. Распространенность АПС составляет в популяции 1,4-4,5 случая на 100 тыс.…”

“…населения, чаще он отмечается у женщин в возрасте 15-40 лет, особенно в третьей декаде жизни [5]. Большинство случаев синдрома Шмидта -спорадические, но иногда встречается семейный характер [3]. Чаще манифестирует клинической картиной первичной ХНН [6], и другое заболевание -АИТ присоединяется в среднем через 7 лет [7] практически в 50 % случаев [8,9].…”

A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1

“…APS-1 may present with other abnormities, such as primary ovarian insufficiency, vitiligo, alopecia, type 1 diabetes mellitus (T1d), chronic intestinal dysfunction, enamel hypoplasia, and autoimmune hepatitis (2,3). Pure red cell aplasia (Prca), metaphyseal dysplasia, retinitis and polyarthritis have also been reported in patients with APS-1 (4,5).…”