A Rare Case of Autoimmune Polyendocrinopathy- candidiasis-ectodermal Dystrophy Syndrome: Dental Perspective on Diagnosis and Management

Abstract

A bstract Aim To report a unique case of Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a young boy and discuss the oral health impact and management of the disease. Background Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autoimmune disorder with various clinical manifestations. Biallelic mutations in the autoimmune regulator (AIRE) gene lead to impairment of central immune tolerance and a targeted attack on various endocrine and non-endocrine organs. Patients classically suffer from a triad of disorders, including chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenocortical failure (Addison's disease). Results In recent times, it has been observed that oral manifestations of the disorder, such as enamel hypoplasia, appear early and frequently. Affected individuals require a comprehensive preventive and minimally invasive approach for oral health along with follow-up throughout their lifespan to manage potentially life-threatening disease manifestations. Conclusion Prompt recognition by a pediatric dentist can facilitate an earlier diagnosis and allow for screening, preventive and therapeutic services. Clinical Significance To deliver oral health care in an effective and comprehensive manner, clinicians should be able to recognize, diagnose and manage the signs and symptoms of the disease. How to cite this article Tyagi R, Kalra N, Khatri A, et al. A Rare Case of Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy Syndrome: Dental Perspective on Diagnosis and Management. Int J Clin Pediatr Dent 2023;16(1):139-146.