Case Report: Dental Findings Can Aid in Early Diagnosis of APECED Syndrome.

Laurie Brenchley,Monica M Schmitt,Michail S Lionakis,Pamela J Gardner,Elise M N Ferré,Niki M Moutsopoulos

doi:10.3389/fdmed.2021.670624

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS-1), is a rare genetic disorder caused most often by biallelic mutations in the AIRE gene. Classic clinical findings of the disease are chronic mucocutaneous candidiasis and autoimmunity that primarily targets endocrine tissues, such as hypoparathyroidism and adrenal insufficiency. Recently, however, it has been appreciated that enamel hypoplasia, together with intestinal malabsorption and a characteristic APECED rash, is a prominent early disease manifestation of APECED which can aid in the diagnosis of disease before other potentially life-threatening disease manifestations occur. To demonstrate this point, we present data from a cohort of APECED patients, approximately 70% of who present with enamel dysplasia at an early age. Importantly, early life presentation with enamel dysplasia was predictive of likelihood of development of a subsequent APECED diagnosis. Furthermore, we present a case of a patient with APECED and severe enamel defects and discuss the utility of medical-dental professional co-operation in the diagnosis and management of this complex disorder.

Highlights

A growing body of evidence has suggested an association between oral manifestations and systemic disease [1, 2]
AIRE is a transcription regulator highly expressed in thymic medullary epithelial cells where it orchestrates negative selection of auto-reactive T cells [3]
While Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is commonly diagnosed by gene sequencing, not all patients with clinical APECED have biallelic AIRE mutations [5, 7, 10]

Summary

INTRODUCTION

A growing body of evidence has suggested an association between oral manifestations and systemic disease [1, 2]. Immunocompromised patients will present with various oral infection susceptibility. Often patients with numerous systemic, cutaneous and gastrointestinal inflammatory symptoms will have clinical oral manifestations. It is imperative that medical and dental professionals strengthen a collaborative understanding of common risk factors and biological findings related to oral and systemic disease. This article features clinical and diagnostic criteria and oral manifestations of Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), known as Autoimmune polyglandular syndrome type 1 (APS-1) to highlight the importance of a multidisciplinary approach in providing early diagnosis and comprehensive care to patients

Dental Findings of Apeced Syndrome

DISCUSSION

ETHICS STATEMENT