Melkersson-Rosenthal syndrome: highlighting a diagnostic dilemma and future insights for a well-established genetic basis. A literature review

Abstract

Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurring orofacial swelling, fissured tongue and recurring facial palsy. The etiology of Melkersson-Rosenthal syndrome remains unclear with attempts to understand its genomics. It is a likely disease to be misdiagnosed and improperly managed. Owing to the diverse incidence of clinical features, the histological variability and the similarity with other diseases and conditions, this review aims to spotlight a diagnostic dilemma in Melkesson-Rosenthal syndrome and proposes a scheme that could help in a better diagnosis. Moreover, it presents an overview about its genetics and provides future insights about the worldwide cooperative efforts for reaching a more comprehensive genetic basis. The literature was thoroughly searched and a proposal scheme for diagnosis was formulated and presented. Also, previous studies that analyzed its genetics were demonstrated and their limitations were noted. Setting proposals for rare diseases diagnosis as Melkersson-Rosenthal syndrome is of high clinical relevance to improve the skills of experts in this field and consequently achieve timely and proper disease management. International collaborations with larger cohorts and advanced genomic technologies for studying rare diseases are promising directions for establishing a well-documented genetic basis in order to enhance timely patient management, disease prognosis, and supplement the emerging efforts in precision medicine.