Melkersson–Rosenthal Syndrome in three affected siblings suggesting possible genetic predisposition: a case report

Abstract

Melkersson–Rosenthal Syndrome (MRS) is a rare idiopathic neuro-mucocutaneous disorder characterized by the classic triad of recurrent facial palsy, orofacial edema, and fissured tongue. The exact etiology remains uncertain, with potential genetic, inflammatory, and infectious components contributing to its development. This case series aims to analyze the clinical presentation, treatment response, and possible genetic factors in MRS. We report three affected siblings of Sudanese African ethnicity diagnosed with MRS: Case 1 (male, current age 32 years, presented at age 20 years), Case 2 (female, current age 31 years, presented at age 22 years), and Case 3 (female, current age 27 years, presented at age 23 years), highlighting varying treatment responses. While Case 1 showed rapid resolution with a short corticosteroid course (prednisone 60 mg/day × 5 days) and complete recovery, Cases 2 and 3 required prolonged corticosteroid therapy (> 8 weeks) with incomplete recovery and side effects (steroid-induced acne, fatigue). Family pedigree analysis suggests possible genetic predisposition, though no genetic testing was performed. This case series highlights the heterogeneity of MRS in terms of clinical presentation and steroid response. The differences observed suggest a potential genetic component that warrants further investigation. Additionally, the observed gender-based variations in treatment response suggest that hormonal or immunological factors may affect disease progression and therapeutic outcomes.