The Melkersson-Rosenthal syndrome: a retrospective study of biopsied cases.

Abstract

Melkersson-Rosenthal syndrome (MRS) is a rare neuromucocutaneous syndrome marked by the triad of recurrent nonpitting orofacial edema, fissured dorsal tongue (lingua plicata), and lower motoneuron facial paralysis. Large case series including treatment are limited. A retrospective records review was performed for the diagnoses Melkersson-Rosenthal syndrome, granulomatous cheilitis, and orofacial granulomatosis, confirmed by noncaseating granulomas on biopsy, at the Mayo Clinic in Rochester, Minnesota (1979-2009). There were 72 patients [51 women (71 %), mean age at presentation 39 years (range 8-79)] identified with facial edema with noncaseating granulomas on skin biopsy. Lingua plicata occurred in 34 cases (47 %, 95 % confidence interval 35.3-59.3 %). Unilateral or partial facial nerve palsy occurred in 14 cases (19.4, 95 % confidence interval 11.4-30.8 %). Comorbidities among those with facial edema included periodontal disease (n = 10, 14 %), history of allergic disease (n = 10, 14 %), Crohn's Disease (n = 6, 8 %), migraine headaches (n = 5, 7 %), and systemic lupus erythematosus (n = 2, 3 %). There were no patients who had low C1q or C4 levels among those who were tested. Overall, the full triad canonical of Melkersson-Rosenthal syndrome was observed in nine patients (seven female, median age at symptomatic presentation 35 years (range 10-74 years), 13 %, (95 % confidence interval 6.2-22.9 %) with a median time from first symptoms to diagnosis of 4 years (range 1-35). The medication treatments attempted in the nine patients with the full triad of symptoms included non-steroidal anti-inflammatory drugs, oral and intra-lesional steroids, metronidazole, dapsone, acyclovir, methotrexate, and thalidomide with no consistent treatment responses. The Melkersson-Rosenthal syndrome may present over the course of most of the lifespan and may require several years of observation to be diagnosed. Neurologists who observe a combination of facial edema and facial palsy in a patient should consider the diagnosis of MRS and proceed to a diagnostic skin biopsy and a trial of steroid treatment for their patient.