Is Melkersson-Rosenthal syndrome underdiagnosed in oculoplastic clinics?

Abstract

Purpose

Melkersson-Rosenthal Syndrome is a rare neuro-mucocutaneous disease characterised by recurrent orofacial swelling, facial palsy and lingua plicata. Patients often do not present with the complete triad of symptoms which can make this a diagnostic challenge. We present three cases of suspected MRS seen in our tertiary eye unit, highlighting the challenges in diagnosis and management of MRS.

Case descriptions

Case 1 is a 54-year-old female with a background of neuro-sarcoidosis who presented with a several year history of bilateral upper lid swelling and recurrent facial nerve palsy. She experienced complete resolution of symptoms after a period of observation.

Case 2 is a 49-year-old female who had a one-year history of recurrent facial nerve palsy associated with facial, neck and lip swelling. She was treated with oral steroids but did not experience complete remission.

Case 3 is a 74-year-old female who presented with an 18-month history of bilateral peri-orbital swelling. Biopsy of skin and orbicularis showed granulomatous inflammation. She was treated with oral non-steroid anti-inflammatories as well as topical and oral steroids but without complete resolution.

Conclusion

MRS is a rare but important differential in patients with recurrent peri-orbital swelling. Given the recurrent nature of MRS and its associations with severe systemic diseases, early recognition and a multi-disciplinary approach is essential to diagnosis and management.