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.

Keywords

Melkersson-Rosenthal syndrome orofacial swelling facial nerve palsy granulomatous inflammation tongue fissuring oculoplastic clinics

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References

Elias Mateen and Weiler . The Melkersson–Rosenthal syndrome: a retrospective study of biopsied cases. J Neurol 2013 Jan 27; 260: 138–143.

Zewde

. Melkersson–Rosenthal syndrome misdiagnosed as recurrent bell’s palsy: a case report and review of the literature. Allergy Asthma Clin Immunol 2021; 17: 108.

Carolino

Fernandes

Plácido

. Melkersson–rosenthal syndrome: delay in the diagnosis of an early-onset oligosymptomatic variant. Porto Biomed J 2016; 1: 43–45.

Bohra

Kariya

Bargale

, et al. Clinicopathological significance of Melkersson–Rosenthal syndrome. BMJ Case Rep 2015; 2015: bcr2015210138.

Casper

Mohammad-Khani

Schmidt

, et al. Melkersson–rosenthal syndrome in the context of sarcoidosis: a case report. J Med Case Rep 2021; 15: 488.

Taşlıdere

Mehmetaj

Özcan

, et al. Melkersson-Rosenthal syndrome induced by COVID-19. Am J Emerg Med 2021 Mar; 41: 262.e5–262.e7.

Cancian

Giovannini

Angelini

, et al. Melkersson–rosenthal syndrome: a case report of a rare disease with overlapping features. Allergy, Asthma & Clinical Immunology 2019 Dec 5; 15: 1.

Dhawan

Saini

Singhi

. Management strategies of Melkersson-Rosenthal syndrome: a review. Int J Gen Med 2020 Feb; 13: 61–65.

Tan

Zhang

Chen

, et al. Recurrent facial palsy in melkersson rosenthal syndrome: total facial nerve decompression is effective to prevent further recurrence. Am J Otolaryngol 2015 May; 36: 334–337.

10.

Ziemssen

Rohrbach

Scherwitz

, et al. Plastic reconstructive correction of persistent orofacial swelling and swelling of the eyelids in melkersson-rosenthal syndrome. Klin Monatsbl Augenheilkd 2003; 220: 352–356.