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Updated: Sep 30, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Melkersson-Rosenthal syndrome: a rare variant of the monosymptomatic form
Carolina Tagliari Estacia1, Aluisio Rosa Gameiro Filho2, Izadora Bouzeid Estacia da Silveira3
1Hospital Federal dos Servidores do Estado do Rio de Janeiro (HFSERJ), Rio de Janeiro, Brazil.
Abstract:
Melkersson-Rosenthal syndrome (MRS) is a rare condition without any known etiology. It is characterized by the triad facial paralysis, facial swelling, and the development of folds and furrows at the tongue (fissured tongue). This study aims to report a case of a 59-year-old patient complaining about asymmetric eyelid swelling that had started two years before, associated with pain and redness on her right eye, without repercussions on her visual acuity. The patient underwent a skin biopsy of the right eye's lower eyelid, which was compatible with the monosymptomatic form of MRS. Consequently, five injections of triamcinolone were performed for the period of one year, with gradual and satisfactory improvement. One year after the end of the treatment, the patient returned with recurrence of the swelling, and therapy with triamcinolone associated with oral steroids was started. However, due to the lack of improvement, Tacrolimus ointment 0.03% was initiated. The patient evolved with an important and significant reduction of the eyelid edema, still being followed at the Hospital Federal dos Servidores do Estado do Rio de Janeiro.
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