Orphan diseases in allergology - Melkersson-Rosenthal Syndrome

Abstract

Background. Melkersson-Rosenthal Syndrome (MRS) is a rare neurological disorder characterized by hypertrophy and fissures of the tongue, recurrent long-lasting facial paralysis and chronic orofacial edema. Edema is the most common initial finding and can mimic both allergic and nonallergic angioedema. Objective(s). To present the clinical features, diagnostic and therapeutic challenges and to emphasize the importance of multidisciplinary collaboration in the management of Melkersson-Rosenthal syndrome. Materials and methods. The clinico-paraclinical data of a case of chronic angioedema of the face, resistant to treatment with systemic corticosteroids and antihistamines, were analyzed. At the same time, literature data were also studied for the differential diagnosis and treatment options, including surgery options in Melkersson-Rosenthal syndrome. Results. M, 61 years old, mentions the fissured appearance of the tongue since childhood. From the age of 25 years, he noticed episodes of edema of the nasal pyramid and facial neuritis. After a decade, relapsing edema of the upper lip occurs, for which he is treated with systemic CS and antihistamines. In the absence of positive effect, he is referred to the neurologist, who highlights left facial palsy. Hereditary angioedema and sarcoidosis were excluded by normal values of angiotensin-converting enzyme, C1-esterase inhibitor, complement fractions, and unchanged pulmonary radiologic examination. The Results. s supported the suspicion of MRS. Conclusion(s). MRS is a rare neurologic disorder (0.2-80/100000) of unknown cause. The diagnosis is clinical with a multidisciplinary approach. In the absence of drug treatment, surgical treatment is applied for facial nerve decompression or cosmetic correction of persistent lip edema.