Melkersson-Rosenthal syndrome – a therapeutically challenging disease

Melkersson-Rosenthal syndrome (MRS) is a rare disease characterised by recurrent orofacial swelling, recurrent facial paralysis, and a fissured tongue. However, cases in which the patient experiences all the three symptoms are relatively rare (in app. 8–25% of all cases). The clinical picture is dominated by incomplete and monosymptomatic forms [1–7]. The latest reports on MRS state that the disease annually affects from 0.2 to 80 per 100,000 people. However, the number of MRS incidences is believed to be higher becuase the syndrome is often misdiagnosed or diagnosed incompletely [6].
Typically, the MRS symptoms appear in the second and third decades of life, but they may also manifest regardless of age, also the paediatric population [4, 6, 8]. Some literature data suggest that there is no difference in the prevalence of the disease in both sexes [1], others indicate that MRS is more frequent in women (suspected impact of female sex hormones as an aetiopathogenetic factor) [6].
The most common symptom of MRS is swelling of the soft facial tissues (mainly the upper and lower lip), which is found in 75–100% of patients. The swelling is painless, appears suddenly, and lasts for a few days. However, with time it tends to recur and becomes chronic [1, 4]. Oedema may also include mucous membranes of the cheeks and palate, gums, and the eyelids, forehead, and chin areas [4, 6]. Facial nerve palsy is found in 30–90% of patients. It is usually one-sided, recurrent, and can be partial or complete [1, 4]. It is associated with a worse prognosis as compared to Bell’s paralysis [9]. The third symptom, i.e. a fissured tongue, is observed in 30–77% of patients. Its presence in the healthy population is estimated to range from 5% to 10% [1, 4]. In MRS, the tongue is enlarged, swollen, and stinging, with a marked middle furrow and cracks on the dorsal surface. The symptom is sometimes accompanied by taste disorders, impaired salivary secretion, and speech difficulties. In addition to the classic triad of MRS symptoms, swollen lymph nodes, mainly in the chin and submandibular areas, can be observed [4]. Oedema of the genital and anal regions is rare but has also been reported in a few MRS patients [7, 10].
The diagnosis of MRS is made by physical findings and history. A biopsy may be necessary to confirm the diagnosis of this rare disease [2].
The aim of this case report was to present the patient suffering from ankylosing spondylitis in whom first...


View full text...