Melkersson–Rosenthal syndrome as an early manifestation of mixed connective tissue disease

Abstract

Purpose of reviewWe aim to illustrate the potential viability of MCTD as an underlying aetiology of Melkersson–Rosenthal syndrome. The case is probably the first description available in the literature of the Melkersson–Rosenthal as an early manifestation of mixed connective tissue disease.Recent findingsThe Melkersson–Rosenthal syndrome consists of a triad of recurrent lip and/or face swelling, fissured tongue, and intermittent facial palsy. Mixed connective tissue disease is a multisystemic disorder with overlapping features of systemic lupus erythematosus, scleroderma, and polymyositis, and is differentiated from them by a high titer of antibodies to ribonucleoprotein. The paper presents a case report of Melkersson–Rosenthal syndrome with an onset in childhood that derived from vasculitis that turned out to be an early manifestation of mixed connective tissue disease. We used MRI to evaluate patient’s brain structure and Immunoblot Ena Profil 1 test to test serum autoantibodies level. The patient has a typical for Melkersson–Rosenthal syndrome triad of symptoms: bilateral facial nerve palsy, lingua plicata and facial oedema. Both TC and MRI of the head show no changes as well as laboratory tests except Anti-SS-A (Anti-Ro) and Anti-RNP autoantibody serum level that was highly positive.SummaryNeurological involvement of the MCTD usually includes, according to the frequency of the occurrence, trigeminal neuralgia, headaches, sensorineural hearing, cerebral haemorrhage, transverse myelitis, cauda equina syndrome, retinal vasculitis, progressive multifocal encephalopathy, and demyelinating neuropathy. For clinical practice it is important to remember that Melkersson–Rosenthal syndrome can also be the neurological manifestation of MCTD, especially when accompanied by other systemic symptoms.

Orofacial granulomatosis: Clinical and therapeutic features in an Italian cohort and review of the literature

“…It can be bilateral, partial or total, recurrent (in about 70% of patients), and persistent. Involvement of other cranial nerves (trigeminal, hypoglossal, glossopharyngeal, olfactory, vestibular) has been reported, leading to dysphagia, dysarthria, altered vision, and impaired eye motility 19 . If the fifth cranial nerve is affected, there can be hyperesthesia and migraine, or even damage to chewing muscles (" masticatory atonia ") with limited mouth opening 20 .…”

Melkersson-Rosenthal syndrome with coeliac and allergic diseases

“…Autoimmunity has also been suggested as an aetiological factor, as there is an association of this syndrome with several autoimmune diseases such as Crohn’s disease and sarcoidosis 26 27. Melkersson-Rosenthal syndrome has also been reported in association with mixed connective tissue disease, discoid lupus erythematosus and Hashimoto’s thyroiditis 2 28–31…”

“…Melkersson-Rosenthal syndrome is a rare granulomatous disease that classically consists of a triad of recurrent orofacial oedema, facial nerve palsy and fissured tongue 1–3. It usually presents in a monosymptomatic or oligosymptomatic form and oedema of the lips is the most common monosymptomatic presentation, also termed Meischer’s syndrome or cheilitis granulomatosa.…”

Autoamputation and Polyneuropathy in Mixed Connective Tissue Disorder: A Case Report

“…Another case of subacute progressive encephalopathy was described in mixed connective tissue disease secondary to vasculitis of central nervous system [ 7 ]. Bilateral facial nerve palsy with facial swelling can also present with mixed connective tissue disorder known as Melkersson-Rosenthal syndrome [ 8 ]. Neuropathy is one of the common neurological manifestations of MCTD.…”