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Patient. Lingua plicata (or fissured tongue). One of the triad of the symptoms of Melkersson–Rosenthal syndrome that consist of recurrent lip and/or face swelling, fissured tongue, and intermittent facial palsy
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Purpose of review:
We 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 findings:
The Melkersson-Rosenthal syndrome co...
Similar publications
A 15-year-old male, whose family history was unremarkable, was suffering with persistent upper facial edema and diplopia. The patient had peripheral facial palsy (lower motor neuron facial palsy) 3 months previously and received treatment with prednisolone, but there was no improvement. The patient's general condition was good. On neurological exam...
Melkersson-Rosenthal syndrome (MRS) was first described and named after E. Melkersson in 1928 and C. Rosenthal in 1931. MRS is a rare cause of recurrent facial nerve palsy and can manifest as facial paralysis, orofacial edema, and/or tongue fissuring. Presenting with the complete triad, it was scarcely reported in literature. However, the patient r...
Melkersson-Rosenthal syndrome (MRS) is a rare neurological condition that includes a triad of symptoms including recurring facial paralysis, orofacial swelling, and fissured tongue. The diagnosis and treatment of this syndrome is difficult since the classic triad is rarely possible to see in its complete form. The etiology of MRS is unknown, but it...
Context • The Melkersson-Rosenthal syndrome (MRS) is a rare condition characterized by a triad of symptoms: (1) recurrent and/or persistent orofacial swelling, (2) recurrent facial paralysis, and (3) a fissured tongue. Although various contributing factors have been suggested, the etiology and mechanisms of the syndrome have not been fully elucidat...
Melkersson–Rosenthal syndrome (MRS) in children is a rare condition, clinically characterised by a triad of synchronous or metachronous symptoms: recurrent peripheral facial palsy, relapsing orofacial oedema, and a fissured tongue; the most recent review published on the topic has reported 30 published patients. The aetiology of this disease is sti...
Citations
... to the anti-SS-A, anti-RNP autoantibody, 2 and elevated serum levels of the angiotensin converting enzyme. 3 Orofacial swelling, also defined as orofacial granulomatosis (OFG), is a condition that can interest the entire face of the patient, and it is characterized by edema of the soft tissues, histologically defined by the "presence of non-caseating epithelioid cell granulomas undistinguishable to sarcoidosis and Crohn disease." 4 If the swelling pertains to the lips-in the most of the cases only the upper-we can refer to OFG as granulomatous cheilitis (GC), and it represents the most common symptom of MRS. ...
... Another hypothesis that longs to be more analyzed is that MRS can be seen as an early manifestation of mixed connective tissue diseases (MCTD), such as systemic lupus erythematosus or sclerodermia. 2 According to this theory, MRS can be seen as the primary manifestation of a wider disease, with a bigger involvement of the neurological functions and of the whole body. 4 This theory is also in need of a major indepth analysis. ...
Key Clinical Message
Melkersson–Rosenthal syndrome (MRS) remains an enigmatic pathology due to an unknown etiology. Our report, of a 69‐year‐old man with MRS misdiagnosed for about 40 years, underlines the diagnostic difficulty of this condition. A holistic view of the patient, with a correct medical history investigation, are often decisive in the diagnosis of MRS.
Abstract
Melkersson–Rosenthal syndrome (MRS) is a rare disorder with a still unknown etiology. It is defined by three main symptoms, which are orofacial granulomatosis (OFG), facial palsy, and fissured tongue. It generally presents in young people, during the second or third decade, and its incidence in the entire population is about 1%. We focus our attention on a 69‐year‐old man who came to us with an important swelling of the upper lip. His anamnesis revealed that he suffered from a facial palsy four times in his life and at the physical examination we attested the presence of scrotal tongue. We suspected a misdiagnosed MRS and we searched the web in order to give him a diagnosis and a therapy. We found that OFG is the most common symptom of MRS and that it can show as a non complete form, where the three main symptoms cannot occur simultaneously. We also prescribed a therapy based on the use of topic steroids and antiviral, according to literature. After the positive response to the therapy and according to data found in the most recent literature, we can assume that our patient suffers from a misdiagnosed MRS for about 40 years.
... The prevalence of PN is mixed connective tissue disease (MCTD) varies between 10 and 17% (117), including a relatively high percentage of trigeminal and bilateral facial nerve palsy Frontiers in Medicine 13 frontiersin.org (118). Vasculitic and compressive neuropathies such as CTS can also be observed (119), presenting the typical HRUS features described above. ...
Peripheral neuropathies are surprisingly common and can be associated with a number of conditions, including rheumatological diseases. Whether the co-existence of peripheral neuropathies with rheumatological disorders is coincidental or related to a common pathogenic mechanism, these disabling conditions can affect the outcome of rheumatological patients and should be targeted with specific treatment. The clinical presentation of peripheral neuropathy can be multifaceted and difficult to recognize in polysymptomatic patients. However, physicians adopting state-of-art diagnostic strategies, including nerve imaging, may improve the detection rate and management of neuropathies. In particular, a diagnostic approach relying exclusively on clinical history and nerve conduction studies may not be sufficient to disclose the etiology of the nerve damage and its anatomical location and thus requires integration with morphological studies. High-Resolution Ultrasound (HRUS) is increasingly adopted to support the diagnosis and follow-up of both joint disorders in rheumatology and peripheral neuropathies of different etiologies. In this review, the different types of nerve disorders associated with the most common syndromes of rheumatological interest are discussed, focusing on the distinctive sonographic features.
... Previous studies suggested that the prevalence of PN-MCTD is approximately 10% to 17% [59], among which trigeminal neuralgia is often associated with MCTD [60]. Bilateral facial nerve palsy with facial swelling can also present in MCTD, and is known as Melkersson-Rosenthal syndrome [61]. Vasculitic neuropathy may be concomitant and manifest as distal symmetric neuropathy [62]. ...
Purpose of review:
To discuss and summarize recent findings in peripheral neuropathy (PN) related to connective tissue diseases (CTD) including its prevalence, clinical manifestations, pathogenesis, diagnosis and treatment.
Recent findings:
Although PN is a common complication in CTD and has been well studied, recent research has shown that PN is more diverse and frequent in different subtypes of CTD than was expected. The incidence of PN in Sjögren's syndrome and rheumatoid arthritis (RA) varies according to different disease subtypes, and the pathogenesis of neuropathic pain in different subtypes of eosinophilic granulomatosis with polyangiitis (EGPA) may also differ. Neurogenic inflammation, autoantibody-mediated changes, ischemia of the vascular wall and metabolic mechanisms have been shown to contribute to the pathogenesis of PN in CTD. Moreover, allergic inflammation has been recently identified as a possible new mechanism producing peripheral neuropathic pain associated with MPO-ANCA negative EGPA patients. Glucocorticoids are routinely used to relieve pain caused by PN. However, these steroids may cause hyperalgesia, exacerbate neuropathic pain, and activate the early phase of pain induction and produce hyperalgesia. Recently, neuroactive steroids, such as progesterone, tetrahydroprogesterone and testosterone, have been shown to exert protective effects for several PN symptoms, and in particular neuropathic pain. Neuroactive steroids will be an interesting topic for future research into PN in CTD.
Summary:
It is essential for the diagnosis and treatment of PN in CTD to be updated. Timely diagnosis, appropriate treatments, and multidisciplinary care are essential to minimize morbidity and decrease the risk of permanent neurologic deficits. Further studies are needed to guide diagnosis and treatment.
... It can be bilateral, partial or total, recurrent (in about 70% of patients) andpersistent. Involvement of other cranial nerves (trigeminal, hypoglossal, glossopharyngeal, olfactory, vestibular) has been reported, leading to dysphagia, dysarthria, altered vision, impaired eye motility (19).If the fifth cranial nerveis affected, there can be hyperesthesia and migraine, or even damage to chewing muscles("masticatory atonia") with limited mouth opening (20). In this case, the finding of normal serumcreatine kinase(CK) levels suggests that the damage is not attributable to myositis, but to muscular paralysis due to nerve inflammation instead (20). ...
Background
Orofacial granulomatosis (OFG) is characterized by granulomatous inflammation of the soft tissues of maxillofacial region. We explored OFG patients from 10different Italian Centers and summarized the most recent literature data.
Methods
a review ofpatients with OFG was carried out. An extensive online literature search was performed to identify studies reporting diagnosis and management of OFG.
Results
Thirty‐nine patients were recruited between January 2018 and February 2020. Most of them (97.4%) displayed involvement of the lipsand 28.2% suffered from Melkersson‐Rosenthal Syndrome. Two patients received diagnosis of CD and one patient of sarcoidosis, suggesting secondary OFG.Oral aphthosis and cervical lymphadenopathy were also described.The mean diagnostic delay was 3.4 years.Histological evaluation was performed in 34/39 patients (87.2%); non‐caseating granulomas were found in 73.5% of them.Neurological symptoms (28.2%), gastrointestinal symptoms in absence of overt inflammatory bowel disease (IBD) (20.5%) and atopy (35.9%) were also identified. Therapeutic approaches varied among the centers. Steroids (51.3%) were used with good or partial results.Anti‐TNF‐α and anti‐IgE monoclonal antibodieswere used in 6(15.4%) and 1(2.6%) patients, respectively, with variable results. Surgery was the choice for 2 patients with good response.
Conclusions
OFG is a rare and neglected disease showing multiple clinical phenotypes. While early diagnosis is crucial,managementis difficult and highly dependent on the expertise of clinicians due to the lack of international guidelines. There is a need to establishregistry databases and address challenges of long‐term management.
... In addition deficiency of complement C1-INH leading to vasomotor disturbances might also contribute to swelling of the facial nerve [54]. One recent report stated, that Mixed Connective Tissue Disease (MCTD), a multisystemic disorder with overlapping features of systemic lupus erythematodes, scleroderma, and polymyositis, represents a possible etiology of MRS and emphasized the importance of the neurological manifestation of MRS as part of MCTD [55]. Differential diagnosis of MRS includes allergy, atopy, angioedema, infections, systemic lupus erythematosus, dermatomyositis, tuberculosis, benign lymphogranulomatosis and rosacea. ...
Background and objective:
Melkersson Rosenthal syndrome (MRS) is a rare disorder of unknown etiology and comprises the triad: orofacial edema, recurrent facial paralysis and lingua plicata. In the current literature confusing heterogeneity exists, mixing together the historically grown terms cheilitis granulomatosa or granulomatous cheilitis, Melkersson Rosenthal syndrome and the umbrella term orofacial granulomatosis (OFG).
Methods:
We provide a systematic review comprising all three disease entities of orofacial granulomatosis using the computerized database "Pubmed Medline" entering the key words "orofacial granulomatosis" (141 references), "Melkersson-Rosenthal syndrome" (207 references), "granulomatous cheilitis" or "cheilitis granulomatosa" (102 references) back to 1956. Full text journals and case studies were included, and data synthesis was performed individually.
Results:
Etiology remains unclear for all three disease entities. Etiological relatedness to chronic inflammatory bowel disease is under discussion and effectiveness was found for different treatments, e.g. local triamcinolone injections, antibiotics, surgical interventions, TNF alpha blockers or exclusive enteral nutrition. No randomized controlled trial concerning the therapy of orofacial granulomatosis was found. As a consequence, therapeutic conclusions are drawn mainly from small case series, thus limiting the evidence of therapeutic interventions.
Conclusions:
OFG with the sub-entities MRS and cheilitis granulomatosa is an etiological obscure disease process with various possible therapeutic interventions potentially alleviating the disease course but to broaden treatment knowledge further study in randomized controlled trials are needed.
... Although allergic reactions, hypersensitivity, autoimmunity, genetic predisposition, and microbial reactions have been hypothesized to contribute to the pathogenesis of MRS [3], the actual cause has not yet been identified. The interval from presentation to diagnosis may be as great as three decades [4]. We present the case of a 22-year-old man with MRS who was misdiagnosed 2 years prior to the current presentation as having chronic allergic angioedema, which had partially responded to systemic corticosteroids. ...
... 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. ...
Mixed connective tissue disorder (MCTD) is a multisystem disease with overlapping features of other autoimmune diseases, such as systemic lupus erythematosus (SLE), myositis, rheumatoid arthritis, and scleroderma. MCTD presents with a distinctive antibody in serum known as U1-ribonucleoprotein (RNP). MCTD is quite rare as compared to other connective tissue disorders like SLE, systemic sclerosis, dermatomyositis, and polymyositis. We describe a case of MCTD in a young Asian female of 30 year old. This case highlights rare co-existence of polyneuropathy and autoamputation in MCTD disorder. Trigeminal neuralgia and cranial nerve involvements have been previously reported in MCTD but the findings of polyneuropathy and autoamputation are extremely rare.
Background and purpose
Melkersson‐Rosenthal syndrome (MRS) is a rare neuro‐mucocutaneous disease. In addition to the traditional clinical triad, there is also a diversity of clinical signs, and it may be related to other systemic diseases.
Methods
In the present study, we report a case of MRS with endocrine disorders that exhibits extraordinary therapeutic efficiency by using hydroxychloroquine (HCQ), explore whether there is an internal connection between MRS and endocrine disorders, and discuss the mechanism of the therapeutic efficiency of using HCQ. The hypothesis proposed for the first time is that MRS may essentially be a systemic granulomatous disease.
Results
The physical examination revealed orofacial swelling and fissured tongue. The histopathologic examination showed epithelioid granulomas. Combined with the other examination, this case was diagnosed as incomplete MRS. HCQ and local drugs were introduced. The patient achieved clinical recovery and psychological cure by the 18‐week follow‐up, and the 1‐year follow‐up found no reactivation of MRS. Moreover, the levels of cortisol and adrenocorticotropic were within normal ranges.
Conclusions
After the drug therapy was targeted at granuloma, not only did all of the symptoms related to MRS disappear, but the endocrine system also returned to normal. It is speculated that the endocrine disorder in this patient may be related to MRS. We further propose the first‐time hypothesis that MRS may essentially be a systemic granulomatous disease. It provides a new medication method with high‐level efficiency.
Introducción: La parálisis facial tiene una incidencia anual de 13-52 casos por cada 100.000 habitantes. 7% de los episodios corresponden a Parálisis Facial Recurrente (PFR). Estudios electrofisiológicos han evidenciado mayor degeneración del nervio facial tras recurrencias repetitivas, y el pronóstico parece ser peor comparado con un único episodio.Objetivo: Revisar sistemáticamente la literatura existente y presentar un algoritmo clínico actualizado sobre el diagnóstico y manejo de la PFR, basado en una compilación y síntesis metodológica de la literatura disponible.Diseño: Revisión sistemática de la literatura. Materiales y métodos: Se realizó una búsqueda en las bases de datos MEDLINE/Pubmed, Cochrane, Scopus, Scielo y LILACS, con los términos Mesh “Nervio Facial, Parálisis Facial Recurrente, TécnicasResultados: Se encontraron 84 artículos. Después de una lectura cuidadosa y filtro basado en los criterios, 63 artículos fueron seleccionados.Discusión: El abordaje diagnóstico de la PFR sin excepción debe incluir una detallada historia clínica, examen físico completo, tomografía de hueso temporal de alta resolución y resonancia magnética del nervio facial. Los estudios adicionales deben basarse en una sospecha diagnóstica y su uso rutinario no está recomendado.Conclusiones: El manejo oportuno de la inflamación y el edema, independientemente de la etiología de la PFR, tendrá un impacto positivo en el pronóstico funcional del nervio.
