BACKGROUND: Melkersson-Rosenthal syndrome (MRS) is a rare neuro-mucocutaneous disorder characterized by recurrent edema, facial palsies, and nerve dysfunctions often associated with the plicata tongue. Although the etiology of MRS is not well understood, there is growing evidence suggesting an autoimmune involvement.
METHODS: This paper presents a case report of a 25-year-old male with MRS as the initial symptom, followed by temporomandibular joint osteoarthritis (TMJ-OA). A comprehensive diagnosis and multidisciplinary treatment approach including surgery, local injections, and oral medication were implemented, resulting in a favorable prognosis.
CONCLUSIONS: These findings support the hypothesis that MRS is a systemic granulomatous disease caused by autoimmunity, which may also influence the occurrence and development of TMJ-OA through immune-related mechanisms. This study emphasizes the significance of systemic immune regulation in the treatment of patients with MRS and TMJ-OA comorbid conditions.

Peripheral facial palsy rarely occurs as part of Melkersson-Rosenthal syndrome (MRS), which is characterized by the classical triad of tongue cheilitis, recurrent episodes of orofacial swelling, and palsy. MRS is a disorder with variable expressivity and clinical as well as genetic heterogeneity; however, the causative gene remains to be identified. Migraine is a common neurological disorder, presenting with or without aura, which may be associated with neurological symptoms. The classical example of monogenic migraine is familial hemiplegic migraine (FHM), which has phenotypic variability in carriers of variants in the same gene or even carriers of the same variant. We present a family in which two sisters displayed recurrent migraines, one of which presented recurrent facial palsy and had clinical diagnosis of MRS. We performed WES and Sanger sequencing for segregation analysis in the available family members. We identified a c.3521C>G missense heterozygous variant in SCN1A carried only by the affected sister. Variants in the SCN1A gene can cause a spectrum of early-onset epileptic encephalopathies, in addition to FHM; therefore, our finding reasonably explains the proband phenotype, in which the main symptom was recurrent facial palsy. This report also adds knowledge to the clinical spectrum of SCN1A alterations and suggests a potential overlap between MRS and FHM.

Macrocheilia, or lip enlargement, has a varied aetiology, but granulomatous conditions, both infective and non-infective, comprise a significant proportion of patients. Diagnosis starts with clinical investigations while histological examination is required for a definitive diagnosis. In the case presented, a young man presented with painless swelling of upper lip over the past 3 months. Given the clinical history and biopsy results, the diagnosis of granulomatous cheilitis was made which is considered a rare manifestation of metastatic Crohn\'s disease. Treatment options remain debated, though in the situation presented a conservative approach was adopted, consisting of antibiotics and corticosteroid therapy, which resulted in significant remission in lip swelling without recurrence after a 3-month follow-up.

Melkersson-Rosenthal syndrome is a rare condition of unknown etiology. It is characterized by a classical triad of symptoms: relapsing facial and lip swelling, facial palsy and a fissured tongue. We report the case of a 29-year-old female patient who presented with the above-mentioned symptoms of Melkersson-Rosenthal syndrome. However, clinical examination revealed an exceptional manifestation, which is the gingival hyperplasia. The symptoms were partially managed with systemic steroids and surgical resection of gingival hyperplasia. The most significant finding to emerge from our case is that gingival enlargement can be identified as a rare clinical feature of the MRS disease, which is confirmed difficult to be managed.

Melkersson-Rosenthal syndrome (MRS) is a rare neuro-mucocutaneous condition that presents with orofacial swelling, facial paralysis, and a fissured tongue. These classic triad of symptoms, however, very rarely present simultaneously. The symptoms are often seen alone or in pairs and appear at any stage in life. Although the etiology of this condition is unknown, various contributing factors have been suggested including infections, immune deficiencies, stress, and genetic predispositions. We present a case of a 23-year-old female patient who has a longstanding history of MRS, anxiety, and depression, and who attempted to overdose on prescription medications due to suicidal ideations.

Granulomatous cheilitis (GC) is a rare entity of unknown etiology. It is a chronic inflammatory disorder with a predilection for young females. It is characterized by asymptomatic unrelenting swelling of lips. It is a monosymptomatic form or an incomplete variant of Melkersson-Rosenthal syndrome (a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissuring of the tongue).
We herewith report a case of a 27-year-old female, presenting with persistent upper lip swelling, for 3 months. Biopsy from the lesion revealed features of granulomatous cheilitis.
GC should be considered in the differential diagnosis of unrelenting swelling in the lip. Spontaneous remission is rare, and recurrences are common. Corticosteroids used for treatment provide temporary improvement.

Orofacial granulomatosis is a condition that manifests clinically as painless labial enlargement, perioral and mucosal edema, oral ulcers, and gingivitis. It is characterized by non-necrotizing granulomatous inflammation of the oral and maxillofacial region. When the swelling only affects the lips, the pathology is called Miescher\'s granulomatous cheilitis; however, when it also causes facial paresis and lingua plicata, it is known as Melkersson-Rosenthal syndrome. We report a case that was successfully treated with a combination of a local (intralesional) steroid, a systemic antibiotic, and a systemic steroid. After 6 months of therapy, we observed improvement in gingival hyperplasia and buccal mucosa and lip edema.

Sarcoidosis is a well-characterized inflammatory disease that affects multiple organ systems and can have long-term devastating outcomes if not identified and treated appropriately. The disease is most prevalent among young to middle-aged African American women. It most commonly presents with pulmonary involvement, though there are reported cases of sarcoidosis without pulmonary involvement. Pulmonary presentations can be biopsied, diagnosed, and treated with primary immunomodulation with great treatment success. Here, we present an unusual presentation of sarcoidosis as granulomatosis mucositis in the salivary gland and concurrent rare complication of sarcoid myositis in the rectus femoris in a patient with no evidence of pulmonary involvement throughout the duration of their clinical course. Further, we discuss differential diagnoses related to this patient\'s presentation as well as the efficacy of treatment modalities available in the management of this disease.

Melkersson-Rosenthal syndrome (MRS) is an uncommon neuro-mucocutaneous disease, clinically characterized by a triad of recurrent facial palsy, orofacial swelling, and fissured tongue. This report presents the case of a 38-year-old female diagnosed with MRS based on its three clinical features. A corticosteroid (1 mg/kg/day of oral prednisolone) was prescribed for a week, and then tapered off over two weeks by gradually lowering the dose. Regular annual long-term follow-ups were requested to monitor the disease activity.

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