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.

暂无摘要。

Gesichtsödeme sind ein relativ häufiges Symptom bei Patienten allergologischer und dermatologischer Kliniken. Die Differentialdiagnose ist breit gefächert und die endgültige Diagnose kann manchmal eine Herausforderung für den Kliniker sein. Das faziale Angioödem selbst umfasst verschiedene Ätiopathologien (histaminerg, bradykinininduziert und weitere), die von anderen Ursachen des Gesichtsödems differenziert werden sollten, etwa allergischer Kontaktdermatitis, granulomatösen Erkrankungen, inflammatorischen Ursachen, Infektionen, Neoplasmen oder paraneoplastischen Syndromen, Autoimmunerkrankungen und anderen Entitäten, die hier als „Sonstige“ bezeichnet werden. Um die richtigen Untersuchungen anzuordnen und eine gezielte Therapie zu verordnen, ist ein angemessener diagnostischer Ansatz ausschlaggebend. Diese Übersicht konzentriert sich auf Entitäten, die mit Gesichtsödem einhergehen, und fasst ihre klinischen Charakteristika zusammen.

暂无摘要。

BACKGROUND: Granulomatous cheilitis is a rare disorder characterized by recurrent, idiopathic, and painless lip swelling. The diagnosis is proven by histopathological examination. The unknown aetiology and poorly understood underlying mechanism contribute to the difficulty in establishing an effective treatment. This case study proposes the effectiveness of radiofrequency therapy in the management of refractory granulomatous cheilitis.
METHODS: A 68-year-old patient presented with hypertrophy and swelling of the lower lip, and a biopsy revealed actinic cheilitis. The patient underwent lip shaving and an advancement mucosal flap, and definitive histologic examination confirmed the diagnosis of granulomatous cheilitis. No other signs of orofacial granulomatosis were observed, and the complementary aetiological study was negative for systemic disease. The lip swelling reappeared and persisted, which interfered with the quality of life. Hence, radiofrequency therapy was performed in the submucosal and subdermal layers of the lip, resulting in significant aesthetic and functional improvement and no further relapses after five years.
CONCLUSIONS: The management of granulomatous cheilitis is challenging. The current mainstay treatment is corticotherapy or reduction cheiloplasty in severe cases. Radiofrequency has potential as a treatment option in debilitating macrocheilia, presenting worthy long-lasting functional and aesthetical results, with minimal morbidity.

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.

UNASSIGNED: We describe a 20-year-old male with no significant medical history who presented with a 1-month history of painless upper and lower lip edema initially treated with antibiotics for suspected cellulitis before arriving to the clinic. After a failed response to that treatment, a lip biopsy was eventually performed and consistent with a diagnosis of granulomatous cheilitis. In addition to oral and topical corticosteroids and tacrolimus, the patient adopted the cinnamon- and benzoate-free diet with some improvement of his lip swelling. Persistent mild tachycardia led to a cardiology referral for further evaluation and sarcoidosis workup. A gastroenterology consult was placed to correlate his presentation with Crohn\'s disease. The cardiology workup was noncontributory, and the patient was ultimately diagnosed with Crohn\'s disease after evaluation with laboratory studies and colonoscopy. This case highlights the need to evaluate for Crohn\'s disease in patients who present with granulomatous cheilitis, even in the absence of gastrointestinal symptoms, and the potential benefit of incorporating a cinnamon- and benzoate-free diet in treatment.

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.