Radiofrequency therapy as an effective treatment for granulomatous cheilitis: A CARE case report.

INTRODUCTION: 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. CASE SUMMARY: 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. DISCUSSION: 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.

Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?

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.

Granulomatous Cheilitis Preceding Gastrointestinal Manifestations of Crohn's Disease.

ABSTRACT: 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.

Granulomatous gingival manifestation in Melkersson Rosenthal syndrome: a case report.

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.

Granulomatous cheilitis: differential diagnosis in patients with macrocheilia.

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.

Granulomatous cheilitis of Miescher: a rare entity.

BACKGROUND: 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). CASE PRESENTATION: 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. CONCLUSION: 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.

Surgical Treatment Outcome for Familial Melkersson-Rosenthal Syndrome.

BACKGROUND Recurrent facial nerve palsy, orofacial edema, and fissured tongue are a triad of manifestations that characterize a rare disorder named Melkersson-Rosenthal syndrome. It is important to consider this syndrome when diagnosing atypical, unilateral, or bilateral facial palsies with characteristics of familial prevalence. There is no established outcome prediction for this disease and the syndrome does not have a specific duration or prospective timeline. Recurrent facial paralysis can require surgery and a multidisciplinary approach with regular follow-up. CASE REPORT We describe a 38-year-old woman presenting with a third episode of facial paralysis and discuss her pedigree chart and the treatment course chosen. After conservative treatment with oral corticosteroids, antiviral therapy, and motor physical therapy with no significant improvements, the patient underwent facial nerve decompression surgery with outstanding results. Eight months after surgery and intense postoperative physical therapy, the patient improved from grade VI to grade II palsy on the House-Brackmann Scale. The patient's older brother also presented a fissured tongue and had a history of 2 episodes of facial paralysis. The patient's son, mother, and sister also presented tongue fissuring but did not have any other clinical signs of the syndrome. CONCLUSIONS Despite being rare, Melkersson-Rosenthal syndrome is associated with a family inheritance and its diagnosis has prognostic implications. Therefore, it is of the utmost importance to have suspicion of this disorder in order to improve quality of care and target the treatment accordingly. Surgical treatment in these cases seems to be an excellent choice to treat current facial paralysis and prevent further episodes.

A case of complete Melkersson-Rosenthal syndrome: Possibly associated with Mycolicibacterium fortuitum from odontogenic origin.

Melkersson-Rosenthal syndrome (MRS) is a neuromucocutaneous disease of unknown pathogenesis. With this communication, we describe a case of a 26-year-old woman with complete MRS in whom Mycolicibacterium fortuitum was detected in the swelling lip biopsy by next- generation sequencing. The patient's symptoms were slightly improved after intralesional corticosteroid injection combined with broad-spectrum antibiotics, while they were significantly improved after further treatment of dental caries and removal of the residual root. This case provides insight into the possible microbial infection pathogenesis of MRS, and M. fortuitum was speculated to be related to granulomatous and neuronal disorders, most probably from odontogenic origin.