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1.
Eur Ann Otorhinolaryngol Head Neck Dis ; 141(1): 33-35, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37598063

RESUMO

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.


Assuntos
Queilite , Síndrome de Melkersson-Rosenthal , Terapia por Radiofrequência , Humanos , Idoso , Síndrome de Melkersson-Rosenthal/diagnóstico , Síndrome de Melkersson-Rosenthal/patologia , Síndrome de Melkersson-Rosenthal/cirurgia , Qualidade de Vida , Recidiva Local de Neoplasia , Queilite/etiologia , Queilite/cirurgia
2.
Genes (Basel) ; 14(7)2023 07 20.
Artigo em Inglês | MEDLINE | ID: mdl-37510386

RESUMO

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.


Assuntos
Paralisia Facial , Síndrome de Melkersson-Rosenthal , Transtornos de Enxaqueca , Humanos , Síndrome de Melkersson-Rosenthal/diagnóstico , Síndrome de Melkersson-Rosenthal/genética , Síndrome de Melkersson-Rosenthal/complicações , Paralisia Facial/complicações , Transtornos de Enxaqueca/genética , Transtornos de Enxaqueca/complicações , Mutação de Sentido Incorreto , Fenótipo , Canal de Sódio Disparado por Voltagem NAV1.1/genética
3.
Am J Dermatopathol ; 45(7): 482-486, 2023 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-37338066

RESUMO

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.


Assuntos
Queilite , Doença de Crohn , Síndrome de Melkersson-Rosenthal , Masculino , Humanos , Adulto Jovem , Adulto , Síndrome de Melkersson-Rosenthal/patologia , Doença de Crohn/complicações , Doença de Crohn/tratamento farmacológico , Lábio/patologia , Glucocorticoides , Biópsia , Queilite/patologia
4.
Pan Afr Med J ; 44: 72, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37159626

RESUMO

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.


Assuntos
Paralisia de Bell , Hiperplasia Gengival , Síndrome de Melkersson-Rosenthal , Feminino , Humanos , Adulto , Síndrome de Melkersson-Rosenthal/diagnóstico , Gengiva , Face
5.
BMJ Case Rep ; 16(5)2023 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-37221004

RESUMO

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.


Assuntos
Síndrome de Melkersson-Rosenthal , Segunda Neoplasia Primária , Masculino , Humanos , Lábio , Diagnóstico Diferencial , Pacientes , Antibacterianos
6.
BMC Womens Health ; 23(1): 118, 2023 03 21.
Artigo em Inglês | MEDLINE | ID: mdl-36944970

RESUMO

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.


Assuntos
Síndrome de Melkersson-Rosenthal , Feminino , Humanos , Adulto , Síndrome de Melkersson-Rosenthal/diagnóstico , Síndrome de Melkersson-Rosenthal/tratamento farmacológico , Síndrome de Melkersson-Rosenthal/patologia , Diagnóstico Diferencial , Recidiva , Biópsia , Remissão Espontânea
8.
J Dermatol ; 50(7): 935-937, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36815397

RESUMO

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.


Assuntos
Cárie Dentária , Síndrome de Melkersson-Rosenthal , Feminino , Humanos , Adulto , Síndrome de Melkersson-Rosenthal/diagnóstico , Síndrome de Melkersson-Rosenthal/tratamento farmacológico , Síndrome de Melkersson-Rosenthal/complicações , Cárie Dentária/complicações , Cárie Dentária/patologia , Lábio/patologia , Antibacterianos/uso terapêutico , Edema/patologia
9.
Am J Case Rep ; 24: e938670, 2023 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-36755481

RESUMO

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.


Assuntos
Paralisia de Bell , Paralisia Facial , Síndrome de Melkersson-Rosenthal , Língua Fissurada , Masculino , Feminino , Humanos , Adulto , Síndrome de Melkersson-Rosenthal/diagnóstico , Síndrome de Melkersson-Rosenthal/cirurgia , Síndrome de Melkersson-Rosenthal/complicações , Paralisia Facial/etiologia , Língua Fissurada/complicações , Estudos Prospectivos , Resultado do Tratamento
19.
Acta Dermatovenerol Alp Pannonica Adriat ; 31(Suppl): S36-S38, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35339143

RESUMO

Granulomatous cheilitis or Miescher's cheilitis is a rare granulomatous disorder defined by recurrent lip swelling or edema of other facial soft tissues. Histopathology shows non-caseous granulomas and multinucleated giant cells. The exact etiology is unknown, although genetic background, immunological irregularities, and systemic or infectious diseases contribute to the onset of disease. There are no treatment guidelines. The usual treatment options include systemic or intralesional corticosteroids, a spectrum of antibiotics, and immunosuppressants. A 63-year-old patient presenting with lip swelling and simultaneous swelling of other facial soft tissues was diagnosed with granulomatous cheilitis. The symptoms occurred 3 weeks after SARS-CoV-2 infection. Initial treatment with systemic corticosteroids and antihistamines was inadequate. Here we report successful treatment with a combination of doxycycline and metronidazole.


Assuntos
Tratamento Farmacológico da COVID-19 , Síndrome de Melkersson-Rosenthal , Antibacterianos/uso terapêutico , Edema , Humanos , Síndrome de Melkersson-Rosenthal/diagnóstico , Síndrome de Melkersson-Rosenthal/tratamento farmacológico , Síndrome de Melkersson-Rosenthal/etiologia , Pessoa de Meia-Idade , SARS-CoV-2
20.
Int J Dermatol ; 61(6): 755-759, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35174873

RESUMO

BACKGROUND: Granulomatous cheilitis (GC) is a poorly understood disorder of the labial mucosa, which is a subtype under an umbrella term "orofacial granulomatosis." Several treatment modalities have been tried in the management of GC with suboptimal to optimal results. OBJECTIVE: The objective of this article is to discuss various treatment modalities, whether medical or surgical, that have been tried for the management of GC with success. METHODS: A comprehensive literature search was performed to screen articles related to the successful treatment of GC. Articles published in journals indexed in PubMed were searched along with those in Google Scholar. There was no availability of systematic review or meta-analysis on treatment of GC in the literature search. Recent data has been collected and consolidated from various case reports and case series to provide a concise overview of various treatments applied in GC. RESULTS: Various treatment modalities have been used in GC including glucocorticoids, antibiotics, immunomodulatory, and biological agents, surgical debulking, and laser therapy. No treatment modality has provided a predictable success. Intralesional corticosteroid therapy has been used more frequently either alone or in combination with other modalities.


Assuntos
Queilite , Granulomatose Orofacial , Síndrome de Melkersson-Rosenthal , Antibacterianos/uso terapêutico , Queilite/terapia , Glucocorticoides/uso terapêutico , Humanos , Síndrome de Melkersson-Rosenthal/diagnóstico , Síndrome de Melkersson-Rosenthal/tratamento farmacológico , Mucosa Bucal
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