Chronic macrocheilia: a clinico-etiological series of 47 cases.

BACKGROUND: Macrocheilia is an inflammatory disfiguring condition responsible for the swelling of the lips. This multi-etiological entity represents a diagnostic and therapeutic challenge. Published data on macrocheilia is scarce, often limited to granulomatous cheilitis. METHODS: We conducted a retrospective study, including all patients presenting with chronic macrocheilia (CM) for nineteen years. CM was defined as a persistent enlargement of one or both lips for at least eight weeks. Both descriptive and analytical analyses were performed. RESULTS: Of the 47 patients identified, 20 (43%) had cutaneous leishmaniasis, 10 (21%) had Miescher's cheilitis, five (11%) had Melkersson-Rosenthal syndrome, five (11%) had sarcoidosis, one (2%) had lepromatous leprosy, one (2%) had systemic amyloidosis, and one (2%) had Crohn's disease. In four cases, the CM was unlabeled. Ulcerations were significantly associated with leishmaniasis (P < 0.05). Histological study showed a granulomatous infiltrate in 72% of cases. Medical treatment was adapted to the etiology of CM. Surgery was performed in two cases. Improvement of CM secondary to leishmaniasis was seen in all cases. In patients with idiopathic orofacial granulomatosis, partial improvement was noted in four cases and a total improvement in one case. Recurrences were noted in three cases after complete regression. CONCLUSIONS: Macrocheilia is a rare and disfiguring condition that requires an etiological investigation, considering that it can reveal a serious underlying systemic disease. We identified several factors that could help recognize the cause of CM, including age, history of intermittent swelling, the extent of lip enlargement, the existence of ulceration, and systemic symptoms.

Orofacial granulomatosis: Clinical and therapeutic features in an Italian cohort and review of the literature.

BACKGROUND: Orofacial granulomatosis (OFG) is characterized by granulomatous inflammation of the soft tissues of maxillofacial region. We explored OFG patients from 10 different Italian centers and summarized the most recent literature data. METHODS: A review of patients 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 lips, and 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 antibodies were 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, management is difficult and highly dependent on the expertise of clinicians due to the lack of international guidelines. There is a need to establish registry databases and address challenges of long-term management.

Allergic and Immunologic Perspectives of Inflammatory Bowel Disease.

Inflammatory bowel disease (IBD) is a chronic immune-mediated inflammatory condition primarily involving the gastrointestinal tract. It includes Crohn's disease (CD), ulcerative colitis (UC), and a less common phenotype-indeterminate colitis. It is thought to result from a complex interplay of environmental, microbial, and host factors including genetic factors, although the exact mechanism is not known. Dietary factors have been shown to play a role in the pathogenesis of IBD and can potentially alter the intestinal microbiota as well as disrupt the immune function in the gut. CD is characterized by transmural inflammation, sometimes associated with granulomatous lesions, and involves the entire gastrointestinal tract but often spares the rectum. UC is characterized by mucosal inflammation typically confined to the colon and rectum. Although IBD is mostly seen in western world, recent data suggests that the incidence and prevalence are increasing worldwide. Enteral nutrition has been shown to be effective in inducing remission in pediatric population with CD; however, there is mixed data in adult population. Nutritional deficiencies such as vitamin D and zinc deficiency are often noted in IBD patients. Several extraintestinal manifestations are noted in patients with IBD. Some of them parallel with the disease activity and others are independent of the disease course. Assessment of IBD disease activity clinically, radiologically, if indicated, biochemically and endoscopically is important to guide therapy in IBD. To ensure comprehensive care, it is important to assess associated conditions such as nutritional and psychological well-being, as well as age appropriate health maintenance status prior to starting treatment for IBD. Several biologic agents including anti-tumor necrosis factor alpha (anti-TNF-α) drugs, anti-integrins, and antibodies to the p40 subunit of IL12/23 are approved for induction and maintenance of remission of IBD. Steroids are also often used for induction. Anti-metabolites and thiopurines are also useful either as monotherapy or in combination regimens. Potential side effects of anti-TNF-α drugs such as serious infections, malignancy, worsening of heart failure, and infusion-related reactions should be considered prior to starting these drugs. Anti-TNF-α drugs with or without immunomodulators (azathioprine, 6-mercaptopurine, methotrexate) are often used for the induction and maintenance of remission. Treating to target of endoscopic and clinical remission provides the best long-term outcomes. Our knowledge and understanding of IBD has grown significantly. However, there are several unanswered questions on pathogenesis, disease behavior, and drivers of inflammation in various patient subgroups which require further research.

Melkersson-Rosenthal syndrome: a retrospective study of 44 patients.

CONCLUSION: When patients with recurrent facial paralysis are encountered, otolaryngologists should check for fissured tongue, and question those patients about orofacial edema, minor symptoms, and family history. Histologic evidence is not necessary for the diagnosis of Melkersson-Rosenthal syndrome (MRS), while coronary high-resolution CT (HRCT) reconstruction of temporal bone and food allergen detection may be beneficial. Prophylactic decompression of the facial nerve for patients with appropriate electrophysiological indication may prevent further facial palsy attacks. OBJECTIVES: The objective of this study was to analyze the clinical features of a group of patients with MRS with major complaints of facial palsy treated at the Department of Otorhinolaryngology, and to comment on MRS from the perspective of otolaryngologists. METHODS: A retrospective review of patient database for the last 6 years in the Department of Otorhinolaryngology in Beijing Shijitan Hospital was performed to find patients diagnosed with MRS. RESULTS: A total of 44 MRS patients were included in this study. The mean age at onset was 14.1 years. A total of 13 (29.5%) patients had family history, 17 (38.6%) revealed broadened fallopian canal on coronary HRCT reconstruction of temporal bone, and 20/23 (87.0%) patients showed positive results in food allergen detection. Thirty-one patients accepted subtotal facial nerve decompression and only one patient had facial palsy recurrence on the same side as the operation.

Recurrences of Bell's palsy.

INTRODUCTION: Bell's palsy in known as the most common cause of facial paralysis, determined by the acute onset of lower motor neuron weakness of the facial nerve with no detectable cause. With a lifetime risk of 1 in 60 and an annual incidence of 11-40/100,000 population, the condition resolves completely in around 71% of the untreated cases. Clinical trials performed for Bell's palsy have reported some recurrences, ipsilateral or contralateral to the side affected in the primary episode of facial palsy. Only few data are found in the literature. Melkersson-Rosenthal is a rare neuromucocutaneous syndrome characterized by recurrent facial paralysis, fissured tongue (lingua plicata), orofacial edema. PURPOSE: We attempted to analyze some clinical and epidemiologic aspects of recurrent idiopathic palsy, and to develop relevant correlations between the existing data in literature and those obtained in this study. METHODS & MATERIALS: This is a retrospective study carried out on a 10-years period for adults and a five-year period for children. RESULTS: A number of 185 patients aged between 4 and 70 years old were analyzed. 136 of them were adults and 49 were children. 22 of 185 patients with Bell's palsy (12%) had a recurrent partial or complete facial paralysis with one to six episodes of palsy. From this group of 22 cases, 5 patients were diagnosed with Melkersson-Rosenthal syndrome. The patients' age was between 4 and 70 years old, with a medium age of 27,6 years. In the group studied, fifteen patients, meaning 68%, were women and seven were men. The majority of patients in our group with more than two facial palsy episodes had at least one episode on the contralateral side. CONCLUSIONS: Our study found a significant incidence of recurrences of idiopathic facial palsy. Recurrent idiopathic facial palsy and Melkersson-Rosenthal syndrome is diagnosed more often in young females. Recurrence is more likely to occur in the first two years from the onset, which leads to the conclusion that we should have a follow up of patients diagnosed with Bell's palsy for at least two years from the onset, especially in children' case. The frequency of recurrent facial palsy in children was similar to that in adults. Recurrent idiopathic facial palsy is not known enough and needs further controlled studies.

The Melkersson-Rosenthal syndrome: a retrospective study of biopsied cases.

Melkersson-Rosenthal syndrome (MRS) is a rare neuromucocutaneous syndrome marked by the triad of recurrent nonpitting orofacial edema, fissured dorsal tongue (lingua plicata), and lower motoneuron facial paralysis. Large case series including treatment are limited. A retrospective records review was performed for the diagnoses Melkersson-Rosenthal syndrome, granulomatous cheilitis, and orofacial granulomatosis, confirmed by noncaseating granulomas on biopsy, at the Mayo Clinic in Rochester, Minnesota (1979-2009). There were 72 patients [51 women (71 %), mean age at presentation 39 years (range 8-79)] identified with facial edema with noncaseating granulomas on skin biopsy. Lingua plicata occurred in 34 cases (47 %, 95 % confidence interval 35.3-59.3 %). Unilateral or partial facial nerve palsy occurred in 14 cases (19.4, 95 % confidence interval 11.4-30.8 %). Comorbidities among those with facial edema included periodontal disease (n = 10, 14 %), history of allergic disease (n = 10, 14 %), Crohn's Disease (n = 6, 8 %), migraine headaches (n = 5, 7 %), and systemic lupus erythematosus (n = 2, 3 %). There were no patients who had low C1q or C4 levels among those who were tested. Overall, the full triad canonical of Melkersson-Rosenthal syndrome was observed in nine patients (seven female, median age at symptomatic presentation 35 years (range 10-74 years), 13 %, (95 % confidence interval 6.2-22.9 %) with a median time from first symptoms to diagnosis of 4 years (range 1-35). The medication treatments attempted in the nine patients with the full triad of symptoms included non-steroidal anti-inflammatory drugs, oral and intra-lesional steroids, metronidazole, dapsone, acyclovir, methotrexate, and thalidomide with no consistent treatment responses. The Melkersson-Rosenthal syndrome may present over the course of most of the lifespan and may require several years of observation to be diagnosed. Neurologists who observe a combination of facial edema and facial palsy in a patient should consider the diagnosis of MRS and proceed to a diagnostic skin biopsy and a trial of steroid treatment for their patient.

Melkersson-Rosenthal syndrome revisited as a misdiagnosed disease.

PURPOSE: We aimed to attract our college's attention to the Melkersson-Rosenthal syndrome (MRS), which has been an infrequently encountered subject in otolaryngology journals during the last 10 years. MATERIALS AND METHODS: A retrospective review of the last 10 years' patient database was performed to find patients with MRS. The medical files, treatment charts, and radiological and histopathological records of these patients were reviewed. RESULTS: The study group consisted of 3 MRS patients who had been misdiagnosed for 9, 10, and 16 years. Two of them have had the symptoms since adolescence. All of them presented orofacial edema and fissured tongue, whereas first two also had recurrent facial paralysis. Characteristic histopathological features were noted in 1 patient. Electromyography (EMG) was done in 1 patient who underwent facial decompressiom. All patients responded to either systemic or intralesional corticosteroid treatment. CONCLUSIONS: In the daily practice of an otolaryngologist, it is not usual to diagnose a patient as having MRS. We consider that this is partly because of misdiagnosis. We therefore believe that this study will supply an additional aspect to otolaryngologists, in the scope of recurrent facial paralysis and orofacial edema in both children and adults.

Síndrome de Melkersson-Rosenthal. A propósito de un caso con parálisis facial bilateral / Melkersson-Rosenthal syndrome. Report of a case with bilateral facial palsy

El denominado Síndrome de Melkersson-Rosenthal es una enfermedad rara caracterizada por edema facial secundario principalmente localizado en el labio superior, parálisis facial recidivante y lengua escrotal o fisurada. Presentamos el caso clínico de una mujer de 30 años con la triada clásica pero con afectación severa bilateral del nervio facial. Describimos los resultados de todas las pruebas y exploraciones complementarias solicitadas, así como otras patologías asociadas, que llevaron al diagnóstico definitivo junto con la clínica. Finalmente realizamos una breve revisión de la literatura al respecto de esta entidad

Melkersson-Rosenthal síndrome is a rare illness characterized by secondary facial edema mainly located on the upper lip, recurrent facial palsy and plicated or fissured tongue. We report the clinical case of a 30 year-old female with the classic triad but severe bilateral affectation ofthe facial nerve. We describe the results of all the tests and complementary explorations we asked, besides the associated pathologies, that carried us to the definitive diagnosis joint to her symptoms. Finally we have performed a short review of the literature at respect of this entity