Melkersson-rosenthal: reporte de caso clínico de una neurodermatosis infrecuente / Melkersson-rosenthal syndrome: case report of an uncommon neurodermatosis

Resumen: El síndrome de Melkersson-Rosenthal (SMR) es una entidad clínica rara, de patogénesis desconocida. Se manifiesta característicamente por edema orofacial recidivante, lengua fisurada y parálisis recurrente del nervio facial. Representando así undesafío diagnóstico y terapéutico, además de generar importante compromiso social al individuo acometido. El presente artículo tiene como objetivo describir el caso de un paciente de 15años de edad que presentó: edema labial, lengua fisurada y queilitis granulomatosa al examen histopatológico, llevándose a consideración la hipótesis del síndrome citado, con resultados satisfactorios al tratamiento establecido.

Abstract: Melkersson-Rosenthal syndrome (MRS) is a rare clinical entity with an unknown pathogenesis. It clinically manifests in orofacial edema, plicated tongue and recurrent paralysis of the facial nerve. It represents a diagnostic and therapeutic challenge, and has an important psycosocial impact on the affected individual. This study describes the case of a 15-year-old patient who presented with labial edema, plicated tongue and granulomatous cheilitis on histopathological examination, for which a diagnosis of MRS was proposed. The patient showed a good response to treatment.

A 30-year follow-up study of patients with Melkersson-Rosenthal syndrome shows an association to inflammatory bowel disease.

Background: Melkersson-Rosenthal syndrome (MRS) is often classified under the term orofacial granulomatosis (OFG). A part of OFG patients eventually develop Crohn's disease (CD), but the relationship between MRS and CD is unknown. Goals: To evaluate the long-term outcomes of MRS patients, with specific interest in bowel-related symptoms. Study: This follow-up study consisted of adult patients with MRS - including the monosymptomatic form, cheilitis granulomatosa (CG) - who had participated in our earlier MRS study (diagnosed after 1995 in Helsinki University Hospital). A phone interview was conducted with 27 patients (77.1% of the patients from the earlier study) and included questions about orofacial symptoms, facial palsy, intestinal symptoms, concomitant illnesses, medications, possible food avoidances and family history. Stool samples were collected to measure faecal calprotectin, a surrogate marker for intestinal inflammation. Results: The median follow-up time from symptom onset was 30 years. Three (11.1%) patients had developed inflammatory bowel disease (IBD); one CG patient developed CD, and two MRS patients with facial palsy developed ulcerative colitis. In addition, several other patients reported intestinal symptoms, but the examination of faecal calprotectin did not indicate intestinal inflammation. Conclusions: There was a connection between MRS and IBD - not only CD but ulcerative colitis as well. Key message Melkersson-Rosenthal syndrome (MRS) is a chronic condition often classified as a subtype of orofacial granulomatosis. Oral manifestations are common in MRS. We found a connection between MRS and inflammatory bowel disease, not only Crohn's disease but ulcerative colitis as well.

[Recurrent and alternating peripheral facial palsy in a Rehabilitation department]. / Parálisis facial periférica recurrente y alternante en un servicio de Rehabilitación.

Peripheral facial palsy is a relatively frequent condition in rehabilitation departments. The most common aetiology is idiopathic, known as Bell's palsy, which usually has a good prognosis and resolves without sequels. The presence of uncommon symptoms with the facial palsy should lead to suspicion of another possible aetiology, as occurred in the case presented here. Melkersson-Rosenthal's syndrome is one of the entities to keep in mind in the diagnosis of atypical facial palsies. This is an underdiagnosed disease due to the variability of its clinical manifestations. Classically, it manifests as a recurrent and alternating facial edema with peripheral facial palsy and fissured tongue.

Development of a facescan 3D facial reconstruction technology method for quantitative evaluation of cheilitis granulomatosa.

We explored the applicability of Facescan three-dimensional (3D) facial reconstruction technology for adjunctive diagnosis and therapeutic evaluation of cheilitis granulomatosa (CG) in 33 patients with CG and 29 healthy controls at the Dept. of Oral Medicine, Peking University, School and Hospital of Stomatology (PKUSS), from January 2015 to May 2016. The Facescan structured-light 3D facial reconstruction scanner was used to scan the scope of lips in both groups, in order to acquire 3D morphological data of the lips. The lengths of six characteristic line segments were measured from the 3D lip model of the two groups, and the acquired data were compared. The results showed that the distance between the labiale superius and labiale inferius, and the lengths of the upper and lower vermilion borders showed significant differences between the CG and control groups, by using the 3D lip model. Thus, Facescan 3D facial reconstruction technology showed good reproducibility in the evaluation of lip swelling in CG patients, and it can be used to analyse the degree of lip swelling and evaluate the therapeutic efficacy of different treatments for CG.

Facial palsy in Melkersson-Rosenthal syndrome and Bell's palsy: familial history and recurrence tendency.

OBJECTIVE: The aim of this study was to compare genetic predilection and recurrence tendency between facial palsy in Melkersson-Rosenthal syndrome (MRS) and Bell's palsy METHODS: We carried out an investigation on patients with facial palsy in MRS and those with Bell's palsy who visited the outpatient department in our hospital between February 2009 and February 2013. They were asked about familial history and whether it was the first episode, with the results recorded and compared. RESULTS: There were 16 patients with facial palsy in MRS and 860 patients with Bell's palsy involved in the study. Familial history was positive in 5 of 16 patients (31.3%) with facial palsy in MRS and 56 of 860 patients (6.5%) with Bell's palsy (P < .01). Twelve of 16 cases (75%) with facial palsy in MRS and 88 of 860 cases (10.2%) with Bell's palsy had a history of facial palsy in the past (P < .01). CONCLUSION: Compared to Bell's palsy, facial palsy in MRS has an obvious genetic predilection and recurrence tendency.

Macroquelia, queilitis granulomatosa y enfermedad de Crohn / Macrocheilia, granulomatous cheilitis and Crohn's disease

La queilitis granulomatosa es una enfermedad poco frecuente incluida dentro de las granulomatosis orofaciales. Se caracteriza por ser una inflamación crónica idiopática de la mucosa labial (macroquelia), que cursa en forma de brotes episódicos y progresivos. En un 10% de los pacientes se asocia a la enfermedad de Crohn. Presentamos un caso clínico de queilitis granulomatosa que precede en 2 años al diagnóstico de la enfermedad de Crohn, haciendo referencia a la forma de presentación, evolución y tratamiento. Concluimos que la queilitis granulomatosa es una entidad infrecuente, con pocos casos descritos, aunque probablemente infradiagnosticada por su desconocimiento. El diagnóstico de la queilitis granulomatosa es esencialmente clínico, aunque es determinante la evaluación histológica. Después de realizar su diagnóstico se debe recomendar la evaluación integral del paciente, para descartar el resto de las asociaciones sindrómicas descritas en la literatura médica (AU)

Granulomatous cheilitis is a rare disease included among the orofacial granulomatoses. It is characterized by a idiopathic chronic inflammation of the labial mucosa (macrochelia), which takes the form of episodic and progressive outbreaks. In 10% of patients, it is associated with Crohn’s disease. We report the presentation, evaluation and treatment of a case of granulomatous cheilitis which appearted two years after the onset of Crohn’s disease. We conclude that granulomatous cheilitis is rare in children, with few reported cases, although probably underdiagnosed because of lack of awareness. The diagnosis of granulomatous cheilitis is clinical, although the histological evaluation is a determining factor. After making the diagnosis a comprehensive assessment of the patient is recommended, to rule out the other associated syndromes described in the literature (AU)

Melkersson-Rosenthal syndrome with isolated immunoglobulin E hypogammaglobulinaemia.

Melkersson-Rosenthal syndrome (MRS) is a rare disorder classically presenting with a triad of recurrent orofacial swelling, facial palsy and a fissured tongue. This case report describes a case of MRS in a patient with isolated immunoglobulin E (IgE) hypogammaglobulinaemia. The 52-year-old woman presented with puffy eyelids, lower lip swelling and right facial nerve palsy. Fissures of the tongue were also noted. On investigation she was found to have a markedly low serum IgE level. This case report clearly indicates that IgE-mediated reactions do not play a significant role in the development of MRS.

[A case of Rossolimo-Melkersson-Rosenthal disease].

The article describes Rossolimo-Melkersson-Rosenthal disease (RMRD); historical background and the modern concept of its pathogenesis are presented in brief. The clinical picture of the disease is described in more detail; the variants of the course of the disease and the manifestations of the monosymptomatic, bisymptomatic, and triadic variants are presented. The article contains a clinical observation of a female patient aged 38, whose first symptoms developed at the age of 18 as facial neuritis and left mimic musculature paresis. With time, the patient developed all the three characteristic components of RMRD.

[Diagnostics of diseases and the function of the facial nerve]. / Diagnostik von Erkrankungen und der Funktion des N. facialis.

The facial nerve has a complicated course from the brainstem to the periphery. It not only contains motor, but also secretory, sensory, and sensitive fibres. Thus, the functional measure of symptoms can be multi-faceted. The nerve is not directly accessible over an extensive distance because of its long course through the temporal bone. Therefore, diagnostics of nerve function and the differential diagnostics of its diseases could be a great challenge for the otolaryngologist. In this review, the most important methods for clinical examination, electrodiagnostics, and modern imaging techniques are critically surveyed. In addition, the significance of facial nerve monitoring for surgery in the cerebello-pontine angle, parotid surgery, and ear surgery is presented.

Recurrent facial nerve palsy in paediatric patients.

UNLABELLED: The aim of the study was to investigate the clinical presentation and prognosis of recurrent facial nerve palsy (RFNP) in children. The files of 182 patients referred to the Schneider Children's Medical Centre of Israel for neurological evaluation of isolated peripheral facial nerve palsy between October 1992 and December 1998 were reviewed. RFNP was found in 11 patients (9 females, 2 males), with an incidence of 6%. In two males, the aetiology was traced to Melkersson-Rosenthal syndrome and these patients were separated from the rest of the group. Three children had two episodes of facial nerve paresis which completely resolved clinically within several weeks. Six other children underwent electrophysiological studies. Two of the latter with residual neurological damage, and one child with abnormal blink reflex only, showed decreased facial nerve conduction velocity and abnormal blink reflex. Three children with complete recovery had disturbed blink reflex only with normal nerve conduction. Brain imaging studies as well as laboratory work-up were non-contributory in all cases. CONCLUSION: The frequency of recurrent facial nerve palsy in children was similar to that in adults. The most significant factors in the evaluation of recurrent facial nerve palsy are medical history and physical findings at diagnosis and after short follow-up. In our patients, electrophysiological studies did not have either clinical or prognostic significance. The rate of full clinical recovery is about 70%, lower than in Bell palsy.