Melkersson-Rosenthal Syndrome Research Articles

Miescher’s cheilitis granulomatosa: a case report

Miescher’s cheilitis granulomatosa (MCG) is a rare idiopathic chronic persistent painless lip swelling with granulomatous infiltrate. It is often associated with orofacial granulomatosis and Melkersson—Rosenthal syndrome. Sometimes cheilitis granulomatosa is attributed to sarcoidosis (Besnier—Boeck—Schaumann disease) without systemic lesions. Although there is a possibility that it is a separate disease. Secondary causes include a reaction in response to infection with Mycobacterium tuberculosis, as well as to the introduction of tissue fillers.The publication presents a clinical case of Miescher’s cheilitis, the probable cause of which were the following infectious agents: long­term untreated caries of many teeth and COVID­19.Patient K., 46 years old, complained of swelling and enlargement of the lower lip, a feeling of numbness and discomfort. She fell ill a week ago. Swelling formed gradually over 6—7 days without disturbing the general condition; the body temperature was within the normal range. The lips were swollen, increased in size, slightly hyperemic, the lower one was turned outwards. The lips had a soft­elastic consistency and were not painful to palpate. Pain, tactile and temperature sensitivity were preserved. Dermoscopy was performed. White­grey, structureless areas forming a reticular pattern were observed on the entire surface of the examined area. The vessels were not clear, full­blooded, visualised in the surrounding skin at a considerable distance from the lip edge. The patient was prescribed systemic and topical corticosteroids, hydroxychloroquine, and hyaluronidase. The oral cavity was sanitised. During the month of treatment, the swelling of the lips gradually decreased. At the control examination in two months, the patient’s lip size decreased by 2—2.5 times. There was no relapse of the disease.Conclusions. In our opinion, Miescher’s cheilitis granulomatosa is a separate type of cheilitis, probably of autoimmune nature, in the implementation of which bacterial and viral infectious agents play an important role (focal infection, caries, maxillary sinusitis, frontitis, etc.). The recovery of our patient after the sanitation of the infection foci and complex anti­inflammatory therapy is a convincing proof.

Granulomatous cheilitis and lingua plicata – An incomplete triad of Melkersson–Rosenthal syndrome

Granulomatous cheilitis is a rare granulomatous inflammatory disorder characterized by chronic swelling of the lips. It is an oligosymptomatic form or an incomplete form of Melkersson–Rosenthal syndrome, which comprises recurrent orofacial edema, facial nerve palsy, and fissured tongue. Here, we present a case of a 45-year-old female with persistent upper lip swelling for three months.

Melkersson-rosenthal sendromu

The Melkersson-Rosenthal syndrome (MRS) is a rare neuro mucocutaneous granulomatous disease presenting with recurrent peripheral facial paralysis, orofacial oedema, and fissured tongue. The coexistence of the classic clinical triad is rare. Clinical findings and examination make the diagnosis. It should be considered in the differential diagnosis of recurrent facial paralysis. In this case report, a 42-year-old female patient with the classical triad of MRS is presented.

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.

Melkersson-Rosenthal Syndrome: A Case Report

Melkersson-Rosenthal syndrome (MRS) is defined by the triad of labial edema, peripheral facial paralysis, and plicated tongue. It is a complex entity with clinical polymorphism and unknown etiopathogenesis. A better understanding of the pathophysiological mechanisms would improve the management of these patients, who often present with significant aesthetic damage. We report a rare case of this syndrome with a plicated tongue and sequellar lagophthalmos.

Granulomatous cheilitis of Miescher: a rare entity

BackgroundGranulomatous 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 presentationWe 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.ConclusionGC 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.

OROFACIAL GRANULOMATOSIS – A REVIEW

Orofacial Granulomatosis (OFG) is a rare clinicopathological entity characterized clinically by the presence of continuous enlargement of the soft tissues of the oral and maxillofacial region and histologically by non-caseating and non-necrotizing granulomatous inammation. The term 'orofacial granulomatosis' has been introduced to indicate the group of various disorders, involving Melkersson-Rosenthal syndrome and granulomatous cheilitis and has been noted to be associated with Sarcoidosis, Crohn's disease and infectious diseases such as Tuberculosis. But, various etiological agents such as food additives, dental materials and microbial agents have been recommended in the disease process. Treatment of orofacial granulomatosis is by corticosteroids but it's not so efcient. It is more important to nd the pathogen rst to specify the appropriate treatment line.

The Importance of the Dental Factor in the Pathogenesis of Melkersson-Rosenthal Syndrome

The Importance of the Dental Factor in the Pathogenesis of Melkersson-Rosenthal Syndrome

Photogallery of diseases of the oral mucosa. Part I

Nowadays, more than 300 diseases of the oral mucosa have been established in the scientific literature. Since pemphigus vulgaris and lichen planus can mimic many other skin conditions it could be difficult to make the diagnosis according only to clinical features. Moreover, pemphigus vulgaris is known to be an autoimmune life-threatening disorder which necessarily need to be treated with high doses of systemic glucocorticoids, whereas lichen planus in some cases can be transformed into squamous cell carcinoma.
 The drug associated erythema and the herpes associated erythema multiforme both affect not only the oral mucosa but also the skin, which makes differential diagnosis easier. Nevertheless, in our practice we can encounter only the oral cavity involvement. Previously, StevensJohnson syndrome was considered as severe form of erythema multiforme affecting both the skin and the oral mucosa.
 Additionally, cheilitis can be observed in patients with atopic dermatitis even in the remission stage.
 Furthermore, MelkerssonRosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips, and the development of folds and furrows in the tongue.

Síndrome de Melkersson-Rosenthal: relato de caso clássico

ABSTRACT The Melkersson-Rosenthal syndrome constitutes a rare manifestation characterized by a triad of signs and symptoms: recurrent orofacial edema, fissured tongue, and recurrent facial paralysis. The difficulty in diagnosing Melkersson-Rosenthal syndrome is that orofacial edema is common to various diseases besides the lack of awareness of the syndrome by health professionals and the frequent metachronous manifestation of its symptomatology. The aim of this report is to present a classical case of Melkersson-Rosenthal syndrome and its clinical and therapeutic approach. A patient who sought for assistance at the Stomatology Clinic presented a synchronous manifestation of the triad: a left lip and cheek nonpitting edema accompanied by facial paralysis on the same side and fissured tongue. Melkersson-Rosenthal syndrome was diagnosed due to the presence of the triad of signs and symptoms after initially ruling out Crohn’s disease, Sarcoidosis, and tuberculosis due to a lack of intestinal or respiratory complaints and absence of other clinical evidence. The treatment administered was steroids, the most common treatment with a satisfied prognosis we found in the literature for Melkersson-Rosenthal syndrome patients. We recommend its implementation intralesional injections of betamethasone dipropionate as after four infiltrations the edema subsided by 80% with no further relapses within one-year follow-up.

Melkersson–Rosenthal Syndrome (MRS): Multiple, Recurring, and Swelling

Melkersson–Rosenthal Syndrome (MRS): Multiple, Recurring, and Swelling

Oral Mucosal Lesions - A Study of 369 Cases.

Diagnosing and treating oral cavity lesions is a challenging task for most of the clinicians due to similar symptoms and clinical appearances. Frequently, histopathology and immunohistochemistry aid in making the diagnosis. The objectives were to describe the clinical features, and histopathological features and systemic association in patients with oral mucosal lesions (OML). A cross-sectional descriptive study was undertaken at a tertiary care centre in patients with OML. A total of 369 cases with OML were included in the study. Males constituted 61.78% of the cases. History of habits such as tobacco, gutka chewing, smoking, and alcohol was given by 32.25%, 29.81%, 26.56%, and 11.38% of cases, respectively. Common symptoms were soreness, burning sensation, oral pain and ulcers. Both oral and cutaneous involvement was seen in 17.89% of cases. Oral lichen planus (oral LP) constituted largest group of patients (21.96%) wherein reticulate type was the most frequent type and buccal mucosa was the commonest site. Oral carcinomas constituted 20.33% of cases followed by infective etiology (11.92%), vesiculobullous group of diseases (10.30%), aphthous stomatitis (8.94%), premalignant lesions (7.05%) such as leukoplakia (3.80%) and submucous fibrosis (2.44%). Histopathology was done in 209 cases. Clinico-histopathological correlation was seen in oral LP (90.27%), oral pemphigus (82.35%), and malignancies (98.66%). Oral LP formed the largest group of cases followed by Oral squamous cell carcinoma (SCC). Several rare conditions, such as Melkersson-Rosenthal syndrome and blue rubber bleb nevus syndrome were also a part of the study. Thorough clinical and histopathological examination in this diverse group of diseases clinches the diagnosis.

Treatment of Orofacial Granulomatosis—9-Month Follow-up: A Case Report

Orofacial granulomatosis is a condition that manifests clinically as painless labial enlargement, perioral and mucosal edema, oral ulcers, and gingivitis. It is characterized by non-necrotizing granulomatous inflammation of the oral and maxillofacial region. When the swelling only affects the lips, the pathology is called Miescher's granulomatous cheilitis; however, when it also causes facial paresis and lingua plicata, it is known as Melkersson-Rosenthal syndrome. We report a case that was successfully treated with a combination of a local (intralesional) steroid, a systemic antibiotic, and a systemic steroid. After 6 months of therapy, we observed improvement in gingival hyperplasia and buccal mucosa and lip edema.

Complete clinical spectrum of melkersson–Rosenthal syndrome with bilateral temporal optic disc pallor – A case report

Complete clinical spectrum of melkersson–Rosenthal syndrome with bilateral temporal optic disc pallor – A case report

Peripheral facial nerve palsy in children: clinical manifestations, treatment and prognosis.

Sudden onset of unilateral weakness of the upper and lower muscles of one side of the face is defined as peripheral facial nerve palsy. Peripheral facial nerve palsy is often idiopathic and sometimes it could be due to infectious, traumatic, neoplastic, and immune causes. This study aimed to report the clinical manifestation, evaluation, and prognosis in children with peripheral facial nerve palsy. 57 children under 18years of age diagnosed with peripheral facial nerve palsy at Çukurova University, Balcalı Hospital, between January 2018 and September 2021, were included in the study. The mean age of the children at the time of diagnosis was 9.6 ± 7, 4years. Thirty-two (56.1%) of the patients were female and 25 (43.9%) were male. A total of 57 patients were diagnosed with peripheral facial nerve palsy and categorized into many groups by etiology: idiopathic Bell's palsy in 27 (47.5%), infectious in 11 (19.2%), traumatic in 6 (10.5%), and others (due to congenital, immune, neoplastic, Melkersson-Rosenthal syndrome, drug toxicity, and iatrogenic causes) in 13 (22.8%). Forty-six of the children achieved full recovery under oral steroids within 1-7months. Four patients with acute leukemia, myelodysplastic syndrome, Mobius syndrome and trauma did not recover and two patients (schwannoma, trauma) showed partial improvement. Five patients could not come to follow-up control. Peripheral facial nerve palsy is a rare condition in children with different causes. It could be idiopathic, congenital, or due to infectious, traumatic, neoplastic, and immune reasons. So, when a child presents with facial palsy, a complete clinical history and a detailed clinical examination are recommended. Giving attention to the red flag is very important. Peripheral facial nerve palsy in children is considered to have a good prognosis.

Rossolimo–Melkersson–Rosenthal syndrome as a manifestation of lip sarcoidosis

A 38-year-old female patient complained of lip augmentation. With a preliminary diagnosis of RossolimoMelkerssonRosenthal syndrome (monosymptomatic form), chronic fissure of the lower lip, the patient was sent for examination in order to exclude tumor pathology and vascular malformation. According to the results of a comprehensive clinical and laboratory examination, it was found that lip enlargement is due to the formation of granulomas. Additional follow-up by a pulmonologist confirmed the presence of sarcoidosis of the lungs with involvement of the mediastinal lymph nodes. A comprehensive examination made it possible to verify the diagnosis of multisystem sarcoidosis in a patient with macrocheilitis. As a result of complex therapy using surgical methods and systemic glucocorticosteroids, a rapid dynamics of clinical symptoms was observed and remission was achieved. This clinical case demonstrates a combination of sarcoid lesions of the tissues of the mediastinal lymph nodes, lung parenchyma and lips. It was the presence of macrocheilitis that was the main reason for visiting a dermatovenereologist and was the reason for choosing the subsequent tactics of examination and treatment. As a result of complex therapy using surgical methods of treatment and systemic glucocorticosteroids, carried out entirely within the framework of the program of state guarantees of free medical care for citizens, a stable remission of the disease was achieved.

Melkersson-Rosenthal syndrome in children and adolescents: a series of seven cases

Melkersson-Rosenthal syndrome in children and adolescents: a series of seven cases

Melkersson-Rosenthal Syndrome: A Mysterious Path to Recurrent Facial Palsy

Melkersson-Rosenthal syndrome (MRS) is a rare neuro-mucocutaneous syndrome of unknown etiology with chronic and progressive course, and clinical diagnosis is usually by exclusion. Rarely, it presents with the full triad of recurrent or persistent facial swelling, relapsing facial palsy, and a fissured, geographic tongue. It is rarely possible to observe all aspects of the classical triad at the same time, since these symptoms may appear in different times of life cycle. Although etiology of MRS is unclear, various factors such as infections, genetic predisposition, immune deficiency, food intolerance and stress have been held responsible. The differential diagnosis of MRS includes also chronic inflammatory and infective diseases characterized by granulomatous infiltration, as well as rosacea, contact dermatitis, allergic reactions and Bell’s palsy. The therapeutic options are varied, though most commonly include corticosteroid therapy and nerve decompression surgery

Melkersson–Rosenthal syndrome. Clinical case

This clinical case is of interest due to the rare occurrence of MelkerssonRosenthal syndrome in the population, as well as the difficulty in diagnosing and achieving remission of this disease.
 MelkerssonRosenthal syndrome is a rare chronic relapsing dermatosis in the population, in typical cases characterized by a triad of symptoms: macrocheilitis, neuropathy of the facial nerve and folding of the tongue. However, much more often the disease manifests monosymptomically. The etiology of the syndrome has not been definitively studied: the infectious and allergic component, inflammatory processes of the facial nerve, genetic predisposition, as well as contact with metals (cobalt and gold) are considered as the determining causes. The diagnosis is based on clinical data and the results of a pathomorphological study. With a monosymptomatic (only the presence of macroheilitis) course of MelkerssonRosenthal syndrome, a differential diagnosis is carried out with angioedema Quincke, lymphangioma, hemangioma, lip abscess and other cheilitis.
 The clinical picture of dermatosis is localized on the face and is a significant problem, significantly affecting the social status of patients and is highly threatened in relation to the development of dysmorphophobia.
 The presented clinical case is rare in the practice of a dermatologist, patients with a similar pathology turn to dentists, allergists, where the clinical picture is regarded as Quinckes edema. Given the rare occurrence of MelkerssonRosenthal syndrome in the population and the difficulty of diagnosing the disease, the presented clinical case is indicative, since in our case the patient has only 2 main symptoms (folded tongue, macrocheilitis) and there is no clinical picture of facial neuritis.
 Timely diagnosis and a thorough examination of patients with MelkerssonRosenthal syndrome contribute to the greatest effectiveness of therapy and the achievement of a stable remission of the disease.

Familial Facial Palsy: A Case Series of Six Families from the Northern State, Sudan

Familial facial palsy is uncommon, accounting only for 4–14% of Bell's palsy cases. We report six families with single or recurrent episodes of familial facial palsy from Northern State, Sudan. The first family had two brothers with single episodes of Bell's palsy. The index case of the second family was a 19-year-old female who and nine other members of her family had a single or recurrent episodes of Bell's palsy. The third, fourth, fifth, and sixth families had eight, five, four, and five members, respectively, who developed either single or recurrent episodes of Bell’s palsy. None of the index cases or other members of the six families who were examined showed evidence of facial swelling or fissured tongue suggestive of Melkersson-Rosenthal syndrome. Literature review revealed two studies on Bell's palsy from Sudan but no studies on familial facial palsy. The mode of inheritance was either autosomal dominant with variable penetrance or autosomal recessive. In the second family, there could be a possibility of autosomal recessive inheritance due to increased number of cases after consanguineous marriage. Steroids remain the mainstay of treatment together with protective eye regimens. The role of physiotherapy, although widely used, is controversial. Genetic analysis is recommended and family history should be considered in patients with Bell's palsy.