Monosymptomatic Form Research Articles

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.

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.

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.

Miescher’s cheilitis: A case report with literature review

Miescher’s cheilitis is an inflammatory disorder characterized by chronic lip swelling due to granulomatous inflammation. It is rare disorder first described by Miescher in 1945. It is monosymptomatic form of Melkersson-Rosenthal syndrome. We report a case of Miescher’s cheilitis in a 59-year old lady presented with recurrent swelling and erythema of upper lip and submental area with no features of facial palsy and fissuring of tongue. Laboratory tests including serum complement C3, C4 and C1 esterase inhibitor functional were within normal limits. The biopsy from the upper lip revealed dermal edema, dilated lymphatic channels and multiple granulomas. After exclusion of other causes of orofacial granulomatosis, the diagnosis of Miescher’s cheilitis was made. Patient was treated with oral hydroxychloroquine and topical tacrolimus and mometasone cream with gradual improvement.

Selected presentations of lip enlargement: clinical manifestation and differentiation.

Lip enlargement may be an important symptom of either systemic or local diseases. On the basis of selected age-matched clinical cases we present the possible causes of lip swelling. We describe the most representative symptoms and recommend treatment of these pathologies. We differentiate lip swelling in Miescher syndrome, monosymptomatic form of Melkersson-Rosenthal syndrome, lip swelling in erythema multiforme and Stevens-Johnson syndrome and lip hemangioma and mucous extravasation cyst. We compare different causes of lip edema and indicate the most helpful diagnostic and treatment methods.

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Congenital bilateral absence of the vas deferens (CBAVD) is found in 1% to 2% of males with infertility and is present in 6% of obstructive azoospermia cases. Nearly 95% of men with cystic fibrosis (CF, an autosomal recessive disorder) have CBAVD. There are genetic links between CBAVD and CF. Some mutations in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR) can lead to CBAVD as a monosymptomatic form of CF. With the use of assisted reproductive techniques (ART), especially testicular or epididymal sperm aspiration, intracytoplasmic sperm injection, and invitro fertilization, it is possible that men with CBAVD can produce offspring. Therefore, genetic counseling should be offered to couples undergoing ART to discuss the probability of having offspring that carry CFTR gene mutations. The aim of this review was to present the main cause of CBAVD, to call attention to its implications for assisted reproduction, and to show the importance of genetic counseling for couples where men have CBAVD, as they can have offspring with a lethal disease.

Disseminate recurrent folliculitis as the presenting picture of hidradenitis suppurativa

Hidradenitis suppurativa (HS) has a polymorphous clinical presentation. Herein we report two cases of HS revealed by disseminate recurrent folliculitis. PATIENTS AND METHODS CASE 1: A 31-year-old woman consulted for disseminate recurrent folliculitis on the trunk and proximal segments of the limbs that had been ongoing for several years. No other cutaneous lesions were seen, particularly in the classic area for HS lesions. Weight loss and treatment with azithromycin 500mg/day resulted in complete remission, but relapse occurred on dosage reduction. CASE 2: The elder sister of patient 1, who was also obese and 10 years her senior, presented a similar clinical history, although in addition, she was presenting lesions characteristic of HS on her armpits and inguinal folds; further, she had undergone an operation 3 years earlier for pilonidal sinus. Three months of combined treatment with rifampicin and clindamycin 900 mg/day followed by long-term doxycycline 200mg/day resulted in marked improvement. Disseminate folliculitis is not infrequent during the course of HS; it forms part of the clinical picture and is particularly common in the follicular phenotypic variant; however, it is not part of the diagnostic criteria as defined consensually by the Hidradenitis Suppurativa Foundation. The cases we report suggest that a setting of disseminate recurrent folliculitis may constitute the mode of presentation of HS, and may even represent an atypical monosymptomatic form of HS. Disseminate recurrent folliculitis constitutes part of the clinical picture of HS; if it is isolated, screening should be performed for personal or familial signs of HS.

Cheilitis granulomatosa: Case series

Granulomatous cheilitis is an idiopathic inflammatory disorder characterized by persistent, asymptomatic, diffuse swelling of one or both lips. It is also considered as an oligosymptomatic or monosymptomatic form of Melkersson–Rosenthal syndrome. We herewith report five cases of granulomatous cheilitis of which three cases were females and two were males. The mean age was 41 years. The average duration of symptoms was 2.5 years (2–3 years). Four patients presented with asymptomatic persistent swelling of the upper lip and one patient with lower lip. Two cases showed associated fissuring and angular cheilitis. One case also showed involvement of the left cheek. All the patients showed moderate improvement with combination of minocycline and intralesional triamcinolone therapy.

Pharmacological treatment for Kleine-Levin syndrome.

This is an updated version of the original Cochrane review, published in 2009, Issue 2.Kleine-Levin syndrome (KLS) is a rare disorder that mainly affects adolescent men. It is characterised by recurrent episodes of hypersomnia, usually accompanied by hyperphagia, cognitive and mood disturbances, abnormal behaviour, such as hypersexuality, and signs of dysautonomia.In 1990, the diagnostic criteria for Kleine-Levin syndrome were modified in the International Classification of Sleep Disorders, where KLS was defined as a syndrome comprised of recurring episodes of undue sleepiness lasting some days, which may or may not be associated with hyperphagia and abnormal behaviour. According to the International Classification of Sleepiness Disorders, 3rd version (ICSD-3), revised in 2014, the Kleine-Levin syndrome is a disorder characterized by recurrent episodes of hypersomnia that last from two days to four weeks, with at least annual recurrence, and hyperphagia (rapid consumption of a large amount of food), usually with onset in early adolescence in males but occasionally in later life and in women. A monosymptomatic form of the disorder with hypersomnia only can occur without binge eating or hypersexuality.The cause of Kleine-Levin syndrome remains unknown, and several treatment strategies have been used. Some medications have been reported to provide benefit in the treatment of patients with KLS, but because of the rarity of the condition, no long-term follow-up therapies have yet been described. This review aimed to evaluate:1. whether pharmacological treatment for Kleine Levin syndrome was effective and safe.2. which drug or category of drugs was effective and safe. For the latest update, we searched the following sources: the Cochrane Epilepsy Group Specialized Register (7 April 2016); the Cochrane Central Register of Controlled Trials (CENTRAL) via the Cochrane Register of Studies Online CRSO (7 April 2016); MEDLINE (1946 to April 2016); LILACS (7 April 2016); ClinicalTrials.gov (7 April 2016); WHO International Clinical Trials Registry Platform ICTRP (7 April 2016); reference lists of sleep medicine textbooks; review articles and reference lists of articles identified by the search strategies. All randomised controlled trials (RCTs) and quasi-randomised controlled trials looking at pharmacological interventions for Kleine-Levin syndrome were eligible. We had planned to include both parallel-group and cross-over studies. Two review authors (MMO and CC) had planned to extract the data reported in the original articles. No studies met the inclusion criteria for this systematic review. Therapeutic trials of pharmacological treatment for Kleine-Levin syndrome with a double-blind, placebo-controlled design are needed.

Cheilitis granulomatosa (Miescher granulomatous macrocheilitis) with Down syndrome: A rare alliance

Melkersson–Rosenthal syndrome comprises of the triad of orofacial swelling, facial paralysis, and fissured tongue. It may present in monosymptomatic form as Meischer granulomatous cheilitis. Herein we report an unusual association of Meischer's cheilitis with Down syndrome.

The clinical presentation of coeliac disease in 1030 Swedish children: Changing features over the past four decades

BackgroundThe features of paediatric coeliac disease have changed in recent decades. We hypothesised that the age at diagnosis might continue to increase, whereas the severity of symptoms should decrease. MethodsIn the present study, filed data on 1030 paediatric patients diagnosed with coeliac disease between 1973 and 2013 were analysed. The information available covered 99.8% of small bowel biopsies and included information on sex, age and clinical symptoms. ResultsThe age at diagnosis increased significantly, from a mean of 2.2 years during the first 10 years to 8.2 years in recent years. The proportion of children with severe symptoms declined from 92.8% to 78%, as did the proportion of biopsies characterised by severe pathology. In recent years, the monosymptomatic form of coeliac disease has been more common, and the number of patients detected at screening has increased. The frequency of patients with gastrointestinal symptoms, extra-intestinal symptoms, and failure to thrive and/or short stature at presentation decreased. ConclusionsThe mean age of newly diagnosed patients has increased over the last 15 years. Currently, coeliac disease shows a less severe picture in terms of symptoms and intestinal pathology. Younger children suffer primarily from gastrointestinal symptoms and growth failure, and adolescents from extra-intestinal manifestations.

Melkersson-Rosenthal syndrome.

Melkersson-Rosenthal syndrome.

Cheilitis granulomatosa: A case report with review of literature

Cheilitis granulomatosa (CG) is a chronic swelling of the lip due to granulomatous inflammation. It is a rare inflammatory disorder first described by Miescher in 1945. It is a monosymptomatic form or an incomplete variant of Melkersson-Rosenthal syndrome; a triad of recurrent orofacial edema, recurrent facial nerve palsy and fissuring of the tongue. As the etiology remains unknown, treatment of CG is challenging. We present a case of CG in a 43-year-old female patient secondary to allergy to certain food items. The present case highlights the importance of thorough investigations in the diagnosis of this lesion as the findings mimic many other granulomatous conditions.

Granulomatous Cheilitis: A Report of 6 Cases and a Review of the Literature

IntroductionGranulomatous cheilitis (Miescher cheilitis), a condition characterized by recurrent swelling of the lips, is the most common monosymptomatic form of the Melkersson-Rosenthal syndrome. The aim of this study was to study the characteristics of patients diagnosed with granulomatous cheilitis at the dermatology department of our hospital over a period of 17 years. Material and methodsWe performed a descriptive study of patients diagnosed with granulomatous cheilitis at our hospital between January 1993 and January 2010. ResultsThe condition was diagnosed in 6 patients (4 women and 2 men), with a mean age of 49 years at the time of diagnosis. All the patients had recurrent swelling of the upper lip and 2 also had swelling in other parts of the face. The mean time from the onset of symptoms to the initial visit was approximately 16 months. There were no cases of facial palsy, and just 1 patient had a fissured tongue. None of the patients developed Crohn disease or any other granulomatous disorders during follow-up. ConclusionsGranulomatous cheilitis is a rare disease. None of the patients in our series had gastrointestinal or neurologic symptoms. Accordingly, we believe that granulomatous cheilitis is an independent orofacial granulomatous disease which most often presents without accompanying signs or symptoms

Queilitis granulomatosa. Presentación de 6 casos y revisión de la literatura

IntroductionGranulomatous cheilitis (Miescher cheilitis), a condition characterized by recurrent swelling of the lips, is the most common monosymptomatic form of the Melkersson-Rosenthal syndrome. The aim of this study was to study the characteristics of patients diagnosed with granulomatous cheilitis at the dermatology department of our hospital over a period of 17 years. Material and methodsWe performed a descriptive study of patients diagnosed with granulomatous cheilitis at our hospital between January 1993 and January 2010. ResultsThe condition was diagnosed in 6 patients (4 women and 2 men), with a mean age of 49 years at the time of diagnosis. All the patients had recurrent swelling of the upper lip and 2 also had swelling in other parts of the face. The mean time from the onset of symptoms to the initial visit was approximately 16 months. There were no cases of facial palsy, and just 1 patient had a fissured tongue. None of the patients developed Crohn disease or any other granulomatous disorders during follow-up. ConclusionsGranulomatous cheilitis is a rare disease. None of the patients in our series had gastrointestinal or neurologic symptoms. Accordingly, we believe that granulomatous cheilitis is an independent orofacial granulomatous disease which most often presents without accompanying signs or symptoms

Treatment Efficacy in Vertebrobasilar Transient Ischemic Attacks Presenting as Isolated Vertigo: A Retrospective Case Study

Background: Vertigo without other neurological symptoms is usually not supposed to be due to a vascular cause. How-ever, hypoperfusion of the anterior cerebellar artery can lead to ischemia of the vestibular labyrinth and/or vestibular nuclei in the pontomedullary region whereas hypoperfusion of the posterior cerebellar artery can cause ischemia of the vestibulocerebellum, all resulting in isolated vertigo. Methods: We retrospectively reviewed the clinical records of pa-tients with vertebrobasilar ischemic attacks referred to our outpatient dizziness clinic during the years 1999-2009. Pa-tients who presented only with vertigo (+/– vomiting and unsteadiness) were selected. Their clinical data, findings and treatment responses were recorded. Results: Amongst about one hundred patients with vertebrobasilar TIA we found 24 patients with monosymptomatic presentation. Their mean age was 67.3 years, fifteen were men. In most of the patients the vertigo attacsk were multiple and lasted from minutes to hours. All but four patients had at least one vascular risk factor at the time of presentation ,among them 13 had multiple vascular risk factors. Seven patients had evidence of chronic ischemic changes on brain CT or MRI .Aspirin (100 - 325 mg/die) was started in 15 patients. Three patients were started on clopidogrel (75 mg/die) because of aspirin intolerance and two patients on warfarin due to atrial fibrilla-tion. In two patients who were treated with aspirin prior to their vertigo attack, clopidogrel or dipyridamol were added. The mean time period from first attack to treatment initiation was 5.2 months. The mean follow up period was 27.4 months. In 18 patients the attacks have completely resolved after treatment initiation. Three patients had further vertigo attacks despite treatment. Two patients with vertigo episodes where a vascular etiology was not suspected, developed later an ischemic stroke in the vertebrobasilar territory (anterior cerebellar artery and vertebral artery infarct). Conclusions: The differential diagnosis of a vertigo attack presenting in a monosymptomatic form should include vertebrobasilar TIA, especially in individuals with vascular risk factors. In view of lack of a specific test for establishing the diagnosis antiplatelets should be administered on empirical grounds since early administration of therapy can abolish further attacks and prevent a vertebrobasilar stroke. Warfarin should be preserved for patients with cardiac conditions that warrant antiocoagulation for stroke prevention.

Orofacial granulomatosis: A case report with review of literature

Orofacial granulomatosis (OFG) encompasses conditions characterized by non-necrotizing granulomatous inflammation of the oral and maxillofacial region that present clinically as labial enlargement, perioral and/or mucosal swelling, oral ulcerations, and gingivitis. The unifying term “OFG” has been introduced to integrate the spectrum of various disorders, including Melkersson-Rosenthal syndrome and granulomatous cheilitis (which is sometimes considered to be a monosymptomatic form of Melkersson-Rosenthal syndrome), and has been shown to be associated with Crohn's disease, sarcoidosis, and infectious diseases such as tuberculosis. Although various etiological agents such as food substances, food additives, dental materials, and various microbiological agents have been implicated in the disease process, its precise pathogenesis is yet to be elucidated. Delayed type of hypersensitivity reaction appears to play a significant role, although the exact antigen inducing the immunological reaction varies in individual patients. However, evidence for the role of genetic predisposition to the disease is sparse. The underlying immunological mechanism appears to show some similarities between OFG and Crohn's disease, emphasizing the need for more comparative studies of the two entities. The aim of this article is to report a case of OFG, along with a detailed literature review of the facts and variations associated with its nomenclature, clinical presentation, and etiology. It also projects the challenges that a professional has to face in the diagnosis and treatment planning of such cases.

Melkersson-Rosenthal syndrome: A case report

TThis paper presents a case of 60 years old patient with oligosymptomatic form of the Melkersson-Rosenthal syndrome. This syndrome is characterized by three symptoms: swelling of the lips and face, unilateral facial palsy, and lingua plicata. The literature often includes information on monosymptomatic form of the syndrome and granulomatous chelitis, or the existence of only two symptoms of the classic triad. The anamnesis, clinical and histopathological findings in this case confirmed the existence of chronic granulomatous inflammation confined to the lower lip, indicating an oligosymptomatic form of Melkersson-Rosenthal syndrome. The treatment included application of prednisone at a dose of 25 mg daily, with histamine H1- and H2 anatagonists, and antibiotic ofloxacin for urinary tract infection.

Melkersson Rosenthal syndrome: a histopathologic mystery and dermatologic challenge

Melkersson Rosenthal syndrome (MRS) is rare disease of unknown etiology characterized by orofacial edema, facial nerve palsy and fissured tongue. Microscopically, it shows epithelioid non-caseous granulomas; however, edema and perivascular lymphocytic infiltrates have been described. Two different clinical forms of MRS are presented in this report. In the complete form (Case 1), the main histopathologic finding was a non-necrotizing granulomatous inflammation with 56% of the total number of cells composed of B cells (CD 20(+) ) principally located in the granuloma's center and 33% being T cells predominating in the surrounding area, of which 48% were CD 4(+) and 16% were CD 8(+) lymphocytes. In the monosymptomatic form (Case 2), the inflammatory cells were dispersed into the connective tissue without granulomatous formation. B cells were scanty, and 78% of the cells were CD 45(+) T cells, with 46% and 34%, CD 8(+) and CD 4(+) phenotype, respectively. These cases showed different clinical, histopathological and immunohistochemical forms of MRS, suggesting different host immune responses.

Melkersson‐Rosenthal Syndrome

A 13 year‐old boy presented with a six‐month history of severe lip swelling. His past medical history was significant for eczema, multiple episodes of urticaria, and two episodes of anaphylaxis. Physical exam revealed severe cheilitis and labial angioedema. The cranial nerves were intact, and there was no evidence of a fissured tongue. A lip biopsy showed noncaseating granulomas throughout the dermis, with extension into the underlying skeletal muscle. Other features included dilated lymphatic channels, some closely approximating the granulomas, and a mild perivascular lymphoplasmacytic infiltrate. The epidermis was acanthotic with parakeratosis and focal acantholysis. Methenamine silver and acid‐fast stains were negative. A laboratory work‐up revealed an increased total eosinophil count, an increased serum IgE level, and a low complement C1q level. All other complement levels were normal. The patient also had an unremarkable chest x‐ray and a normal angiotensin converting enzyme level. This case represents the monosymptomatic form of Melkersson‐Rosenthal syndrome (MRS), also known as cheilitis granulomatosa Meischer. MRS is classically known as a triad of granulomatous cheilitis, facial nerve palsy, and fissured tongue. The onset of granulomatous cheilitis typically precedes the other symptoms, and when present alone, it is known as the monosymptomatic form of MRS.