SESSION TYPE: Pleural Cases IIPRESENTED ON: Wednesday, October 24, 2012 at 11:15 AM - 12:30 PM

INTRODUCTION:

The diagnosis and management of an inflammatory multisystem vasculitic disorder can be challenging in a critically ill patient.

CASE PRESENTATION:

A 23-year-old male presented with fevers, night sweats, a left neck mass and face and upper extremity swelling. He had no prior history of oral or genital ulcers. CT-thorax revealed bilateral pleural effusions, mediastinal and cervical LAP, with right brachiocephalic and subclavian vein occlusion and a clot in the SVC. Bone marrow biopsy and peripheral smears were nonrevealing. Pleural fluid analysis suggested chylothoraces. Despite extensive collaterals, mediastinoscopy was attempted but abandoned due to extreme mediastinal fibrotic changes. Right VATS for mediastinal biopsies revealed significant fibrosis. Postoperatively steroids were used to ameliorate airway edema and facilitate extubation. Left supraclavicular LN and EBUS guided mediastinal LN biopsies were also negative for malignancy. Repeat CT revealed a new left ventricular free wall cardiac mass adjacent to the atrioventricular groove. Cardiac MRI showed a well-defined 4.5cm spherical mass in the AV groove consistent with a thrombosed coronary artery pseudo-aneurysm. Shortly after weaning steroids, he became febrile with new oral aphthous ulcers as well as anterior chest wall ulcers. Broad spectrum antibiotics were initiated. Pleural fluid, oral ulcer swab and blood cultures were negative. Oral ulcer biopsy revealed superficial and perivascular inflammation. His clinical presentation was consistent with Behcet's disease(BD), with the presentation of ulcers, which were masked initially by the steroids. He was started on cyclophosphamide with steroids. He subsequently underwent ligation of the thoracic duct as well as thoracic duct and tributary platinum coil embolization. Currently, his effusions remain small, he no longer has signs of SVC syndrome, and the cardiac mass has reduced in size as he continues to be on immunosuppressive agents.

DISCUSSION:

Behcet's disease is a systemic inflammatory vasculitis of unknown etiology, characterized by relapsing episodes of orogenital ulcers, skin lesions, ocular lesions and rarely vascular, gastrointestinal and neurological involvement. Pulmonary involvement is uncommon (1-7.7% cases) and presents as thromboangiitis, pulmonary artery aneurysms, recurrent pneumonias and BOOP. Chylothorax as an initial manifestation of BD is extremely rare and is hypothesized to be secondary to large vein occlusion, such as SVC thrombosis causing lymphatic obstruction. The spectrum of cardiac diseases may include pericarditis, coronary artery stenosis or aneurysm, myocarditis, cardiomyopathy, valvular pathology and aneurysm of aorta and its branches. There are no laboratory findings specific for BD.

CONCLUSIONS:

The diverse clinical manifestations of BD can be challenging especially with an atypical presentation.1) Mendes D, et al. Behcet's disease--a contemporary review. J Autoimmun.2009;32(3-4):178-88.DISCLOSURE: The following authors have nothing to disclose: Pankaj Mehta, Heather Smith, Fatme Allam, Leslie Kohman, Darren Tabechian, Christian Peyre, David Sugarbaker, Marcelo DaSilva, Barbara RobinsonNo Product/Research Disclosure InformationSUNY Upstate Medical University, Liverpool, NY.

As it is known, many diseases of gastric system cause changes in the oral cavity, with either pathological findings or subjective impressions. When these changes are of pathological nature, the most common finding is recurrent aphthous stomatitis on the tongue, which emerges as a consequence of gastric diseases. Recurrent aphthous stomatitis is a disorder characterised by recurrent ulcerations limited to the oral mucosa, without any other signs of diseases. According to their clinical form, they may be big, small and hyperform. Etiology of recurrent aphthae is genetic predisposition, systemic diseases (virus, certain vitamin deficiency, gastric disorders), and autoimmune disorder and psychogenesis. The symptoms include a prodromal burning sensation and ulceration emerging within 24-48 hours as round symmetrical lesions inflicting the entire oral cavity except for palate and gingiva. Polyps ventriculi are tumours on the gastric mucosa. They can lie on a broad background or hang on the stem, and may be both individual and clustered at the same time. They are more common with elderly male population. They may have a malignant alteration. According to WHO, they have been classified as hyperplastic and neoplastic polyps. Etiology of polyps is atrophic gastritis or H. pylori.

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory disorder caused by mutations in the TNFRSF1A gene encoding the 55-kDa receptor for tumor necrosis factor (TNF)-α. It is characterized by recurrent prolonged episodes of fever accompanied by abdominal pain, pleuritis, migratory skin rashes, fasciitis, headache, conjunctivitis, and periorbital edema. We report two children, one with a severe mutation in the TNFRSF1A gene causing the typical phenotype. The second patient had a homozygous R92Q-type mutation and displayed a periodic fever with aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome-like phenotype. In the eastern Mediterranean region, TRAPS is probably underdiagnosed because of the overwhelming frequency of familial Mediterranean fever (FMF). However, TRAPS should be sought for in patients with atypical symptoms for FMF.

This study aims to evaluate the serum levels of hemoglobin, vitamin B12 and folic acid in patients with recurrent minor aphthous stomatitis.Between June 2010 and January 2012, a total of 112 patients including 57 with recurrent aphthous stomatitis (study group; 30 males 27 females; mean age 36.7±13.9 years; range 13 to 74 years) and 45 with chronic tinnitus patients without recurrent aphthous stomatitis (control group; 18 males 27 females; mean age 39.7±15.1 years; range 20 to 80 years) who were admitted to our clinic were included in this study. The serum hemoglobin, vitamin B12 and folic acid levels of the patients were measured and statistically compared.There was no significant difference in serum levels of hemoglobin and folic acid between the groups. Serum levels of vitamin B12 were significantly lower in the study group, compared to the control group (p<0.05). Serum levels of hemoglobin and folic acid were significantly lower in women compared to men in both groups (p<0.05).Vitamin B12 deficiency, but not lower levels of folic acid and hemoglobin, may play a role in the underlying etiology of aphthous stomatitis. Vitamin B12 supplements may be added to the treatment of recurrent aphthous stomatitis.

OBJECTIVES:

Recurrent aphthous stomatitis (RAS) is a common ulcerative disease of the oral mucosa. Methylenetetrahydrofolate reductase (MTHFR) gene variants are associated with thrombophilia and vasculopathy that may result in oral ulceration. Oral ulcers are also the most common feature of Behcet's disease (BD). Association of MTHFR gene C677T mutation with BD has been reported in different populations. The aim of the present study was to investigate the possible association between MTHFR gene C677T mutation and RAS and evaluate if there was an association with clinical features in a relatively large cohort of Turkish patients.

MATERIALS AND METHODS:

The study included 188 patients affected by RAS and 200 healthy controls. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay for the MTHFR gene C677T mutation.

RESULTS:

The genotype and allele frequencies of C677T mutation showed statistically significant differences between RAS patients and controls (p = 0.002 and p = 0.0004, respectively). After stratifying RAS patients according to clinical characteristics of oral ulcers, a significant association was observed between C677T mutation and number of oral ulcers of RAS patients (p = 0.006).

CONCLUSIONS:

As a result, a high association between MTHFR gene C677T mutation and RAS was observed in the present study. Also number of oral ulcers was found to be associated with MTHFR C677T mutation in RAS patients.

CLINICAL RELEVANCE:

If our observation can be substantiated with further studies, evaluation for MTHFR mutations and perhaps folate supplementation may become necessary in selected patients.

PROJECT: Recurrent aphthous stomatitis (RAS) is a common oral mucosal disorder characterized by recurrent, painful oral aphthae, and oxidative stress presumably contributes to its pathogenesis. The aim of this study is to scrutinize the relationship between oxidative stress and serum trace elements (copper, Cu; zinc, Zn; selenium, Se), and to evaluate the ratios of Cu/Zn and Cu/Se in this disorder.

PROCEDURE:

Patients with RAS (n=33) and age- and sex-matched healthy control subjects (n=30) were enrolled in this study. Malondialdehyde (MDA) concentrations in plasma and the activities of superoxide dismutase (SOD1; CuZnSOD), glutathione peroxidase (GPx) and catalase (CAT) in erythrocyte were determined as spectrophotometric. Also, the levels of Se, Zn and Cu in serum were determined on flame and furnace atomic absorption spectrophotometer using Zeeman background correction.

RESULTS AND CONCLUSIONS:

Oxidative stress was confirmed by the significant elevation in plasma MDA, and by the significant decrease in CAT, SOD1, and GPx (p<0.05). When compared to controls, Zn and Se levels were significantly lower in patients, whereas Cu levels was higher in RAS patients than those in controls (p<0.05). In addition, the correlation results of this study were firstly shown that there were significant and positive correlations between Se-CAT, Se-GPx, and Cu-MDA parameters, but negative correlations between Se-Cu, Se-MDA, Cu-CAT, Cu-SOD1 and Cu-GPx parameters in RAS patients. Furthermore, the ratios of Cu/Zn and Cu/Se were significantly higher in the patients than the control subjects (p<0.05). Our results indicated that lipid peroxidation associated with the imbalance of the trace elements seems to play a crucial role in the pathogenesis of RAS. Furthermore, the serum Cu/Zn and Cu/Se ratios may be used as biochemical markers in these patients.

Recurrent aphthous stomatitis (RAS) has a multifactorial etiopathogenesis, an interaction between predisposing factors and/or systemic conditions and immunological components in genetically predisposed subjects. The Mediterranean fever (MEFV) gene has already been identified as being responsible for familial Mediterranean fever. Because the association between MEFV gene mutations and Behçet's disease has been reported before in several studies, we considered that the role of MEFV gene mutations should be studied in patients with RAS, because of the clinical similarities of both diseases. The aim of this study was to explore the frequency and clinical significance of MEFV gene mutations in a cohort of Turkish patients with RAS. The study population comprised 100 unrelated patients with a clinical diagnosis of RAS and 156 healthy controls. Genomic DNA was isolated and genotyped using polymerase chain reaction and restriction fragment length polymorphism for the four MEFV gene mutations (M694V, M680I, V726A and E148Q). There were statistically significant differences of the MEFV gene mutation carrier rates and allele frequencies between RAS patients and healthy controls (P = 0.042, odds ratio [OR] = 1.9, 95% confidence interval [CI] = 1.01-3.41; and P = 0.039, OR = 1.8, 95% CI = 1.02-3.14, respectively). Even if it is not statistically significant, the E148Q allele frequency was higher in patients with RAS than the control group. A statistically significant increased prevalence of MEFV variants in RAS patients was found. This is the first study to report that missense mutations of MEFV is associated with RAS in the Turkish population.

The paper describes a clinical case of celiac disease with grade 3 malabsorption, which is associated with recurrent aphthous stomatitis and schizophrenia. On readmission after 8 months of strict adherence to his gluten-free diet, the patient was observed to be in clinical remission and to have normalized laboratory indices and immunological tests. The signs of recurrent stomatitis disappeared. However, the symptoms of the mental disease remained.

OBJECTIVES:

To compare immediate pain relief, healing time between minor recurrent aphthous ulcers treated with a single session of carbon dioxide (CO2) laser and a placebo.

STUDY DESIGN:

A prospective clinical study was performed on 25 patients with minor recurrent aphthous stomatitis. Pretreatment pain levels were recorded using a numerical rating scale. Ulcers were randomized to either receive treatment or placebo. Pain levels were assessed immediately after treatment and after 24 h. Healing was assessed on days 3 and 4, and once every 2 days thereafter for 2 weeks.

RESULTS:

Mean pain scores in the laser group were significantly reduced immediately after treatment (0.68 ± 0.6) compared with pretreatment (8.48 ± 0.71; P < .001). In contrast, the placebo group showed little difference in pain scores between pretreatment (8.08 ± 0.70) and immediately after treatment (7.96 ± 0.84). In the laser group, significant improvements in healing times were observed (4.08 ± 0.81 vs. 7.84 ± 0.90 days; P < .001).

CONCLUSION:

CO2 laser therapy in recurrent aphthous stomatitis (RAS) provides immediate pain relief sustained over 24 h, along with accelerated healing time.