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Rothmund-Thomson syndrome (RTS), also known as congenital poikiloderma, is a genodermatosis that appears in infancy and is characterized by poikilodermatous changes in the skin. It is a very rare and complex genetic disorder that can present with a wide range of symptoms and affect multiple systems in the body. The syndrome is inherited in an autosomal recessive manner. A 21-year-old female patient presented to our rheumatology outpatient clinic with swelling of the hands, sclerodactyly, and stiffness of the fingers with preliminary diagnosis of systemic sclerosis. She has had deformities in her feet and hands since the age of one year. Physical examination revealed poikiloderma and extremity deformities. She also had neutropenia in her bloodstream. She was diagnosed with Rothmund Thomson syndrome after genetic test results, prescribed colchicine and followed up regularly every three months. After two years of follow-up, she was diagnosed with ovarian cancer.

Aim: The aim of this study is to shed light on sarcoidosis from a rheumatology perspective and to provide a better understanding of sarcoidosis from the perspective of a rheumatologist. Materials and Methods: The files of patients who applied to the rheumatology outpatient clinic with joint complaints between 2020 and 2023 and were diagnosed with sarcoidosis during follow-up or who were already diagnosed with sarcoidosis and had joint complaints during the course of the disease, were retrospectively examined. Results: Joint involvement was observed in all patients (100%). When patients were grouped according to the joints involved, it was found that 17 patients had ankle involvement (60.7%), six patients had metacarpophalangeal joint involvement (21.4%), four (14.2%) patients had wrist involvement, and three (10.7%) patients had knee involvement. Shoulder involvement was detected in one (3.5%) patient. Conclusion: Although sarcoidosis seems to primarily concern chest diseases, from the perspective of rheumatology, it is a very confusing and surprising disease with its heterogeneous nature and joint involvement. It is one of the diseases that should be kept in mind and further studied in rheumatology practice.

Gitelman syndrome (GS) is an autosomal recessive familial disorder characterized by hypokalemia and metabolic alkalosis. Rhabdomyolysis due to hypokalemia is extremely rare. The presentation of GS leading to rhabdomyolysis is extremely rare as well. This case report describes a situation in which GS mimicked inflammatory myositis. A 30-year-old woman presented to the rheumatology outpatient clinic with an inability to walk and severe muscle weakness. Her creatine kinase level was elevated at 9900 U/L and her potassium level was low at 2.6 mmol/L. A myositis panel was ordered on suspicion of inflammatory myositis, and the results showed a positive anti-Jo-1. A muscle biopsy, performed with a presumptive diagnosis of inflammatory myositis, yielded pathology results inconsistent with myositis. Despite persistent low potassium levels during follow-up, potassium replacement was administered. The patient’s clinical condition improved significantly with potassium replacement, leading to a reduction in muscle weakness.

World Health Organization declared coronavirus disease-19 (COVID-19) as pandemic since 11 March 2020. Herein, new human coronavirus, SARS-CoV2 is the etiologic agent of the disease. Also, it has been a global health problem since it was detected in Chinese province of Wuhan at December 2019. COVID-19 has several different clinical variations from mild disease to acute respiratory distress syndrome. For the treatment of the disease, several remedies have been administered. Even though, anecdotal data showed somewhat effectiveness of those drugs for the treatment of the disease, there has been no accurate scientific knowledge proofing these. Therefore, main purpose of this review was discussing how the physicians arrange the therapies of the rheumatologic diseases during COVID-19, especially while patients are under immunosuppressive drugs. Also, we summarized the current data about the effectiveness of immunosuppressive drugs on COVID-19.

INTRODUCTION: Uveitis is inflammation of layers of eye. The most common causes of uveititis are rheumatologic and infectious disease. Coeliac disease (CD) is a chronic inflammatory disease which is developed immunogically against gliadine. Herein, we aimed to investigate prevalence of CD among patients with idiopathic uveitis. METHODS: In this retrospective study, cohort was formed from subjects consulted by ophthalmology department for the investigation of uveitis of unknown cause. All patients were investigated for Behcet's disease, sarcoidosis and other rheumatic diseases by history and physical examination. Those patients who had no signs or symptoms directing a specific disease were scrutinized by laboratory examinations. Control group constituted Behcet's uveitis patients. All subjects were screened for anti-gliadin IgA and IgG and anti-transglutaminase antibodies. Duodenal biopsies were obtained whenever indicated. RESULTS: In this study, 45 idiopathic uveititis patients (median age 43,9+13,0) and 15 Behcet uveititis patients (median age 36,9+10,8) were included. Antibody positivity was detected in 7 of 45 patients in idiopathic uveititis group and in one of 15 patients in Behcet uveititis group. Antiglutaminase antibodies were detected in two patients of idiopathic group and none of Behcet uveititis group. One biopsy of idiopathic uveititis patient revealed CD findings. Interestingly, uveititis regressed with diet and former recurrent uveititis attacks entered remission in this patient. DISCUSSION AND CONCLUSION: CD, although not frequent, could be an underlying factor for uveitis and should be considered, especially if there are other clinical clues that suggest CD. However, routine screening for CD in patients with uveitis is not recommended.

Intracardiac thrombus, pulmonary artery aneurysms, deep vein thrombosis, and pulmonary thromboembolism are rarely seen symptoms of Behcet’s disease. A 20-year-old female patient was admitted for complaints of cough, fever, palpitations, and chest pain. On the dynamic thorax computed tomograms (CT) obtained because of significantly enlarged hilar structures seen on chest radiograms, aneurysmal dilatation of the pulmonary artery segments bilaterally, chronic thrombus with collapse, and consolidation substances compatible with pulmonary embolism involving both lower lobes have been observed. It is learned that, four years ago, the patient had been diagnosed with Behcet’s disease and received colchicine treatment but not regularly. The patient was hospitalized. On the transthoracic echocardiogram, a thrombosis with a dimension of 4.2 × 1.6 cm was recognized in the right ventricle. On abdomen CT, aneurysmal iliac veins and deep vein thrombus on Doppler ultrasonograms were diagnosed. At the controls after three months of immunosuppressive and anticoagulant therapies, some clinical and radiological improvements were recognized. The patient suspended the treatment for a month and the thrombus recurred. We present our case in order to show the effectiveness of immunosuppressive and anticoagulant therapies and rarely seen pulmonary thromboembolism in recurrent Behcet’s disease.

Abstract In a previous study, it has been shown that the population of Th17 lymphocytes was increased in patients with FMF. IL-21 and IL-23 play significant roles in the production and differentiation of Th17 cells. In this study, we aimed to evaluate serum levels of IL-21 and IL-23 in FMF patients both at diagnosis and after treatment, and to compare these levels with those of healthy controls. Twenty-seven newly diagnosed patients with FMF in attack-free periods and twenty-seven healthy volunteers enrolled in the study. The groups were comparable with respect to age and gender. IL-21 and IL-23 levels in serum samples from patients at the time of diagnosis, in remission after treatment, and from the control groups were analysed using the ELISA method. There was no significant difference between the cytokine levels of the patient group at the time of diagnosis and the cytokine levels of the control group (for IL-21, p: 0.28 and for IL-23, p: 0.56). Similarly, there was no significant difference between the patients’ cytokine levels at the time of diagnosis and after treatment (for IL-21, p: 0.99 and for IL-23, p: 0.08). Interleukin levels at the time of diagnosis did not differ among patient groups based on the presence of clinical findings or the M694V genotype. Our results suggest that IL-21 and IL-23 do not play a role in the pathogenesis of the disease. However, while interpreting these findings, it should be considered that patients with active episodes were excluded and cytokine levels were not measured in tissue samples.

BackgroundThe course of novel coronavirus disease 2019 (COVID-19) has been of special concern in patients with inflammatory rheumatic diseases (IRDs) due to the immune dysregulation that may be associated with these diseases and the medications used for IRDs, that may affect innate immune responses.ObjectiveIn this cohort study, we aimed to report the disease characteristics and variables associated with COVID-19 outcome among Turkish patients with IRDs.MethodsBetween April and June, 2020, 167 adult IRD patients with COVID-19 were registered from 31 centers in 14 cities in Turkey. Disease outcome was classified in 4 categories; (i) outpatient management, (ii) hospitalization without oxygen requirement, (iii) hospitalization with oxygen requirement, and (iv) intensive care unit (ICU) admission or death. Multivariable ordinal logistic regression analysis was conducted to determine variables associated with a worse outcome.Results165 patients (mean age: 50 ± 15.6 years, 58.2% female) were included. Twenty-four patients (14.5%) recovered under outpatient management, 141 (85.5%) were hospitalized, 49 (30%) required inpatient oxygen support, 22 (13%) were treated in the ICU (17 received invasive mechanic ventilation) and 16 (10%) died. Glucocorticoid use (OR: 4.53, 95%CI 1.65-12.76), chronic kidney disease (OR: 12.8, 95%CI 2.25-103.5), pulmonary disease (OR: 2.66, 95%CI 1.08-6.61) and obesity (OR: 3.7, 95%CI 1.01-13.87) were associated with a worse outcome. Biologic disease-modifying antirheumatic drugs (DMARDs) do not seem to affect COVID-19 outcome while conventional synthetic DMARDs may have a protective effect (OR: 0.36, 95%CI 0.17-0.75). Estimates for the associations between IRD diagnoses and outcome were inconclusive.ConclusionsAmong IRD patients with COVID-19, comorbidities and glucocorticoid use were associated with a worse outcome, while biologic DMARDs do not seem to be associated with a worse outcome.

Madelung's disease is a rare acquired disorder of fat metabolism characterized by multiple symmetric lipomas with typical distribution mainly around the upper trunk, neck, and shoulders. The condition is strongly associated with chronic alcohol use and has various systemic manifestations like polyneuropathy, muscle weakness, and small bone fractures. Herein, we report a 56-year-old male patient with Madelung's disease and multiple fractures and discuss possible underlying factors leading to multiple fractures.