Thymoma may explain the confusion: a case report

Background The association of inflammatory myopathy and myasthenia gravis is a rarely described entity whose clinical presentation has always been intriguing because of the great clinical similarity between these two pathologies. The presence of a thymic pathology often explains this combination, whose mechanisms are very complex. Case presentation A 56-year-old woman of North African origin, was hospitalized to explore the Raynaud phenomenon associated with proximal muscle weakness, pain, and arthralgia. There was no rash, and neuromuscular examination had revealed proximal tetraparesis and mild neck weakness. Tendon reflexes were normal. There was no abnormal nail fold capillaroscopy. A significant titer of muscle enzymes had been shown on blood tests, and autoimmune screening for myositis-specific and myositis-associated autoantibodies was negative. Electromyography had shown a myopathic pattern, and muscle biopsy confirmed an inflammatory myopathy. Although steroids were introduced, the clinical course was unsatisfactory; ophthalmic and bulbar symptomatology appeared. The association of myasthenia gravis was confirmed by an elevated level of serum acetylcholine receptor. A chest computed tomography scan had identified a thymoma. Treated with prednisone, pyridostigmine, and thymectomy, the patient’s clinical and biological evolution was favorable. Conclusion This case illustrates an exceptional association of two entities and the difficulty encountered during their diagnosis and treatment. The management of these two diseases is different, so it is essential to recognize this concomitant presentation.

Clinical and serological characteristics of systemic sclerosis: Experience of a tertiary care center in Pakistan

Objectives: This study aims to evaluate the clinical and serological characteristics of systemic sclerosis (SSc) in Pakistani population. Patients and methods: This prospective, cross-sectional study included a total of 38 patients (6 males, 32 females; mean age: 34.5±1.5 years; range, 16 to 60 years) with SSc who were admitted to our rheumatology clinic between November 2019 and January 2020. We evaluated the clinical, serological, and radiological features of SSc patients. Results: Thirty-four (89.5%) patients developed Raynaud phenomenon at the time of disease onset, while sclerodactyly was found in 34 (89.5%), digital ulcers in 25 (65.8%), and tendon friction rub in 12 (31.6%) patients. Interstitial lung disease was present in 30 (78.9%) patients with a higher prevalence in diffuse scleroderma (100%) than in limited scleroderma (70%) (p=0.01). Pulmonary hypertension was present in 18 patients with a significantly higher prevalence in diffuse disease (57.1%) than limited disease (11.8%) (p<0.01). Thirty (78.9%) patients had impaired pulmonary function tests. Fibromyalgia was present in seven (18.4%) patients, and depression was present in 10 (26.3%) patients. Antinuclear antibody (ANA) was positive in 30 (78.9%) patients. Anti-Scl-70 antibodies were present in 24 (63.2%) patients with a significant association with diffuse disease (85% vs. 35.3%, respectively; p<0.01). The anti-centromere antibodies (ACA) were present in 20 (52.6%) patients with a significantly higher rate in limited disease (94.2% vs. 19.0%, respectively; p<0.01). Conclusion: Scleroderma has a female preponderance. Raynaud phenomenon is the most initial clinical feature followed by other manifestations of a variable course and disease severity.

Osteonecrosis of carpal bones in systemic sclerosis

Background. Systemic sclerosis (SSc) is a rare chronic disease, with unknown aetiology and complex pathogenesis. The hand is often implied in the main clinical findings, being affected primarily by the vascular component (Raynaud phenomenon, digital ulcers). One of the possible complications of the hand vasculopathy is osteonecrosis (ON) of the carpal bones. In these cases, the lunate is the most frequently affected, followed by the scaphoid. In the ON process, not only the vascular supply is important, but the nearby mechanical factors and anatomic variants of the wrist. Our objective was to reveal the most important aspects regarding the ON of the carpal bones in patients with SSc. Methods. A systematic literature review was performed through July 31, 2021 on Pubmed and Cochrane databases. The eligible articles were read in full text and were included in this paper, in the absence of exclusion criteria and after consensus between two reviewers. Results. Ten articles met the inclusion criteria, their main results being described in this review. In all studies, ON of the lunate and the scaphoid is associated with advanced SSc and severe Raynaud phenomenon. Conclusions. In conclusion, carpal ON is a rare complication of SSc, especially of the diffuse type. There is limited data on this condition, its prevalence being difficult to estimate due to the lack of symptoms.

The Evaluation of Flow Mediated Dilatation and Blood Parameters in Raynaud Phenomenon

Introduction: Raynaud phenomenon (RP) is a multifactorial disorder. If any underlying disease cannot be detected responsible for RP then it considered as primary RP (pRP). We aimed to investigate the differences between laboratory markers and impaired endothelial function in pRP. Material and Methods: Forty-two pRP patients included as study and control groups were created from 30 healthy individuals. The endothelial function was evaluated with flow-mediated dilatation (FMD) of the brachial artery. The blood samples were obtained both groups and white blood cell [WBC], hemoglobin, platelet, mean platelet volume [MPV], creatinine, alanine aminotransferase [ALT], aspartate aminotransferase[AST], D-dimer, fibrinogen, albumin, fibrinogen to albumin ratio [FAR], Neutrophil to Lymphocyte ratio [NLR], D-dimer to albumin ratio [DDAR] and monocyte chemo-attractant protein-1 [MCP-1]. Obtained blood parameters and FMD values were compared between groups. Results: The groups were found as similar in regards to age, gender, smoking history (p<0.05). There was no difference between the two groups in regards to hemoglobin, platelet, MPV, creatinine, ALT, D-dimer, albumin, FAR, NLR, DDAR levels (p<0.05). AST levels were slightly higher in pRP group (p=0.027). Markedly increased WBC, fibrinogen, MPV and MCP-1 values were detected in pRP group (p=0.000). Additionally, higher abnormal FMD responses were detected in pRP group (p=0.000). There was a direct correlation between abnormal FMD response and serum MCP-1 values in patients with pRP (R: 0.308, R2: 0.095, p: 0.044). Conclusion: It seems to be that MCP-1 levels are higher in patients with pRP and increased values of MCP-1 levels seem to be related to impaired endothelial functions