Overlap syndrome is a rare condition involving the coexistence of at least two distinct autoimmune diseases, such as systemic lupus erythematosus and systemic sclerosis. This condition has limited studies on epidemiology probably because it is often under-recognized. We present a 22-year-old Filipino female with a 10-month history of hyperpigmented patches on the malar surface and extremities, with associated photosensitivity, fatigue, pallor, arthralgia, and oral ulcers, and positive antinuclear antibody titer. She was treated with oral Prednisone in tapering doses, leading to clinical improvement. Eight months later, there was a recurrence of hyperpigmented patches on the face and extremities with skin tightening and diffuse hair loss, development of shiny skin with facial fold loss, a beak-like nasal appearance, and episodes of dyspnea and malaise. Consistent with scleroderma, the patient was started on mycophenolate mofetil (MMF) 500 mg daily, with close monitoring for disease progression and systemic involvement. Overlap syndrome remains under-recognized due to its variable presentation and rarity. Treatment is individualized based on the specific connective tissue diseases involved and the patient’s symptoms. Multidisciplinary care is crucial for timely management and to adjust treatment as needed, given the potential for life-threatening complications involving cutaneous and internal organs.

Introduction: Systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) are complex autoimmune conditions that can co-exist with 6.8% prevalence based on cohort studies. This case report details the clinical journey of a 45-year-old female with an SLE-SSc overlap syndrome particularly presenting with autoamputation of digits, which is a rare and debilitating complication of SSc, with a scarcity of published reports as of writing. Case Description: This patient was diagnosed with SLE nearly a decade ago, presenting with alopecia, joint pains, malar rash, and a positive antinuclear antibody test. Initial treatment with prednisone and hydroxychloroquine showed improvement, but hydroxychloroquine was discontinued due to adverse effects. Subsequently, she developed skin tightness, deformities in her digits, and progressive vision loss, consistent with SSc, but she did not seek timely medical attention. During the COVID-19 pandemic, her symptoms worsened, leading to hand weakness, digit shortening, and loss of fingernails. She was eventually diagnosed with SSc by a rheumatologist. The patient commenced treatment with prednisone (10 mg daily) and mycophenolate mofetil (500 mg thrice daily). Six months into treatment, she showed significant improvement in skin pliability and hand functionality, with regrowth of fingernails. The patient demonstrated excellent adherence to the treatment regimen and regular follow-up visits, resulting in continued improvement in her condition. Conclusion SLE-SSc overlap syndromes pose diagnostic challenges due to shared clinical features. This case underscores the need for early recognition and tailored treatment strategies, as evidenced by the patient’s positive response to combined immunosuppressive therapy. Addressing these complexities requires ongoing research and interdisciplinary collaboration to optimize patient outcomes.
Human ; Female ; Middle Aged: 45-64 Yrs Old ; Scleroderma, Systemic ; Lupus Erythematosus, Systemic

Diffuse cutaneous Systemic Sclerosis (dsSSc) is an uncommon subtype of Scleroderma or Systemic Sclerosis (SSc), a multisystemic autoimmune disease. Philippine reports remain limited, hence there is a need to review this condition to accurately diagnose and manage Filipino patients. We present the case of a 52-year old Filipino female with a one-year history of pruritus and generalized skin thickening presenting as multiple, well-defined, hyperpigmented patches and plaques. She also presented with systemic symptoms like fever, dysphagia, and finger tenderness, swelling, numbness, and color changes upon exposure to extreme temperatures known as Raynaud’s Phenomenon. Clinical findings, alongside dermoscopic, histopathologic, nail capillaroscopy, and diagnostic data, confirmed dsSSc diagnosis with complications like Barrett’s Esophagus and Interstitial Lung Disease. Treatment options include corticosteroids, emollients, immunosuppressants, biologics, and phototherapy. Multidisciplinary teams are essential to address systemic complications.

Systemic sclerosis is a disease characterized by skin and internal organ fibrosis, lacking specific therapeutic drugs and having a poor prognosis. Early diagnosis and intervention of the disease is of significant value in improving patient prognosis. This article provides a systematic review of the early diagnosis and treatment of systemic sclerosis, including early symptom recognition, laboratory testing, and drug intervention. It will provide a reference for the prevention of this disease.
Humans ; Scleroderma, Systemic/prevention & control*

Systemic sclerosis is a disease characterized by skin and internal organ fibrosis, lacking specific therapeutic drugs and having a poor prognosis. Early diagnosis and intervention of the disease is of significant value in improving patient prognosis. This article provides a systematic review of the early diagnosis and treatment of systemic sclerosis, including early symptom recognition, laboratory testing, and drug intervention. It will provide a reference for the prevention of this disease.
Humans ; Scleroderma, Systemic/prevention & control*

OBJECTIVE: To detect the expression of plasma exosomal microRNA (miRNA) in systemic sclerosis (SSc), and to investigate its clinical significance. METHODS: A total of 20 patients who were initially diagnosed with SSc and did not receive medication in Department of Rheumatology and Immunology of Meizhou People' s Hospital from January 2020 to January 2022 were recruited, as well as 15 healthy individuals whose gender and age matched with those of the SSc patients. Plasma exosomes were isolated using ultracentrifugation method. The expression levels of exosomal miR-34-5p, miR-92-3p and miR-142-3p were detected by quantative real-time polymerase chain reaction (qRT-PCR). Correlations between the expression levels of exosomal miRNAs and clinical characteristic were analyzed by Spearman's rank correlation coefficient test. RESULTS: The mean age of 20 patients with SSc was (52.6±12.6) years, including 7 males and 13 females. Among the 20 SSc patients, 13 cases were diagnosed as limited cutaneous systemic sclerosis (lcSSc) and 7 cases were diagnosed as diffuse cutaneous systemic sclerosis (dcSSc) according to the extent of skin involvement. According to the findings of high resolution chest CT, 7 of 20 SSc patients were diagnosed with interstitial lung disease (ILD) and 13 SSc patients were diagnosed with non-ILD. The expression levels of exosomal miR-34-5p, miR-92-3p and miR-142-3p were significantly elevated in the SSc patients compared with those in the healthy controls group (P=0.003, P=0.000 1, and P=0.016, respectively). Compared with the SSc patients without ILD, the expression levels of miR-34-5p and miR-142-3p were significantly lower in the SSc patients with ILD (P=0.037 and P=0.015, respectively). The expression levels of exosomal miR-34-5p and miR-142-3p showed negative correlation with ILD (r=-0.48, P=0.031 and r=-0.55, P=0.011, respectively), and arthritis (r=-0.46, P=0.040 and r=-0.48, P=0.032, respectively). The expression levels of exosomal miR-142-3p showed a negative correlation with erythrocyte sedimentation rate (ESR) (r=-0.55, P=0.012). CONCLUSION Plasma exosomal miR-34-5p, miR-92-3p and miR-142-3p were dysregulated in SSc. The dyregulation of exosomal miR-34-5p and miR-142-3p showed correlation with SSc associated ILD (SSc-ILD).
Male ; Female ; Humans ; Young Adult ; Adult ; Clinical Relevance ; MicroRNAs/genetics* ; Scleroderma, Systemic/genetics* ; Lung Diseases, Interstitial

Antibodies, Antinuclear ; Autoantibodies ; China ; Cohort Studies ; Humans ; Scleroderma, Systemic

OBJECTIVE: To explore the significance of lymphocytes in systemic sclerosis (SSc), by detecting the levels of T lymphocytes, B lymphocytes and natural killer (NK) cells, and analyzing the correlation between the lymphocytes and clinical laboratory indexes. METHODS: The numbers and proportion of T, CD4⁺T, CD8⁺T, B, and NK cells were detected by flow cytometry in peripheral blood of 32 SSc patients who had taken immunosuppressive drugs and 30 healthy controls (HC). The comparison of the lymphocyte subsets in SSc with them in the HC groups, and the correlation between the lymphocytes and other clinical and laboratory indicators were analyzed by the relevant statistical analysis. RESULTS: Compared with the HC group, the numbers of T, CD4⁺T, CD8⁺T, and NK cells in peripheral blood of SSc group, who had taken immunosuppressive drugs, were significantly decreased (P < 0.05). More-over, the proportion of NK cells in peripheral blood of the SSc group was also significantly lower than that in the HC group (P=0.004). In addition, all the lymphocyte subsets were decreased in peripheral blood of more than 65% of the SSc patients who had taken immunosuppressive drugs. Compared with CD4⁺T normal group, the positivity of Raynaud's phenomenon, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) was significantly increased in CD4⁺T reduction group, respectively (P＝0.024, P < 0.001, P=0.018). ESR was higher in CD8⁺T reduction group than CD8⁺T normal group (P＝0.022). The prevalence of fingertip ulcer was significantly increased in B cell decrease group (P=0.019). Compared with NK cell normal group, the prevalence of fingertip ulcer was significantly increased in NK cell lower group (P=0.033), IgM was remarkablely decreased yet (P=0.049). The correlation analysis showed that ESR was negatively correlated with the counts of T lymphocytes (r＝－0.455, P＝0.009), CD4⁺T lymphocytes (r＝－0.416, P＝0.018), CD8⁺T lymphocytes (r＝－0.430, P=0.014), B cells (r＝－0.366, P＝0.039). CONCLUSION The number of CD4⁺T, CD8⁺T, B, and NK cells significantly decreased in peripheral blood of SSc patients who had used immunosuppressive drugs, some lymphocyte subsets might be related with Raynaud's phenomenon and fingertip ulcer, and reflected the disease activity by negatively correlated with ESR and CRP; the numbers of lymphocyte subsets in peripheral blood should be detected regularly in SSc patients who had taken immunosuppressive drugs.
B-Lymphocytes ; Flow Cytometry ; Humans ; Killer Cells, Natural ; Lymphocyte Subsets ; Scleroderma, Systemic ; T-Lymphocyte Subsets ; T-Lymphocytes

Idiopathic pulmonary fibrosis (IPF) is a condition that has been described as alveolar collapse and thickening, which correlate with dysregulated surfactant production and injury to type 2 alveolar cells. As resolution of chest computed tomography has improved, especially with the development of high-resolution computed tomography (HRCT), the diagnostic measures adopted for pulmonary fibrosis has gradually shifted from biopsy to HRCT. This shift towards HRCT has aided in diagnostic evaluation and detection of the therapeutic and adverse effects of drugs for pulmonary fibrosis. Further, after the endpoint was changed to forced vital capacity, significant improvements are being observed in clinical trial outcomes. Currently active clinical trials are replacing lung biopsy with HRCT. In 2014, pirfenidone and nintedanib gained approval for tandem use in patients with IPF. These drugs were found to not only reduce the progression of pulmonary fibrosis, but also the acute exacerbation and mortality associated with the condition. These drugs showed consistent benefits regardless of the severity of patients' symptoms. Additionally, both nintedanib and pirfenidone were found to be effective in patients with advanced pulmonary fibrosis that was not classified as IPF. Nintedanib has been shown to reduce forced vital capacity in interstitial lung diseases associated with systemic sclerosis. In the next three to five years, many changes in treatment are expected, not only for IPF, but also for the entire spectrum of pulmonary fibrotic diseases. Pirfenidone and nintedanib are now considered standard treatments for IPF and few other fibrotic lung diseases. Clinicians treating patients with pulmonary fibrosis should keep themselves updated with the results of clinical trials that are currently underway.
Biopsy ; Humans ; Idiopathic Pulmonary Fibrosis ; Lung ; Lung Diseases ; Lung Diseases, Interstitial ; Mortality ; Pulmonary Fibrosis ; Scleroderma, Systemic ; Thorax ; Vital Capacity

OBJECTIVE: To detect the serum level of a novel autoantibody, anti-tubulin-α-1C, in patients with systemic sclerosis (SSc) and to investigate its clinical significance. METHODS: Anti-tubulin-α-1C antibody levels were determined by enzyme-linked immunosorbent assay (ELISA) in 62 patients with SSc, 38 systemic lupus erythematosus (SLE), 24 primary Sjögren's syndrome (pSS) patients, and 30 healthy controls (HCs). Erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), immunoglobulin A(IgA), immunoglobulin M (IgM), immunoglobulin G (IgG), C3, C4, rheumatoid factor (RF), antinuclear antibody(ANA), anti-centromere antibodies(ACA), anticardiolipin (aCL), anti-dsDNA antibody, anti-Sm antibody, anti-RNP antibody, anti-Scl-70 antibody, anti-Ro52 antibody, anti-SSA antibody, anti-SSB antibody, centromere protein A(CENP-A), centromere protein B (CENP-B) were measured by standard laboratory techniques. Raynaud's phenomenon and modified Rodnan skin score(MRSS) were recorded to evaluate the disease status of SSc. Independent sample t test, Chi square test, Mann-Whitney U test, Spearman rank correlation were used for statistical analyses. RESULTS: The serum anti-tubulin-α-1C antibody concentration in SSc group was 81.24±34.38, the serum anti-tubulin-α-1C antibody concentration in SLE group was 87.84±38.52, the serum anti-tubulin-α-1C antibody concentration in pSS group was 59.79±25.24, and the serum anti-tubulin-α-1C antibody concentration in healthy group was 39.37±18.7. Multivariate analysis revealed that anti-tubulin-α-1C antibody levels were significantly increased in the SSc and SLE patients. The expression level of anti-tubulin-α-1C antibody in SSc was higher compared with the pSS group and the health control group (P < 0.01). Further analysis demonstrated that the elevated anti-tubulin-α-1C antibody were correlated with the SSc inflammation and disease activity markers ESR(r=0.313, P=0.019), The levels of anti-tubulin-α-1C antibody were also significantly correlated with MRSS(r=0.636, P < 0.01). The best cut-off value for the diagnose of SSc was 76.77 as mean+2SD value. The proportion of Raynaud's phenomenon was higher in the group of anti-tubulin-α-1C autoantibody-postive SSc patients than that in anti-tubulin-α-1C autoantibody negative group(71.4% vs. 37.5%, P=0.039). The proportions of anti-Scl-70 antibody, anti-CENP antibody and anti-cardiolipin antibody were higher in the group of anti-tubulin-α-1C autoantibody-postive SSc patients than in the anti-tubulin-α-1C autoantibody negative group (37.9% vs. 15.2%, 34.5% vs. 12.1%, 13.8 vs. 0, respectively, all P < 0.05). CONCLUSION Based on this explorative stu-dy, the level of anti-tubulin-α-1C antibody increased in the serum of the patients with SSc. There were correlations between anti-tubulin-α-1C autoantibody and clinical and laboratory indicators of the SSc patients. It may become a novel biomarker indicative of active SSc and could be applied in future clinical practice.
Antibodies, Antinuclear ; Autoantibodies ; Humans ; Lupus Erythematosus, Systemic ; Scleroderma, Systemic ; Sjogren's Syndrome