Systemic sclerosis, a rare autoimmune disease in children, frequently presents with aggressive clinical features and high risk of interstitial lung disease. Tocilizumab, an anti-interleukin-6 receptor monoclonal antibody, has exhibited efficacy in adult systemic sclerosis with interstitial lung disease; however, evidence in pediatric cases remains extremely limited. We report a 12-year-old Japanese girl who developed early-stage juvenile systemic sclerosis with interstitial lung disease, presenting with Raynaud's phenomenon, puffy fingers, positive anti-topoisomerase I antibody, reduced pulmonary function, and ground-glass opacities on high-resolution computed tomography. Consequently, tocilizumab monotherapy was initiated. During a follow-up period of over 3 years, her pulmonary function remained stable, and high-resolution computed tomography showed partial resolution of interstitial changes. No significant adverse events, such as severe infections or cytopenias, were observed. Early tocilizumab initiation may represent a potential therapeutic option for juvenile systemic sclerosis with interstitial lung disease. However, further studies are warranted to validate its role and optimize treatment guidelines for this rare but severe condition.

Intracranial aneurysms associated with systemic sclerosis and Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia (CREST) syndrome are rare, and their pathophysiological relationship remains uncertain. We report the case of a 24-year-old male with systemic sclerosis and clinical features suggestive of CREST syndrome who presented with subarachnoid hemorrhage caused by a ruptured right middle cerebral artery bifurcation aneurysm. The aneurysm was treated with microsurgical clipping, followed by stent-assisted coiling for a residual aneurysm neck identified on follow-up angiography. The patient had a favorable neurological outcome with mild persistent cognitive deficits. A review of the literature identified only a small number of reported intracranial aneurysm cases associated with systemic sclerosis or CREST syndrome. This case differs from previously reported CREST-associated cases in patient age, sex, and aneurysm morphology, and highlights the possible contribution of connective tissue disease, smoking, and prior amphetamine exposure to aneurysm formation and rupture.

Wernicke's encephalopathy (WE) is an acute, reversible but potentially disabling neurological syndrome caused by thiamine deficiency. It is increasingly recognized in non-alcoholic settings, particularly when persistent vomiting, poor intake, malabsorption, or systemic illness rapidly depletes limited thiamine stores. Patients with mixed connective tissue disease (MCTD) may be vulnerable because esophageal/gastrointestinal dysmotility, gastroesophageal reflux, chronic inflammation, and reduced oral intake can overlap and obscure nutritional complications. A 38-year-old woman with a 4-year history of anti-U1 RNP-positive MCTD, interstitial lung disease, Raynaud's phenomenon, sclerodactyly, polyarthritis, GERD, and pre-existing sensory axonal neuropathy presented with two weeks of recurrent postprandial vomiting followed by excessive daytime somnolence, bilateral horizontal nystagmus, lower-limb weakness, and impaired vibration sense. Brain MRI showed symmetrical T2/FLAIR hyperintensities involving the bilateral dorsomedial thalami, mammillary bodies, and periaqueductal gray matter. CSF examination was non-inflammatory, CSF cytology was negative, anti-aquaporin-4 antibody was negative, spinal MRI was normal, and infectious, malignant, metabolic, and neuromyelitis optica spectrum disorder differentials were excluded. Empirical intravenous thiamine 500 mg three times daily was started on day 1; vomiting, alertness, and nystagmus improved within 72 h, and complete neurological recovery was documented at one month. This case highlights non-alcoholic WE as a treatable neurological mimic in autoimmune rheumatic disease. Persistent vomiting with new ocular, cognitive, gait, or motor findings in MCTD should prompt early empiric parenteral thiamine, even when the classical triad is incomplete and serum thiamine is unavailable.

The presence of abnormal nailfold capillaries and antinuclear antibodies (ANA) is associated with increased all-cause mortality in patients presenting with incipient Raynaud's phenomenon (RP). We conducted a retrospective analysis aiming to assess the association between abnormal nailfold capillaries, ANA, and mortality over a 20-year follow-up period. In 2958 patients with incipient RP without previously known connective tissue disease, nailfold capillaroscopies and laboratory tests for ANA and ANA-subsets were obtained. Of these, long-term follow-up data were available for 2922 patients. Over a median follow-up period of 23 (IQR 20.2-25.2) years, 832 patients died, of which 562 were women (25% of female patients) and 270 were men (41% of male patients). Compared to a demographically matched reference population, mortality was increased in female and male patients with RP (log-rank test < 0.001). In female patients with RP, the presence of ANA, anti-Scl-70 antibodies, and a grouping variable consisting of giant capillaries, reduced capillary density, and avascular fields was associated with an increase in all-cause mortality. The highest mortality was observed in patients presenting both abnormal nailfold capillaries and ANA. In the long-term, an excess mortality persists in patients with RP. Our study demonstrates prognostic associations between abnormal nailfold capillaries as well as ANA and mortality.

Systemic sclerosis (SSc) is a complex autoimmune disease marked by vasculopathy, fibrosis, and multisystem involvement. Interstitial lung disease (ILD) and pulmonary hypertension (PH) are major mortality contributors. Importantly, SSc is associated with an increased risk of malignancy. This report presents a challenging case of SSc with severe Raynaud's phenomenon (RP), digital gangrene, calcinosis cutis, extensive ILD, severe PH, and right heart failure. The patient underwent mesenchymal stem cell therapy (MST), following which she developed breast cancer and chemotherapy-related complications, ultimately leading to death. This case highlights the need for timely intervention, screening for malignancy, and awareness of potential therapy-related risks in SSc.