Relapsing polychondritis (RP) is a rare immune-mediated inflammatory disorder primarily affecting cartilaginous tissues throughout the body that may involve other connective tissues. The initial manifestation is often auricular chondritis, and cutaneous presentations are relatively uncommon. Approximately 30% of RP cases have an association with autoimmune diseases, but it is incredibly rare for there to be any coexistence with inflammatory bowel disease (IBD). Sweet syndrome (SS), which is also known as acute febrile neutrophilic dermatosis, also has an association with autoimmune disorders and is considered to be an incredibly rare extraintestinal IBD manifestation. In this article, a case of a patient simultaneously presenting with auricular chondritis, ulcerative colitis (UC), and SS, which had an effective response to systemic corticosteroid therapy is reported. As far as we are aware, this is the first reported case of the coexistence of these three disorders, and it will provide valuable insights into the diagnosis and management of RP that is complicated by UC and other associated conditions.
Scrotal epidermoid cysts are uncommon benign lesions and rarely attain giant dimensions. We report a 60-year-old male who presented with a progressively enlarging left scrotal swelling of one year's duration associated with a dragging sensation for two to three months. There was no associated pain, urinary complaints, fever, trauma, discharge, or constitutional symptoms. Clinical examination revealed a large, nontender cystic swelling involving the left hemiscrotum, measuring approximately 12×10 cm, with multiple sebaceous cysts over the scrotal skin. The left testis was palpable separately from the swelling. Ultrasonography, contrast-enhanced computed tomography, and magnetic resonance imaging suggested a giant epidermoid cyst arising from the left scrotal sac. Complete surgical excision was performed under spinal anesthesia. Intraoperatively, approximately 600 g of thick, whitish, pultaceous keratinous material was evacuated, followed by complete excision of the cyst wall while preserving the left testis. Redundant scrotal skin was excised, and scrotoplasty was performed. No drain was placed. The patient was discharged on postoperative day 2 with scrotal support. Histopathological examination showed an epidermoid cyst with inflammation. Giant scrotal epidermoid cysts are exceedingly rare and may mimic other benign and malignant scrotal lesions. Complete surgical excision remains the treatment of choice and provides excellent functional and cosmetic outcomes.
Scimitar syndrome (pulmonary veno-lobular syndrome) is a rare congenital anomaly characterized by abnormal pulmonary venous drainage. The coexistence of this syndrome with a veno-venous shunt connecting an accessory hepatic vein to the main hepatic vein is exceptionally rare; to our knowledge, this is the first such case reported in an asymptomatic patient. A pediatric patient was referred to cardiology following the incidental discovery of a heart murmur during a routine exam. While the patient was asymptomatic, an echocardiogram revealed mitral valve regurgitation and right-sided heart dilation. A chest X-ray showed the classic "scimitar" sign (a curved paracardiac opacity). Subsequent CT angiography confirmed that the entire right lung drained into the inferior vena cava and identified an incidental veno-venous shunt between the inferior right accessory hepatic vein and the main hepatic vein. This report highlights a unique variant of Scimitar syndrome involving an unusual hepatic vascular shunt. It underscores the critical role of advanced imaging in detecting latent vascular anomalies, even when clinical symptoms are absent.
Leiomyosarcoma of the superior vena cava (SVC) is an exceptionally rare vascular tumor. Fewer than 20 cases were reported worldwide. Because of the nonspecific nature of the presenting symptoms and their deep mediastinal location, a pre-operative diagnosis is often difficult or impossible. A 63-year-old woman presented with progressive facial and upper-limb edema. Computed tomography (CT) demonstrated a hyper vascular intraluminal mass originating in the SVC and extending towards the right atrium. Percutaneous biopsy was considered unsafe due to the risk of hemorrhage. Therefore, radical surgical resection of the SVC and brachiocephalic veins with xenopericardial patch reconstruction was performed. Histological and immunohistochemical examination confirmed a grade two leiomyosarcoma. No adjuvant therapy was given. At 8-month follow-up, there was no evidence of recurrence. Primary SVC leiomyosarcoma is a rare and diagnostically challenging condition. Pre-operative biopsy is often not feasible, and radical en bloc resection with vascular reconstruction remains the cornerstone of treatment, offering the best chance of recurrence-free survival. Histopathological confirmation is required to establish the diagnosis, and the role of adjuvant therapy remains uncertain.
Overlap syndrome refers to the coexistence of more than one immune-mediated liver disease in a single patient. Primary sclerosing cholangitis-autoimmune hepatitis (PSC-AIH) overlap is a rare but clinically important entity, as delayed recognition may lead to progressive liver injury, cirrhosis, and liver failure. Differentiating this condition from isolated PSC or AIH remains challenging due to overlapping clinical, biochemical, and radiological features. A 20-year-old male presented with progressive jaundice, pruritus, acholic stools, and dark urine for one month. Laboratory evaluation revealed marked cholestasis with significantly elevated alkaline phosphatase and transaminases, hyperbilirubinemia, and coagulopathy, while viral and metabolic causes were excluded. Magnetic resonance cholangiopancreatography demonstrated characteristic intrahepatic biliary duct irregularities consistent with primary sclerosing cholangitis. However, disproportionately elevated alanine aminotransferase and serum immunoglobulin G levels prompted further evaluation. Liver biopsy revealed features of both diseases, including interface hepatitis with chronic portal inflammation and plasma cell infiltration, along with bile duct injury, ductopenia, and onion-skin fibrosis. Based on histology and diagnostic scoring, a diagnosis of PSC-AIH overlap syndrome was established. The patient was treated with ursodeoxycholic acid, corticosteroids, and azathioprine, resulting in marked clinical and biochemical improvement on follow-up. This case highlights the importance of considering PSC-AIH overlap syndrome in young patients with cholestatic liver disease and unexpectedly elevated transaminases or immunoglobulin G levels. Early recognition and combined immunosuppressive and supportive therapy can lead to favorable outcomes and may prevent irreversible liver damage.
Infantile neuroaxonal dystrophy (INAD) should be considered in any toddler presenting with psychomotor regression and cerebellar atrophy, even when basal ganglia iron deposition is absent on initial MRI. Molecular genetic testing of PLA2G6 is essential for definitive diagnosis, enabling accurate genetic counseling and timely multidisciplinary supportive care.
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Spontaneous hemorrhage is a rare but serious complication of dermatomyositis (DM). We report a 61-year-old man with anti-NXP2-positive DM who developed a retroperitoneal hematoma without anticoagulation, shortly after corticosteroid initiation. Laboratory investigations demonstrated rhabdomyolysis, hepatic injury and coagulopathy. The patient was managed with red blood cell transfusion, factor VIII, high-dose corticosteroids and intravenous immunoglobulin, resulting in complete recovery. Although hemorrhagic events in DM are most often linked to anti-MDA5 or anti-Ro52 antibodies, their association with anti-NXP2 antibodies remains uncertain. This case highlights the importance of early recognition and prompt intervention in managing spontaneous hemorrhage in DM.
Orphan drug policy in the European Union faces a double price-and-innovation gap: a small fraction of rare diseases receive important resources while the overwhelming majority are under- or un-researched, leaving most rare disease patients facing high unmet medical needs. The European Commission's reform proposals, notably the Pharma Package and the European Biotech Act, seek to rebalance incentives by adjusting market exclusivity. We argue that, while these reforms move in the right direction, they are insufficient to foster meaningful innovation while safeguarding affordability, and that a broader, more structural approach is needed. We show how proposals from the Draghi Report could complement the reforms through an EU-level HTA Coordination Office, a US-style EU ARPA-H, and expanded regulatory sandboxing. We then propose two additional instruments: public-private Special Purpose Vehicles to de-risk high-need innovation, and EU-level joint procurement to strengthen affordability and create predictable demand. Ultimately, only a coherent, well-calibrated framework can align industrial policy with the EU's ambition of leaving no rare-disease patient behind.
Infective endocarditis (IE) due to Proteus mirabilis is rare, particularly in the absence of an identifiable primary source. We report a case of a woman in her 50s with a history of remote IE and polysubstance use disorder who presented with progressive gait slowing and weakness over one month. Neuroimaging revealed an acute-to-subacute infarct in the right anterior cerebral artery territory. Further evaluation demonstrated mitral valve abnormalities with suspected vegetation, and subsequent blood cultures grew Proteus mirabilis in all four blood culture bottles. Notably, the initial blood cultures obtained during admission were negative despite subsequent high-grade bacteremia. Extensive evaluation failed to identify a primary genitourinary, gastrointestinal, or respiratory source of bacteremia. The patient was treated with a six-week course of IV ceftriaxone, resulting in microbiologic clearance and clinical improvement, with a residual mild neurologic deficit. Follow-up echocardiography demonstrated persistent valvular abnormalities, likely representing fibrotic sequelae. This case highlights a rare etiology of native valve endocarditis, the diagnostic challenges of subacute presentations, and the importance of comprehensive investigation in patients with stroke of unclear etiology.
Myocardial bridging (MB) is usually benign but may occasionally be associated with ischemia or arrhythmias. Exercise induced conduction abnormalities are rare and poorly understood. A 69-year-old asymptomatic male developed transient right bundle branch block (RBBB) at peak exertion during treadmill stress testing, without angina, ischemic ECG changes, or hemodynamic instability. The RBBB resolved immediately during recovery. Coronary computed tomography angiography identified a superficial myocardial bridge of the mid-left anterior descending artery without luminal narrowing or atherosclerosis. The findings supported a benign, rate dependent conduction delay rather than ischemia. This case illustrates a rare coexistence of MB with exercise-induced RBBB and highlights the importance of recognizing nonischemic conduction phenomena to avoid unnecessary invasive studies.
Pure red cell aplasia is a rare hematologic disorder characterized by severe normocytic anemia, reticulocytopenia, and absence of erythroid precursors. Since the COVID-19 pandemic, pure red cell aplasia has emerged as an uncommon post-infectious complication, likely driven by immune dysregulation. A 72-year-old man developed transfusion-dependent anemia several weeks after a mild COVID-19 infection. Laboratory evaluation revealed normocytic anemia (hemoglobin of 7.0 g/dL) with profound reticulocytopenia, and bone marrow biopsy showed markedly reduced erythropoiesis with preserved granulopoiesis and megakaryopoiesis. Secondary causes, including nutritional deficiencies, hemolysis, autoimmune disease, parvovirus B19, and hematologic malignancy, were excluded. The patient failed to respond to intravenous immunoglobulin, corticosteroids, and cyclosporine, achieving only a transient partial remission. Rituximab therapy was subsequently initiated and resulted in complete hematologic recovery and sustained remission at 1 year. COVID-19-associated pure red cell aplasia is a rare but clinically important complication. Clinicians should consider it in patients with severe post-COVID anemia, and rituximab may be effective in cases refractory to standard immunosuppressive therapy.
Bilateral tubal pregnancy (BTP) is a rare and diagnostically challenging form of ectopic pregnancy. This report emphasizes the critical importance of serial beta-human chorionic gonadotropin (β-hCG) surveillance following conservative tubal surgery. A 29-year-old patient underwent laparoscopic salpingostomy for a right tubal pregnancy. Serial β-hCG measurements were performed postoperatively to monitor trophoblastic activity. Instead of the expected decline, β-hCG levels rose postoperatively (from 809.29 mIU/mL to 942.47 mIU/mL by day 3). This abnormal trend prompted re-evaluation, leading to the identification of a contralateral tubal pregnancy via ultrasonography. Surgical intervention confirmed the diagnosis of BTP. Following the second procedure, β-hCG levels normalized within one month. Systematic postoperative β-hCG monitoring is essential for the early detection of persistent ectopic pregnancy and rare conditions like BTP. This case demonstrates that vigilant laboratory surveillance can trigger crucial clinical reassessment, thereby preventing diagnostic oversight and guiding effective management.
Myxoid fibroadenoma is a rare histologic variant of conventional fibroadenoma characterized by prominent hypocellular myxoid stromal change. Owing to its overlapping morphologic features with other myxoid breast lesions, including mucinous carcinoma and phyllodes tumor, it may pose a significant diagnostic challenge, particularly in limited biopsy specimens. We report the case of a 47-year-old woman presenting with a non-palpable breast mass, initially evaluated with imaging and core needle biopsy. Preoperative histopathologic assessment demonstrated a fibroepithelial lesion; however, definitive diagnosis remained uncertain because of the prominent myxoid stromal component and limited sampling. Surgical excision was therefore performed, and complete histopathologic examination established the diagnosis of myxoid fibroadenoma. Microscopic evaluation revealed a well-circumscribed benign biphasic fibroepithelial lesion composed of epithelial and stromal components with abundant hypocellular myxoid stroma, without cytologic atypia, stromal overgrowth, or increased mitotic activity. Myxoid fibroadenoma is an uncommon benign breast lesion that may mimic malignant or borderline breast neoplasms, particularly in limited biopsy specimens. Awareness of this rare entity and careful radiologic-pathologic correlation are essential to avoid misdiagnosis as an aberration of the normal development and involution (ANDI).
Gout is a metabolic condition in which hyperuricaemia leads to deposition of monosodium urate (MSU) crystals in synovial and peri-articular tissues. (1) Acutely, synovial deposition causes a painful inflammatory reaction. Over time, chronic hyperuricaemia can lead to deposition of uric acid crystals in alternate tissues, with granulomatous inflammatory responses forming gouty tophi. Chronic tophaceous gout affects approximately 3% of gout patients and presents as a spectrum from classical nodular tophi to rarer disseminated manifestations such as miliarial gout, panniculitis and ulcerative cutaneous gout. (2) This case details the management of a Maori patient in his 40s, presenting with acute infection of extruding gouty tophi across his lower limbs, managed with antibiotics, surgical debridement and oral urate-lowering therapy. Multiple secondary complications of gout were identified during his care, including involvement of tendons and nerves in gouty deposits (with rare involvement of forearm extensor tendons), early onset polyarticular osteoarthritis with joint destruction and osteopenia. This case demonstrates the widespread effects of this disease and a range of complications secondary to poorly controlled tophaceous gout.
BACKGROUND Chemotherapy is a cornerstone of systemic treatment for breast cancer. Common adverse effects include nausea, vomiting, diarrhea, and myelosuppression; chemotherapy-induced colitis is rare, and its underlying mechanisms remain unclear. We aim to raise awareness of this uncommon but serious adverse event and describe a practical approach to regimen modification. CASE REPORT A 53-year-old woman underwent left total mastectomy for invasive breast carcinoma (pT2N0M0, Stage IIA; ER [-]/PR [-]/HER2 [3+]). She received adjuvant chemotherapy with the TCbHP regimen (docetaxel, carboplatin, trastuzumab, and pertuzumab). One week after the first cycle, she developed abdominal pain and diarrhea. Colonoscopy revealed colitis. After dose reduction to 80% in the second cycle, abdominal pain recurred, and colonoscopy demonstrated colonic ulcers. The regimen was subsequently changed to THP (nab-paclitaxel, trastuzumab, and pertuzumab); symptoms then resolved, and follow-up colonoscopy showed ulcer healing. CONCLUSIONS Colitis associated with breast cancer chemotherapy is rare, presenting diagnostic and therapeutic challenges. Severe complications, including colonic necrosis, may develop if not promptly addressed. In the present case, timely intervention and regimen modification prior to the onset of intestinal necrosis appeared to prevent serious sequelae, including the need for intestinal resection. However, given the limitations of a single case report and the use of combination chemotherapy, a definitive causal relationship cannot be established.
Solid papillary carcinoma (SPC) of the breast is a rare neoplasm typically regarded as a low-grade tumor with indolent behavior. We report two cases of SPC in elderly women presenting with palpable breast masses. Preoperative imaging demonstrated BI-RADS 4 suspicious lesions, and ultrasound-guided core needle biopsy suggested a papillary neoplasm consistent with SPC. Definitive histopathological examination revealed SPC with unusual high-grade cytological features, including marked atypia, increased mitotic activity, and an elevated Ki-67 proliferation index, despite the absence of conventional invasive morphology in one case. These findings highlight a striking discordance between the typically indolent architectural appearance of SPC and cytological indicators of aggressive potential, underscoring the biological heterogeneity of this rare entity. Recognition of these atypical presentations is essential for accurate pathological diagnosis, risk stratification, and appropriate clinical management.
Paraneoplastic acral vascular syndrome is a rare condition associated with various malignancies, most commonly adenocarcinomas. It manifests as digital ischemia, including Raynaud's phenomenon, acrocyanosis, and digital gangrene. Reported cases typically show improvement after treatment of the underlying cancer. We describe the first known case of paraneoplastic acral vascular syndrome secondary to papillary thyroid carcinoma (PTC), with complete resolution following thyroidectomy. A 37-year-old previously healthy woman was referred from the vascular surgery clinic for evaluation of episodic digital discoloration. She reported a four-year history of recurrent Raynaud-like color changes affecting the middle fingers of both hands and the lateral four toes of both feet. She denied symptoms suggestive of connective tissue disease, inflammatory arthritis, autoimmune disorders, or cardiovascular disease, as well as tobacco or alcohol use. On examination, her feet were cold, with ulcers on the first and second toes of the right foot. Peripheral pulses in the lower extremities were diminished, with bilaterally weak dorsalis pedis pulses, more pronounced on the right.Her autoimmune panel was positive for anti-nuclear, anti-dsDNA, and anti-centromere antibodies. Capillaroscopy and arterial Doppler ultrasound of the lower limbs were unremarkable. Her symptoms progressed despite multiple treatments, leading to gangrene of the first and second toes of the right foot. A positron emission tomography (PET) scan showed no evidence of vasculitis but revealed focal uptake in a 1.14 cm nodule in the right thyroid lobe. Fine-needle aspiration suggested PTC. She underwent thyroidectomy, and histopathology confirmed papillary carcinoma along with medium-sized vessels showing intimal thickening and marked luminal narrowing, consistent with vasculitis. At 18month followup, she demonstrated complete clinical resolution with no new ulcerations. Paraneoplastic acral vascular syndrome is a rare condition that resembles Raynaud's phenomenon and may improve after treatment of the associated cancer. This case emphasizes the importance of considering occult cancer in patients with unexplained digital ischemia.
Diabetic striatopathy is a rare complication of uncontrolled diabetes, typically presenting with involuntary movements, striatal hyperdensity on computed tomography, and T1-weighted hyperintensity on magnetic resonance imaging. We describe a 52-year-old woman with hyperosmolar hyperglycemic state (glucose 34.0 mmol/L; osmolality 323 mOsm/kg) who developed left-sided weakness without chorea or ballism. Brain computed tomography showed subtle hypodensity of the right caudate nucleus and putamen, closely mimicking acute ischemic stroke; densitometry demonstrated a consistent side-to-side difference (5.89 Hounsfield units, P < .001). T1-weighted imaging showed concordant hyperintensity in the same region (mean per-pair signal-intensity ratio 1.117, P < .001). The weakness resolved within 1 week of glycemic optimization. Follow-up imaging at 12 months showed normalization of the signal abnormality (mean per-pair signal-intensity ratio 0.979, near unity). To our knowledge, the combination of movement-free, stroke-mimicking presentation with nonhemorrhagic striatal hypodensity showing no evidence of acute infarction has not been previously reported. Whether this reflects the timing of imaging relative to metabolic correction rather than a distinct radiologic entity remains to be established.
Mixed-pathogen infective endocarditis is uncommon and may be difficult to recognize when the clinical course is prolonged and nonspecific. We report a case of mixed Candida albicans and Brucella melitensis native aortic valve endocarditis in a 37-year-old previously healthy man who presented with five months of intermittent fever, chills, anorexia, fatigue, 7 kg weight loss, progressive dyspnea, and intermittent chest pain. Physical examination revealed fever, sinus tachycardia, wide pulse pressure, elevated jugular venous pressure, bibasilar crackles, and a loud early diastolic murmur. Laboratory testing was notable for leukocytosis, anemia, mild thrombocytosis, and elevated inflammatory markers. A transthoracic echocardiogram demonstrated severe aortic regurgitation with a large 19 mm aortic valve vegetation causing holodiastolic flow reversal in the descending thoracic aorta. A transesophageal echocardiogram revealed two large mobile vegetations causing severe leaflet malcoaptation with possible periannular extension. A cardiac CT scan revealed thickening of the aortic root consistent with abscess formation. Blood cultures were positive for Candida albicans and Brucella melitensis. Brucella serology was positive, with an agglutination titer of 1:640. The patient developed pulmonary edema requiring an urgent Bentall procedure with a mechanical composite graft. Valve tissue cultures were positive for Candida albicans, and histopathology from the resected valve was consistent with acute-phase infective endocarditis with features of necrosis, fibrin, and debris. The patient was placed on postoperative antifungal treatment with caspofungin followed by fluconazole suppression, and on Brucella-directed treatment with doxycycline, rifampin, and levofloxacin for a planned six-month course of therapy. A postoperative whole-body PET/CT scan using fluorine-18 fluorodeoxyglucose (18F-FDG) did not demonstrate any residual cardiac infection or extracardiac infectious foci. The patient was doing well clinically at the three-month follow-up, with no signs or symptoms of heart failure and no evidence of relapse or recurrence of fever. This is a rare case of destructive native aortic valve endocarditis with mixed fungal and zoonotic bacterial etiologies that required urgent surgical source control and prolonged combined antimicrobial therapy.