SAGE Open Medical Case Reports最新文献

Gastrointestinal tract (GIT) metastases occur in only 0.6% of metastatic breast cancer cases, with invasive lobular carcinoma being the predominant histological subtype. Synchronous GIT metastases at the time of invasive ductal carcinoma (IDC) diagnosis are exceptionally uncommon. We report a case of de novo IDC presenting with synchronous, multifocal metastases in the stomach and colon. The diagnosis was prompted by significantly elevated tumor markers and confirmed via endoscopic examination and biopsy. This case underscores the rarity of GIT metastases, particularly in IDC, and highlights the critical need for a high index of suspicion in the face of markedly elevated tumor markers, even without gastrointestinal symptoms. While contrast-enhanced computed tomography has limited sensitivity for detecting small GIT lesions, endoscopic biopsy with immunohistochemical analysis remains the gold standard for diagnosis. Accompanying this report is a systematic literature review on breast cancer metastases to the GIT.

Psoriasis is a chronic, autoinflammatory skin disease. Tumor necrosis factor-alpha inhibitors are commonly used for the treatment of moderate-to-severe psoriasis; however, paradoxical psoriatic eruptions are a well-recognized adverse effect. There are no validated guidelines to manage this. We present the case of a 48-year-old woman with severe pustular psoriasis who developed acute paradoxical reactions after her first two infusions of infliximab, requiring hospitalization. She achieved disease control after transitioning to secukinumab, an interleukin-17 inhibitor. This case highlights the importance of early monitoring for paradoxical reactions in patients with severe psoriasis after initiating tumor necrosis factor-alpha inhibitor therapy and the value of transitioning to an alternative biologic class for effective management.

Cerebral hemosiderosis is a condition resulting from recurrent or extensive intracranial hemorrhages, leading to hemosiderin deposition in central nervous system structures and affecting cranial nerves. The classic clinical triad includes sensorineural hearing loss, cerebellar ataxia, and pyramidal signs, with less frequent involvement of other cranial nerves. In our case however, we report a unique presentation of multiple lower cranial nerve involvement following a right-myelencephalic subarachnoid hemorrhage secondary to hemorrhagic ventricular effraction in a 58-year-old male patient. We aim to highlight the implications of atypical cranial nerve hemosiderosis on swallowing and tracheotomy weaning and demonstrate the importance of tailored rehabilitation approaches. The patient presented a coma after hemorrhagic stroke and was later diagnosed with hemosiderosis affecting cranial nerves IX, X, and XII, leading to severe dysphagia and delayed tracheotomy weaning. Magnetic resonance imaging with susceptibility-weighted sequence confirmed the diagnosis. Neurorehabilitation was adjusted to incorporate specific swallowing techniques addressing pharyngeal motor deficits. Despite the tracheotomy weaning delay (31 vs 12.75 days average), a specific adaptation of cervical posture during the swallowing, that is, anterior flexion combined with a rotation ipsilateral to the affected side helped to secure swallowing and promote tracheotomy weaning. This case emphasizes that hemosiderin deposits can affect cranial nerves beyond the typical vestibulocochlear nerve, possibly influenced by cerebrospinal fluid flow patterns near Magendie's foramen. This case underscores the need for early diagnosis and tailored rehabilitation in cerebral hemosiderosis with atypical cranial nerve involvement to optimize functional outcomes. Further research is essential to guide management in such rare presentations.

We present a case of severe and atypical Drug Reaction with Eosinophilia and Systemic Symptoms/Drug-induced hypersensitivity Symptoms (DRESS/DiHS), also known as DiHS, in a 46-year-old Chinese woman, triggered by bortezomib (Velcade), a proteasome inhibitor, commonly used for the treatment of multiple myeloma. Bortezomib-induced DRESS/DiHS syndrome is rare, with this being the second case documented in the literature. The patient presented with severe erythroderma with ichthyosis-like features, hypereosinophilia, and liver injury. Initial response to high dose of solumedrol was followed by relapses upon switching to oral prednisone. Ultimately, the patient responded to dupilumab and maintained complete remission.

Esophageal nerve sheath tumors are the least common type of esophageal submucosal tumors, with fewer than 60 cases reported in the literature.¹ These tumors typically occur as a solitary lesion in individuals aged 40-70, with a slight female predominance² and possible links to genetic syndromes such as neurofibromatosis type 2.³ Due to their rarity, they are often poorly recognized clinically and misdiagnosed prior to surgery. We present a rare case of esophageal nerve sheath tumor, diagnosed on esophagogastroduodenoscopy in a 46-year-old male who presented with chronic iron deficiency anemia. The patient was successfully treated with endoscopic submucosal dissection. This case highlights diagnostic and therapeutic considerations of this uncommon entity.

This study aims to evaluate treatments for actinic prurigo, a chronic, photosensitive dermatosis disproportionately affecting Indigenous populations. We present the case of a 49-year-old Indigenous woman with refractory actinic prurigo successfully managed with upadacitinib, a Janus kinase inhibitor. After inadequate responses to photoprotection and topical corticosteroids, the patient demonstrated substantial clinical improvement with systemic upadacitinib therapy, achieving marked symptom reduction and improved quality of life. A systematic review including 334 actinic prurigo patients from 38 studies found the highest complete resolution rates with Janus kinase inhibitors (100%), hydroxychloroquine (100%), and topical tacrolimus (100%). Treatment recurrence was common with thalidomide (34%), highlighting limitations of traditional therapies. Janus kinase inhibitors, targeting cytokine-driven inflammation, appear particularly promising. Although further large-scale studies are needed, our findings suggest Janus kinase inhibitors such as upadacitinib offer effective and safe treatment alternatives for refractory actinic prurigo, significantly enhancing patient outcomes and quality of life.

Post-traumatic facial scars cause significant emotional distress. Early multimodal approach combining topical and laser treatments may improve outcomes. A 26-year-old woman presented with multiple upper-facial lacerations after a car accident. Silicone gel was applied twice daily beginning 1-month post-injury, followed by 4 monthly sessions of combined Neodymium-doped Yttrium Aluminum Garnet (15 J/cm², 9 mm, 0.6 ms) and fractional Erbium-doped Yttrium Aluminum Garnet (60 J/cm², 1.2 Hz, 300 ms) laser therapy starting at 1.5 months. After 6 months, excellent cosmetic results were achieved. This case highlights the importance of early multimodal intervention with silicone gel and laser treatment as an effective method to improve esthetic and psychological outcomes in post-traumatic facial scarring.

Superior vena cava syndrome (SVCS) caused by gallbladder cancer is extremely rare, with tumor thrombus potentially leading to right atrial obstruction or fatal pulmonary embolism. This report presents a 56-year-old female with gallbladder cancer who developed SVCS due to tumor metastasis. The patient presented with cough, hoarseness, dyspnea, headache, and facial-cervical swelling. Contrast-enhanced chest computed tomography confirmed tumor thrombi in the left brachiocephalic vein, right brachiocephalic vein, and superior vena cava (SVC). Under cardiopulmonary bypass, SVC thrombectomy was performed, revealing two massive thrombi (20 × 80 mm, 10 × 80 mm). At the 11-month follow-up, the patient showed good recovery without thrombus-related complications. Surgical intervention directly relieved mechanical obstruction caused by tumor or thrombus, demonstrating its crucial role in palliating life-threatening obstruction and improving quality of life in advanced cancer with SVCS.

Marginal zone lymphoma is the second most common subtype of indolent non-Hodgkin lymphoma. Its clinical manifestations are heterogeneous and largely determined by the involved site. Chylous ascites, as the initial presentation of marginal zone lymphoma, is extremely rare. We report a 79-year-old man who presented with rapidly progressive abdominal distension due to high-volume chylous ascites. Flow cytometry of the ascitic fluid revealed a monoclonal lambda-restricted B-cell population consistent with low-grade B-cell lymphoma. Bone marrow biopsy confirmed splenic marginal zone lymphoma. Initial rituximab monotherapy was ineffective; however, combination therapy with orelabrutinib and rituximab led to complete resolution of ascites after two cycles and marked disease control. At 6-month follow-up, the patient remained in remission. Clinicians should consider lymphoma in the differential diagnosis of unexplained chylous ascites. Prompt etiologic treatment can result in favorable outcomes even in elderly patients with advanced disease.

Molluscum contagiosum is a common pediatric viral skin infection characterized by small, flesh-colored, umbilicated papules on the skin. Molluscum contagiosum lesions are typically benign and self-resolve, but they may trigger a surrounding eczematous dermatitis that may mimic other infections or an atopic dermatitis flare. We report a case of an 8-year-old boy with eczematous molluscum contagiosum whose eruption masqueraded as herpes simplex virus infection. The patient presented with a several week history of pruritic rash with bleeding and crusting, but careful examination revealed conventional umbilicated papules consistent with molluscum contagiosum. The dermatitis was managed with conservative skin care, low-potency corticosteroids, and topical antibiotics (for cracked skin/open sores). This case highlights the importance of recognizing molluscum dermatitis and distinguishing it from herpes simplex virus, atopic dermatitis flare, or bacterial infection to avoid unnecessary investigations or treatments.