Journal of investigative medicine high impact case reports最新文献

Anaplastic large-cell lymphoma (ALCL) is a rare type of T-cell lymphoma characterized by a clonal proliferation of atypical large cells. Here, we describe a 63-year-old man presenting with subcutaneous nodules on the scalp and anterior chest wall, right axillary lymphadenopathy, and systemic B symptoms. Positron emission tomography imaging revealed hypermetabolic activity in the scalp, chest wall, and axillary lymph nodes, suggestive of aggressive lymphoma. Histopathological analysis confirmed lymphoma with atypical large cells, and immunohistochemistry showed that both ALK and CD30 were negative, making the diagnosis atypical. This case illustrates the rarity of scalp involvement in ALK-negative ALCL and underscores the importance of a multidisciplinary approach, integrating clinical, imaging, and histological findings for accurate diagnosis and management.

Localized amyloidosis is a rare benign disease characterized by extracellular deposition of misfolded proteins in a specific organ without systemic involvement, which might lead to organ dysfunction. Patients with localized amyloidosis do not develop systemic diseases such as cardiac, renal, hepatic, or nerve involvement. Typically, the localized disease is managed by surgical resection, while the systemic disease is treated with a combination chemotherapy and immunotherapy. However, some patients can have challenging clinical presentations, delaying diagnosis and organ dysfunction, and they might require systemic therapeutic intervention. There is a significant paucity of knowledge and data regarding clinical manifestations and the course of localized amyloidosis in various organs, and management can also be challenging. It is crucial to appropriately balance effective therapy with patient safety as treatment can lead to toxicity. Here, we discuss a series of patients who were presented with localized amyloidosis and one of whom needed systemic therapy.

Rosai-Dorfman disease (RDD) is a rare non-Langerhansian histiocytosis, classically manifesting as massive cervical lymphadenopathy. Isolated extra-nodal forms, particularly in soft tissues, are exceptional and may simulate a malignant tumor. We report the case of a 56-year-old patient presenting with a painless mass of the right thigh that had been evolving for several weeks. Clinical examination revealed a deep mass measuring approximately 10 cm. Magnetic resonance imaging showed a tissue formation encompassing the femoral vessels, responsible for thrombosis with vascular stenosis. A surgical biopsy was performed. Histological analysis, coupled with immunohistochemistry, confirmed the diagnosis of RDD. Anticoagulant therapy with apixaban was instituted for the venous thrombosis. The evolution was marked by spontaneous regression of the mass without recourse to additional surgery. This case illustrates an atypical presentation of RDD through isolated involvement of the soft tissues of the thigh, complicated by deep venous thrombosis. Diagnosis is based on histopathological examination. Treatment is individualized and may be limited to monitoring in nonprogressive forms. RDD must be included in the differential diagnosis of deep soft tissue masses. Early recognition can avoid invasive treatment.

Scleroderma renal crisis is a rare, life-threatening complication of systemic sclerosis. It is characterized by pronounced hypertension, acute kidney injury, and thrombotic microangiopathy. Although its prevalence has decreased over the last decade, and death rates have declined since the introduction of treatment with Angiotensin converting enzyme (ACE)-inhibitors, it remains a challenge due to lack of prevention and rapid progression despite intervention in those who develop renal crisis. We present a 46-year-old female with history of rheumatoid arthritis and scleroderma who presented to the Emergency Department (ED) with complaints of a severe headache associated with nausea and vomiting that started earlier in the day. Patient presented with a blood pressure of 180/103 that did not improve with use of anti-hypertensive medications. Labs were remarkable for anemia and decreased renal function. A CT of the abdomen and pelvis without contrast demonstrated distention of distal esophagus with possible underlying esophageal dysmotility due to degree of distention and dependent areas of tractional bronchiectasis in the bilateral lower lobes that can be seen in the setting of early interstitial lung disease. Treatment with an ACE-inhibitor was initiated, with improvement in blood pressure and resolution of headache. This case demonstrates another rare case and illustrates the importance of rapid recognition and treatment.

Right atrial myxomas (RAMs) are exceedingly rare cardiac tumors that can incur devastating complications. These tumors are capable of producing right-sided heart failure (rHF) through obstruction of venous return and tricuspid inflow. Herein, we describe a 52-year-old woman presenting with classic symptomatology of rHF as clinical sequelae of a giant RAM. The clinician should be cognizant of RAMs as an atypical etiology of rHF, and the complementary imaging modalities in the diagnostic work-up and early surgical resection as key management strategies.

Co-infection with Mycobacterium tuberculosis and Aspergillus in an immunocompetent host is rare but can occur. In this case, we present a patient with central nervous system tuberculosis (TB) and biopsy-proven spinal co-infections with TB and Aspergillosis. We highlight the complexities of treating a TB-Aspergillosis co-infection given drug-drug interactions between standard therapy for both conditions. Using susceptibilities for the Aspergillus and carefully monitoring drug levels of the antifungal agents, we were able to optimally treat the co-infection. This patient was ultimately discharged on isoniazid 1200 mg (15 mg/kg) daily, levofloxacin 750 mg daily, rifabutin 450 mg daily, and posaconazole 300 mg twice daily with a tentative plan to treat for at least 1 year with close outpatient follow-up. This case can serve as a guide for other providers who need to treat cases of TB and Aspergillosis co-infection by learning from our experience and paying attention to potential pitfalls.

Immunotherapy has become the standard of care for advanced and resectable lung cancer, and specific mutations may predict immunotherapy response. For example, STK11 mutations, which are more common in African American patients, are associated with immunotherapy resistance. A 68-year-old African American man with stage IIIB lung adenocarcinoma with mediastinal lymph node involvement progressed on first-line concurrent carboplatin-based chemoradiotherapy. Molecular testing of the patient's subcarinal lymph node tissue revealed STK11 S216F, TP53 R273L, and RB1 splice site mutations; high tumor mutation burden (19.0 mutations/Mb); and high PD-L1 22c3 expression (TPS 70%, 2+ intensity). Treatment with carboplatin-based chemotherapy with radiation therapy failed to control the disease, but the patient has tolerated and responded well to intravenous pembrolizumab. Although STK11 mutations are associated with immunotherapy resistance, our patient demonstrated an exceptional and sustained response to immunotherapy for over two years. The patient's STK11/TP53 co-mutation, along with high TMB and PD-L1 22c3 TPS scores, may help explain his continued responsiveness to immunotherapy and longer survival. Importantly, incorporating genetic ancestry differences in mutation prevalence and the impact of specific mutations and co-mutations, may help ensure the equitable and optimal treatment of all patients with lung cancers.

Pulmonary artery pseudoaneurysms (PAPAs) are rare and potentially fatal vascular complications that often require early detection. Most common etiologies are infection and trauma (including iatrogenic from procedures like pulmonary artery catheterization or lung biopsy). Early clinical signs include hemoptysis, dyspnea, and hemodynamic instability. Diagnostic workup should always include appropriate imaging modality, with computerized tomography (CT) and CT angiography as important diagnostic tools. Given the limited number of reported cases, treatment is not definitive and is largely guided by symptoms and patient present. In the case of massive hemoptysis, coil embolization or pulmonary vascular stenting is the preferred option. In the current case of asymptomatic PAPA, we will outline a more conservative approach to treating PAPA.

When there is concern that a rash may be a drug eruption reaction, there are many well-known culprits such as antibiotics and phenytoin. When an uncommon or previously unknown offending medication is being considered to have caused a drug eruption, diagnostic skin biopsy can help confirm the diagnosis. Our patient is a 54-year-old female with past medical history of prediabetes and obesity. She had ST segment-elevation myocardial infarction that was treated appropriately with timely percutaneous coronary intervention, which included angioplasty and drug-eluting stent placement. She was maintained on treatment regimen, and over the next 3 months, she developed a worsening maculopapular rash across her torso and upper extremities. Her biopsy showed superficial and mid-dermal perivascular lymphohistiocytic inflammation with focal spongiosis and scattered eosinophils, a common pathologic finding seen in drug eruptions. Although the patient was not taking any well-known offending agents, her ticagrelor was discontinued and she was transitioned to clopidogrel. Shortly after the transition, the patient's drug rash resolved without recurrence. Drug eruptions are a common etiology for rashes leading to presentation in primary care clinics. Our patient illustrates an exceedingly rare case of ticagrelor-induced drug reaction, as a review of the literature shows only 2 previously published case reports.

Kikuchi-Fujimoto disease, also known as histiocytic necrotizing lymphadenitis, is characterized by high fever, lymph node swelling, and leukopenia. It is usually a benign self-limited disease. However, there are reports that it can be associated with other conditions, including infectious and noninfectious processes, autoimmune diseases such as systemic lupus erythematosus (SLE), or even life-threatening conditions like macrophage activation syndrome (MAS). Here, we report 2 cases of Kikuchi disease with non-self-limited disease in West Texas. The first case involves a 13-year-old Hispanic female who presented with prolonged fever for 8 weeks, cervical lymphadenopathy, and malaise. A year later, she was diagnosed with SLE. The second case is a 36-year-old Hispanic female who presented with prolonged fever and cervical, supraclavicular, axillary lymphadenopathy, and pancytopenia. She then developed MAS or hemophagocytic lymphohistiocytosis.