First Case of Nodular Localized Primary Cutaneous Amyloidosis Treated With Bortezomib and Dexamethasone.

Nodular localized cutaneous amyloidosis is a rare form of cutaneous amyloidosis and is characterized by an extracellular deposition of insoluble amyloid fibrils which are either primarily cutaneous or a manifestation of an underlying systemic amyloidosis. Biopsy of the lesion is mandatory for the diagnosis, and histopathology shows diffuse amyloid deposits with plasmacytic infiltration. Apple-green birefringence characteristic of amyloidosis is observed when stained with Congo red and viewed under polarized light. Amyloid subtyping is done with laser microdissection followed by mass spectrometry. Majority of these lesions do not require any treatment but surgical excision, shave excision, laser therapy, and radiotherapy can be considered for symptomatic nodular localized primary cutaneous amyloidosis (NLPCA). We present a case of recurrent NLPCA in a 64-year-old woman who was treated with bortezomib and dexamethasone after failing several local therapies with excellent response.

Hormone Receptor Positive/HER2 Negative Breast Cancer With Isolated Bladder Metastasis: A Rare Case.

Breast cancer is the most common cancer diagnosed in women in North America. Hormone receptor positive (HR+) and HER2 negative (HER2-) breast cancers account for at least 60% to 70% of all breast cancer cases. They usually metastasize to lymph nodes, bones, liver, lungs, and brain. Urinary bladder is a very unusual site for metastatic HR+/HER2- breast cancer and occurs in only 2% of all metastatic disease. In this article, we present a case of a 63-year-old female with locally advanced breast cancer who underwent mastectomy, adjuvant chemotherapy, radiation, and hormonal therapy. She was in remission for almost 17 years and subsequently presented with hematuria and lower abdominal pain. Cystoscopy was performed, which showed evidence of bladder wall thickening. Histopathology showed metastatic HR+/HER2- breast cancer consistent with her history of breast primary. Imaging studies did not show any other evidence of metastatic disease. She was started on cyclin D kinase 4/6 inhibitor, palbociclib, in combination with an aromatase inhibitor, letrozole. This is an exceedingly rare case of HR+ and HER2- breast cancer with metastasis to the urinary bladder. The late onset of recurrence with bladder metastasis makes this case very unique and to our knowledge only few similar cases have been reported in the literature.

Waldenstrom Macroglobulinemia Manifesting as Acute Kidney Injury and Bing-Neel Syndrome With Excellent Response to Ibrutinib.

Waldenstrom macroglobulinemia (WM) is a lymphoplasmacytic lymphoma associated with a monoclonal immunoglobulin M protein. Extranodal involvement in WM is not very common. In this article, we present a rare case of WM with kidney and central nervous system involvement. Bing-Neel syndrome is a distinct complication of WM where lymphoplasmacytic cells involve the central nervous system (CNS). Our patient was initially treated with dialysis and steroids with improvement in his kidney function. He was then started on systemic treatment with rituximab, cyclophosphamide, and dexamethasone with stable kidney function but persistent CNS symptoms. Due to rarity of cases, there is no standard treatment for Bing-Neel syndrome. His treatment was switched to ibrutinib with dramatic improvement in his CNS symptoms as well as radiological findings on magnetic resonance imaging.

Testicular Plasmablastic Lymphoma in an HIV-Negative Patient: A Rare Case Presentation.

Plasmablastic lymphoma (PBL) is a very rare disease and it is usually considered a human immunodeficiency virus (HIV)-related B-cell lymphoma that carries a poor prognosis. It mostly involves the oral cavity, lungs, nasal cavity, gastrointestinal tract, lymph node, and skin. Therapeutic regimens like dose-adjusted etoposide, vincristine, doxorubicin, cyclophosphamide, and prednisone (DA-EPOCH) have shown better results in these aggressive lymphomas. We report a rare case of PBL in an HIV-negative patient who presented to the clinic with a complaint of left testicular swelling for 3 months. Ultrasound showed an enlarged left testicle. He underwent a left orchiectomy and the pathology showed PBL with involvement of the spermatic cord margin. Positron emission tomography scan showed hypermetabolic mediastinal and hilar lymph nodes. He was started on DA-EPOCH but showed no response. Accordingly, salvage therapy with bortezomib in addition to ifosfamide carboplatin and etoposide (B-ICE) chemotherapy was initiated with remarkable response. Several other regimens can be used in the refractory setting; however, the evidence is mostly based on retrospective analysis.

Immunotherapy-Induced Sarcoid-Like Reaction: A Shrewd Imitator.

A 40-year-old male with a right-sided neck mass was diagnosed with metastatic melanoma. A repeat positron-emission tomography after treatment with combination immunotherapy demonstrated increased hypermetabolic activity in the right supraclavicular, hilar, and mediastinal regions. Immunotherapy was discontinued and a BRAF/MEK inhibitor combination was started. Repeat imaging showed a decrease in size of the neck mass; however, hilar and mediastinal lymph nodes increased in size. A fine needle aspiration of mediastinal lymph nodes was consistent with a granulomatous process. A diagnosis of a sarcoid-like reaction (SLR) was made, and he was started on steroids. A follow-up positron emission tomography showed decreased hilar and mediastinal lymph node hypermetabolic activity. We, therefore, report this rare case of immunotherapy-induced SLR to the expanding literature on immunotherapy-related adverse effects and would like to highlight that SLR can occur in conjunction with disease progression making it challenging to distinguish between the two.

An updated review of epidemiology, risk factors, and management of male breast cancer.

Unlike female breast cancer, male breast cancer (MBC) is rare and not very well understood. Prospective data in the management of MBC are lacking and majority of treatment strategies are adopted from the established guidelines for breast cancer in women. The understanding of biology, clinical presentation, genetics, and management of MBC is evolving but there still remains a large knowledge gap due to the rarity of this disease. Older age, high estradiol levels, klinefelter syndrome, radiation exposure, gynecomastia, family history of breast cancer, BRCA2 and BRCA1 mutation are some of the known risk factors for MBC. Routine screening mammography is not recommended for asymptomatic men. Diagnostic mammogram with or without ultrasound should be considered if there is a suspicion for breast mass. Majority of men with early-stage breast cancer undergo mastectomy whereas breast conserving surgery (BCS) with sentinel lymph node biopsy (SLNB) remains an alternative option in selected cases. Since the majority of MBC are hormone receptor positive (HR+), adjuvant hormonal therapy is required. Tamoxifen for a total of 5 to 10 years is the mainstay adjuvant hormonal therapy. The role of neoadjuvant and adjuvant chemotherapy for early-stage breast cancer is uncertain and not commonly used. The role of gene recurrence scores like oncotype Dx and mammaprint is evolving and can be used as an aid for adjuvant chemotherapy. Majority of metastatic MBC are treated with hormonal therapy with either tamoxifen, gonadotropin-releasing hormone agonist (GnRH) with aromatase inhibitors (AI), or fulvestrant. Chemotherapy is reserved for patients with visceral crisis or rapidly growing tumors.

Cutaneous Disease as a Rare Presentation of Follicular Lymphoma Progression.

Follicular lymphoma, the third most common lymphoid malignancy, is considered indolent but incurable non-Hodgkin lymphoma. Isolated cutaneous relapse from follicular lymphoma is very uncommon, and very few cases have been reported in the literature. In this article, we present a case of an adult patient with a history of treated follicular lymphoma who presented with a skin lesion on his face and scalp. Further workup, including biopsy, led to the diagnosis of relapsed follicular lymphoma with no progression of disease elsewhere. We reviewed cases of follicular lymphoma, which relapsed with isolated cutaneous involvement. Treatment options for relapsed follicular lymphoma include observation, anti-CD 20 antibody alone, or in combination with chemotherapy, radio-immunotherapy, and stem cell transplantation in selected patients. Increased awareness of disease evolution and prompt diagnosis of this form of relapse from follicular lymphoma will improve the effectiveness and outcome of its management.

Renal limited ANCA-positive vasculitis: a rare manifestation of a rare disease.

Pauci-immune crescentic glomerulonephritis is the most common variant of rapidly progressive glomerulonephritis, accounting for approximately 80% of total cases. Most of the cases are associated with the presence of anti-neutrophil cytoplasmic antibody (ANCA) and are usually referred to as ANCA-associated vasculitis. A 68-year-old male with no previous renal history presented with complaints of shortness of breath, cough, and bilateral leg swelling for 2 weeks. Initial workup was significant for creatinine elevated at 2.9 mg/dL, blood urea nitrogen at 65 mg/dL, and glomerular filtration rate of 27 mL/min. Further workup was unremarkable for any significant abnormality. Subsequently patient's kidney function worsened, and temporary hemodialysis was started. Kidney biopsy was performed, which later came back significant for necrotizing arteritis, multifocal, with focal necrotizing and crescentic glomerulonephritis, pauci-immune type. High-dose corticosteroids were administered, and good clinical response was noticed. This is a very rare case of renal limited pauci-immune crescentic glomerulonephritis with annual incidence of 7 to 10 cases per million every year in the United States. The absence of involvement of other organs makes our case even rarer. Mortality is as high as 90% in untreated patients and aggressive therapy with glucocorticoids and cyclophosphamide or rituximab are the mainstay of treatment. The presence of significant renal impairment in the absence of other organs involvement in our patient makes it a very unique presentation of ANCA-positive vasculitis.

High-Grade Malignant Spindle Cell Sarcoma of the Pelvis Presenting With Bloody Diarrhea and Urinary Retention: A Rare Case With a Rare Presentation.

Soft tissue sarcomas (STSs) are rare malignant tumors originating from mesenchymal cells. Extremities are the most commonly affected anatomical sites, and majority of them present as a painless mass. We present a very interesting case of high-grade spindle cell sarcoma of the pelvis manifested as urinary retention and bloody diarrhea. A 68-year-old male presented to the emergency department with abdominal pain, inability to void urine, and bloody diarrhea. Straight urinary catheterization retrieved 900 mL of urine, and a Foley catheter was placed. All laboratory workup including complete blood count, complete metabolic panel, and urinalysis were within normal limits, but computed tomography (CT) of the abdomen and pelvis with contrast was remarkable for bilateral moderate hydronephrosis and a large 14 x 9.1 cm pelvic mass fistulizing into the rectum. To better identify the extent of disease, magnetic resonance imaging (MRI) with contrast was performed, which also revealed a similar large pelvic mass fistulizing into the rectum. Core needle biopsy of the mass was performed, which showed malignant spindle and epithelioid neoplasm with necrosis consistent with high-grade sarcoma. This is a very rare presentation of STS, and, to the best of our knowledge, only few similar cases have been reported thus far.

Bullous Skin Rash: A Rare Case of Palbociclib-Induced Dermatological Toxicity.

Palbociclib is an FDA-approved cyclin-dependent kinase inhibitor to treat hormone-positive, HER2-negative metastatic breast cancer. Severe skin toxicities are rare but important adverse events associated with these agents. Early detection of severe forms of skin lesions is crucial to permit the immediate discontinuation of palbociclib in order to avoid unacceptable risk level in the form of severe cutaneous toxicities like Steven-Johnson Syndrome. In such cases, palbociclib should be abruptly discontinued and an early aggressive support should be initiated. We here present a case of 50-year-old Caucasian female, who developed acute onset blistering skin lesions one to two weeks after she was started on palbociclib. We sought to report this case given the unusual toxicity and to emphasize the importance of identifying the acute onset of blistering skin lesions, regardless of their extension, should prompt awareness of their potential severity.

Atypical Takotsubo Cardiomyopathy Secondary to Combination of Chemo-Immunotherapy in a Patient With Non-Small Cell Lung Cancer.

Takotsubo cardiomyopathy (TC) also known as broken heart syndrome or stress-induced cardiomyopathy is a relatively rare and transient form of cardiomyopathy. It usually mimics myocardial infarction in terms of clinical and electrocardiographic presentation, but coronary angiography usually does not reveal any evidence of coronary artery occlusion. Even though many underlying causes including emotional, physical or physiological stress have been identified, the exact pathogenesis remains uncertain. Few of anticancer therapies have been reported as an emerging cause of TC; however, no strong evidence of immunotherapy causing cardiomyopathy. We here present a very rare case of atypical TC in a 57-year-old female with advanced stage non-small cell lung cancer who underwent combined cytotoxic chemotherapy and immunotherapy with carboplatin, pemetrexed and pembrolizumab.

Sinking Skin Flap Syndrome: Phenomenon of Neurological Deterioration after Decompressive Craniectomy.

Sinking skin flap syndrome is rare phenomenon that occurs in patients with large craniectomies. Alteration in normal anatomy and pathophysiology can result in wide variety of symptoms including altered mental status, hemodynamic instability, and dysautonomias. Management is largely conservative. We here present a case of a patient with large craniectomy who was admitted to our hospital with pneumonia. Later on, he developed worsening mental status and CT head revealed sinking skin flap with significant midline shift. This is a very rare case of neurological deterioration after craniectomies, commonly known as sinking skin flap syndrome. To our knowledge, only few cases have been reported so far.

Slipping Rib Syndrome in a Female Adult with Longstanding Intractable Upper Abdominal Pain.

Slipping rib syndrome is a rare cause of abdominal or lower chest pain that can remain undiagnosed for many years. Awareness among health care personnel of this rare but significant disorder is necessary for early recognition. Prompt treatment can avoid unnecessary testing, radiographic exposure, and years of debilitating pain. A 52-year-old female was evaluated for a 3-year history of recurrent abdominal and lower chest pain. Pain was sharp, primarily located in the lower chest and subcostal region left more than right, waxing and waning, nonradiating, and aggravates with specific movements. She underwent frequent physical therapies, treated with multiple muscle relaxants and analgesics with minimal improvement. Imaging modalities including CT scan, MRI, and X-rays performed on multiple occasions failed to signify any underlying abnormality. Complete physical examination was unremarkable except for positive hooking maneuver. Dynamic flow ultrasound of lower chest was performed which showed slipping of the lowest rib over the next lowest rib bilaterally left worse than right, findings consistent with slipping rib syndrome. Slipping rib syndrome is caused by hypermobility of the floating ribs (8 to 12) which are not connected to the sternum but attached to each other with ligaments. Diagnosis is mostly clinical, and radiographic tests are rarely necessary. Hooking maneuver is a simple clinical test to reproduce pain and can aid in the diagnosis. Reassurance and avoiding postures that worsen pain are usually helpful. In refractory cases, nerve block and surgical intervention may be required.

Absence of Left Circumflex Artery: A Rare Congenital Disorder of Coronary Arteries.

Congenital absence of left circumflex artery is a rare occurrence and very few cases have been reported in literature. It is a benign incidental finding; however some patients present with sudden onset chest pain mimicking acute coronary syndrome often resulting in detection of this rare anatomy on coronary angiography. Coronary computed tomography angiography is a relatively new noninvasive imaging modality which can be used to confirm this suspicion and diagnose this unique morphology reliably.

Necrotizing Autoimmune Myopathy: A Rare Variant of Idiopathic Inflammatory Myopathies.

Idiopathic inflammatory myopathies are an unusual group of myopathies with annual incidence of 1 in 100 000 people in the United States. Necrotizing autoimmune myopathy comprises only 16% of this group. It usually presents with severe proximal weakness, lower extremity weakness, and severe fatigue while very rarely does it present with dysphagia and respiratory muscle weakness. Statin use, cancer, and connective tissue disorder are the usual associated risk factors. Anti-signal recognition particle and 3-hydroxy-3-methylglutaryl-coenzyme A reductase are the 2 most common autoantibodies associated with necrotizing autoimmune myopathy. In this article, we present a very rare case of a 66-year-old male who presented with shortness of breath and dysphagia requiring intubation and ventilator support. Creatine kinase was 23 000, myoglobin was 7000, and ANA was positive. All other autoimmune and infectious workup including Lyme disease was unremarkable. Muscle biopsy turned out remarkable for necrotizing myopathy. No evidence of statin use, active malignancy, or connective tissue disease was found. He was treated with high-dose corticosteroids and a short course of intravenous immunoglobulin with very mild improvement in symptoms. Anti-signal recognition particle and 3-hydroxy-3-methylglutaryl-coenzyme A reductase could not be performed as the patient refused to pursue further medical testing. This is a very rare case of idiopathic inflammatory myopathy presenting with bulbar and respiratory muscle weakness requiring ventilator support.

Invasive Listeria monocytogenes Gastroenteritis Leading to Stupor, Bacteremia, Fever, and Diarrhea: A Rare Life-Threatening Condition.

Listeria monocytogenes is a gram-positive, rod-shaped organism that can cause serious infections such as meningitis, invasive gastroenteritis, and endocarditis. Every year 1600 people in the United States are affected, with significant mortality of 260 people annually. Listeria gastroenteritis has the third highest mortality rate among all the food-borne infection. Invasive listeriosis most commonly affect pregnant women, those in extremes of ages, people with comorbid diseases, and people with weakened immune response. In this article, we present a rare case of invasive Listeria gastroenteritis in an 83-year-old female with multiple comorbid conditions and past medical history of type 2 diabetes mellitus and multiple risk factors who was brought to the hospital with altered mental status. She had history of fever, abdominal pain, and watery diarrhea up to 14 episodes in 24 hours for the last 7 days. Her stool culture grew Listeria monocytogenes sensitive to penicillin. She was started on penicillin for 2 weeks. She had subsequently complete resolution of fever, diarrhea, and abdominal pain. High index of suspicion is the key to ensure timely initiation of appropriate empirical treatment in the setting of invasive gastroenteritis, especially in people who have high risk factors for listeriosis. We recommend raising awareness in the health care profession about invasive listeriosis in the need of time. Intravenous ampicillin or penicillin G is the treatment of choice, with meropenem as an alternative.

Metastatic Calcinosis of Aortic Valve Secondary to Renal Failure Mimicking Infective Endocarditis.

End stage renal disease has a list of consequences, cardiovascular being the most common. Inefficient dialysis can cause significant deposition of calcium all over the body, including heart valves making heart function impaired. We illustrate a case of 38-year-old female with end stage renal disease on peritoneal dialysis. The patient had been complaining of pain and swelling of the right hand for the last few months and had been seen by hand surgeon and was admitted electively for the biopsy of hand lesions. Before her planned surgery, she developed severe shortness of breath. Urgent echocardiogram revealed severe aortic regurgitation and large vegetation on the aortic valve. Infective endocarditis was suspected but blood cultures were negative for any microorganism and the patient did not meet the Duke criteria. Because of her hemodynamic instability immediate mechanical valve replacement surgery was performed. The pathology report showed extensive calcification and myxoid degeneration. No infectious agent was found. Later on, biopsy of her hand lesions showed extensive calcification with macrophages and giant cells. No atypia or malignancy was identified. This is a rare case of the metastatic calcinosis of aortic valve secondary to renal failure mimicking aortic valve infective endocarditis.