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1.
Acral Calcified Vascular Leiomyoma: Report of 3 Cases and Literature Review.
Suárez-Peñaranda, JM, Pita da Veiga, G, Pérez-Muñoz, N, Fernández-Figueras, MT
The American Journal of dermatopathology. 2021;(10):732-735
Abstract
Angioleiomyomas are benign neoplasms, which usually present as solitary, slow-growing nodules on the skin of lower extremities, but acral location on the hands or feet is unusual. Yet, microscopically, they may show many histopathological variants, focal calcification is uncommon. Extensive calcification masquerading the real nature of the tumor has been rarely reported, the term acral calcified leiomyoma having been proposed for this entity. This change is more often in distal locations and has been interpreted as degenerative in nature, probably related to repetitive minor trauma. We report 3 examples of this unusual condition on the feet of 2 male and one female subjects (aged, 68, 69, and 80 years) and make a review of the 31 cases available in the literature. Two of our cases are associated with highly uncommon features, such as transepidermal calcium elimination and concomitant calcaneal spur.
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2.
Primary cutaneous malignant perivascular epithelioid cell tumor: Case of a rare tumor with review of the literature.
Cole, DW, Menge, TD, Renati, S, Bresler, SC, Patel, RM, Fullen, DR, Hamp, LM
Journal of cutaneous pathology. 2021;(8):1088-1093
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Abstract
Perivascular epithelioid cell tumors (PEComas) are mesenchymal neoplasms with characteristic epithelioid or spindled cytomorphology that typically grow around blood vessels. These tumors are phenotypically and immunohistochemically distinct, expressing markers of both melanocytic and smooth muscle differentiation. Herein, we describe a case of histopathologically malignant cutaneous PEComa without metastatic spread, with review of the pertinent literature. Telescoping punch biopsy demonstrated an epithelioid neoplasm with marked atypia, hypercellularity, and increased mitotic activity. Immunohistochemical stains for HMB-45, NK1-C3, PGP9.5, MiTF, CD10, and CD68 were positive within tumor cells. In addition, there was diffuse expression of caldesmon and focal cytoplasmic staining for smooth muscle actin on the excision specimen. The patient underwent treatment with surgical excision with adjuvant radiation and surveillance computed tomography (CT). The patient remains free of recurrence or metastatic disease after 10 months of follow-up. To our knowledge, this is only the third reported case of a malignant cutaneous PEComa reported in the literature to date.
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3.
Cholesterotic fibrous histiocytoma: Case report and literature review.
Lukach, AJ, Adams, AK, Werling, RW
Journal of cutaneous pathology. 2021;(7):958-960
Abstract
Cholesterotic fibrous histiocytoma is a particularly rare variant of dermatofibroma that is distinguished histopathologically by the presence of prominent cholesterol deposits within the lesion. We report the case of a 54-year-old male with poorly controlled hyperlipidemia who presented with a firm violaceous papule on the right shin, diagnosed as a cholesterotic fibrous histiocytoma. We also review and summarize the existing literature on this uncommon entity.
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4.
Dermatomyositis in a patient undergoing nivolumab therapy for metastatic melanoma: a case report and review of the literature.
Kosche, C, Stout, M, Sosman, J, Lukas, RV, Choi, JN
Melanoma research. 2020;(3):313-316
Abstract
Checkpoint inhibitor immunotherapy is a transformative treatment for advanced malignancies, but can be associated with numerous immune-related adverse events (irAEs). The majority of irAEs include those that closely resemble known cutaneous and neurocutaneous autoimmune or autoinflammatory diseases, such as scleroderma, psoriasis, and dermatomyositis. We present the case of a 63-year-old man with metastatic melanoma undergoing treatment with nivolumab who developed significant motor weakness, paresthesias of both hands, swollen fingers, and a pruritic rash over the face, chest, and upper back after two cycles. Creatine kinase was elevated. Electromyography revealed a myopathic pattern, muscle biopsy of the deltoid revealed an inflammatory myopathy, and skin biopsy showed interface dermatitis. There were no detectable autoantibodies except positive antinuclear antibody. He was diagnosed with immunotherapy-induced dermatomyositis, nivolumab was held, and he was treated with oral prednisone and intravenous immunoglobulin with overall improvement in myopathic and cutaneous symptoms. Dermatomyositis is an inflammatory myopathy with a characteristic dermatologic presentation that can occur spontaneously, as a paraneoplastic phenomenon, or as a drug reaction. This is the second known case of nivolumab-induced dermatomyositis. A review of the literature revealed seven total cases of immunotherapy-induced dermatomyositis. Functionally disabling autoimmune adverse effects of this severity would frequently persuade providers to discontinue immunotherapy in patients with metastatic disease.
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5.
Blue rubber bleb nevus syndrome with the complication of intussusception: A case report and literature review.
Hu, Z, Lin, X, Zhong, J, He, Q, Peng, Q, Xiao, J, Chen, B, Zhang, J
Medicine. 2020;(28):e21199
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Abstract
RATIONALE Blue rubber bleb nevus syndrome (BRBNS) is an extremely rare disorder characterized by multifocal venous malformations involving various organs such as the skin and gastrointestinal tract. Severe complications of BRBNS, such as intussusception, volvulus, and intestinal infarction are rarer and require surgery. This report describes a 33-year-old male of BRBNS complicated with intussusception that was successfully diagnosed and treated with surgery. PATIENT CONCERNS A 33-year-old Chinese man presented with persistent, colicky pain accompanied by nausea, abdominal distension, and dizziness. The patient presented with sporadic bluish nodules on his skin involving his head, neck, thorax, abdomen, and planta pedis. DIAGNOSES BRBNS with the complication of intussusception. INTERVENTIONS An emergency laparotomy was performed, and postoperative management included blood transfusions and oral iron supplementation for 2 weeks. OUTCOMES The patient's postoperative course of hospitalization was uneventful. During the 4-month follow-up, the patient showed no signs of intussusception recurrence. LESSONS Patients diagnosed with BRBNS who present with acute abdominal pain and distension should raise suspicion for the presence of intussusception, which requires emergent surgical intervention.
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6.
Autoimmune diabetes induced by PD-1 inhibitor-retrospective analysis and pathogenesis: a case report and literature review.
Gauci, ML, Laly, P, Vidal-Trecan, T, Baroudjian, B, Gottlieb, J, Madjlessi-Ezra, N, Da Meda, L, Madelaine-Chambrin, I, Bagot, M, Basset-Seguin, N, et al
Cancer immunology, immunotherapy : CII. 2017;(11):1399-1410
Abstract
Anti-PD-1 antibody treatment is approved in advanced melanoma and provides median overall survival over 24 months. The main treatment-related side effects are immune-related adverse events, which include rash, pruritus, vitiligo, thyroiditis, diarrhoea, hepatitis and pneumonitis. We report a case of autoimmune diabetes related to nivolumab treatment. A 73-year-old man was treated in second line with nivolumab at 3 mg/kg every two weeks for metastatic melanoma. At 6 weeks of treatment, he displayed diabetic ketoacidosis. Nivolumab was withheld 3.5 weeks and insulin therapy was initiated, enabling a normalization of glycaemia and the disappearance of symptoms. Laboratory investigations demonstrated the presence of islet cell autoantibodies, while C-peptide was undetectable. Retrospective explorations on serum banked at week 0 and 3 months before the start of nivolumab, already showed the presence of autoantibodies, but normal insulin, C-peptide secretion and glycaemia. Partial response was obtained at month 3, and nivolumab was then resumed at the same dose. The clinical context and biological investigations before, at and after nivolumab initiation suggest the autoimmune origin of this diabetes, most likely induced by anti-PD-1 antibody in a predisposed patient. The role of PD-1/PD-L1 binding is well known in the pathogenesis of type 1 diabetes. Therefore, this rare side effect can be expected in a context of anti-PD-1 treatment. Glycaemia should be monitored during PD-1/PD-L1 blockade. The presence of autoantibodies before treatment could identify individuals at risk of developing diabetes, but systematic titration may not be relevant considering the rarity of this side effect.
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A case series and literature review of Merkel cell carcinoma metastasizing to pancreas.
Ghouri, YA, Krishna, SG, Kundu, UR, Bhutani, MS, Lee, JH, Ross, WA
Digestive diseases and sciences. 2015;(6):1805-12
Abstract
BACKGROUND Merkel cell carcinoma is a rare aggressive tumor arising from the mechanoreceptors of the epidermis with a relative higher mortality rate stage for stage than melanoma. Microscopically, the cells appear similar to small cell lung cancer, but they specifically stain positive for CK20 and are negative for TTF-1. It is rarely known to metastasize to the pancreas. AIMS To report four cases of Merkel cell carcinoma metastasizing to pancreas and compare them to previously reported patients. METHODS We performed a retrospective review of all patients who underwent endoscopic ultrasound with fine-needle aspiration (EUS-FNA) for a suspected pancreatic lesion between January 2004 and December 2012. We reviewed other reported cases with a literature search using PubMed, Embase, and Scopus. RESULTS Four male patients with mean age of 66 years were found to have metastatic disease in the pancreas on average 29 months after initial diagnosis of MCC. Two cases were diagnosed with EUS-FNA and two with PET-CT. Three patients had multifocal pancreatic involvement which has not been previously described. All four patients died within 3-9 months following tumor spread to the pancreas. Merkel cell carcinoma rarely metastasizes to the pancreas with only 10 cases being described in the medical literature. CONCLUSIONS EUS-FNA is an effective tool that can be utilized in diagnosing pancreatic masses. Differentiating metastatic pancreatic tumors, especially Merkel cell carcinoma from primary pancreatic tumor is useful as systemic therapy is an option in pancreatic adenocarcinoma, but is ineffective in metastatic Merkel cell carcinoma.
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8.
Endocrine side-effects of anti-cancer drugs: the impact of retinoids on the thyroid axis.
Graeppi-Dulac, J, Vlaeminck-Guillem, V, Perier-Muzet, M, Dalle, S, Orgiazzi, J
European journal of endocrinology. 2014;(6):R253-62
Abstract
Bexarotene (Targretin), approved since 1999 as a second-line treatment for late stage cutaneous T-cell lymphomas, has been shown to induce significant hypothyroidism through TSH suppression. This review revisits, through a case report, mechanisms by which rexinoids repress the expression of TSHB gene as well as αTSH and TRH genes. It appears that rexinoids suppress TSH independently from tri-iodothyronine. Bexarotene also differently affects the gene expression of deiodinases 1 and 2 as well as the peripheral clearance of thyroxine. These data might open new ways of research on the potential interaction between thyroid axis and endogenous rexinoids.
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9.
QT interval prolongation and torsades de pointes in a patient undergoing treatment with vorinostat: a case report and review of the literature.
Lynch, DR, Washam, JB, Newby, LK
Cardiology journal. 2012;(4):434-8
Abstract
Vorinostat is a histone deacetylase inhibitor used in the treatment of recurrent or persistent cases of cutaneous T-cell lymphoma (CTCL). A retrospective review of 116 patients from phase I and II clinical trials who had a baseline and at least one subsequent ECG revealed that four patients had Grade 2 and one patient had Grade 3 QTc interval prolongation; however, a MEDLINE search found no reported cases of torsades de pointes (TdP) in patients treated with vorinostat. We describe the case of a 49 year-old male with a history of CTCL actively undergoing treatment with vorinostat. During day 1 of hospitalization, he developed a pulseless polymorphic ventricular tachycardia requiring resuscitation. He was found to have a QTc of 826 ms. Following correction of potassium and magnesium, QTc gradually decreased and no further ventricular arrhythmia was noted. Other factors implicated in this case included concurrent sertraline and doxepin therapy (both drugs have been associated with the development of TdP in overdose). The mechanism of development of TdP in this patient is postulated to be related to vorinostat use in combination with hypokalemia and concomitant treatment with medications associated with QTc prolongation. This case highlights the importance of post-market surveillance.
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10.
Focal blue nevus of the eyelid margin (mucocutaneous junction): a report of a unique case with a review of the literature.
Kirzhner, M, Jakobiec, FA, Kim, N
Ophthalmic plastic and reconstructive surgery. 2011;(5):338-42
Abstract
PURPOSE To describe the first isolated and focal benign blue nevus of the eyelid margin. METHODS Review of clinical, histopathologic, and immunohistochemical characteristics and relevant literature. RESULTS A 93-year-old Caucasian woman with a flat, irregular, and deeply pigmented black growth of the left upper eyelid margin of unknown duration underwent a full-thickness eyelid excisional biopsy. Microscopically, a population of loosely aggregated, mitotically inactive, heavily pigmented oval-to-elongated spindle dermal cells that paralleled the epithelium was seen. MART-1 and HMB-45 immunostaining of premelanosomes could not distinguish between melanocytes and melanophages. The more specific microphthalmia-associated transcription factor stained the nuclei of the subepithelial melanocytes before and after bleaching of the cytoplasmic melanin. The patient did not have Carney complex. No residual pigmentation or lesional recurrence has been noted during 6 months of follow up. CONCLUSIONS A blue nevus of the preorbicularis eyelid skin is extremely rare, and still more uncommon is such a lesion of the eyelid margin. Careful microscopic and immunohistochemical evaluation is necessary to establish the proper diagnosis. Wide local excision should be performed due to concern about a more common and serious melanomatous nodule. A differential diagnosis of other pigmented lesions in this location is offered.