Extranodal Rosai–Dorfman disease involving the heart: report of two cases

Sinus histiocytosis with massive lymphadenopathy (Rosai–Dorfman disease) is a rare disease that typically occurs in lymph nodes. While many body sites have been reported to be involved in extranodal manifestations of the disease, the cardiovascular system has been largely absent in this literature. We report two cases of Rosai–Dorfman disease that involves the heart. Case 1 was a 40-year-old man with chronic myelomonocytic leukemia who was incidentally noted to have Rosai–Dorfman disease on autopsy after succumbing to respiratory failure in the setting of adult respiratory distress syndrome. Case 2 was a 57-year-old woman known to have Rosai–Dorfman disease involving mediastinal lymph nodes and found to have a right atrial mass on workup for atypical chest pain. Both cases showed a similar histologic picture of large, multinucleated histiocytes with immunoreactivity to S100, emperipolesis, and marked plamacytosis. This study expands our knowledge of organs involved in extranodal Rosai–Dorfman disease.     

Rosai—Dorfman病

Ｒｏｓａｉ和Ｄｏｒｆｍａｎ(196 9)最先报道 4例窦性组织细胞增生症伴大块状淋巴结病 (ｓｉｎｕｓｈｉｓｔｉｏｃｙｔｏｓｉｓｗｉｔｈｍａｓｓｉｖｅｌｙｍ ｐｈａｄｅｎｏｐａｔｈｙ ,ＳＨＭＬ) ,临床主要表现为大块状颈淋巴结肿大 ,伴低热、白细胞增多和高γ球蛋白血症。淋巴结肿大持续时间虽长 ,但临床呈良性经过。 1972年 ,他们又复习 30例ＳＨＭＬ ,加上前述 4例作总结分析 ,从而确立这一独特的疾病单元 ,但病因不明。随着病理学技术的进步 ,ＳＨＭＬ病例报道也不断增多 ,从而对其本质的认识也赋予新的内涵。约 4 3%ＳＨＭＬ至少可累…     

累及骨和软骨Rosai–Dorfman病2例报告并文献复习

目的:探讨2例累及骨和软骨的结外罗道(Rosai–Dorfman)病的临床病理特征、诊断及鉴别诊断。方法:复习分别位于右胫骨近端及甲状软骨的2例Rosai–Dorfman病患者的临床和影像学资料,行组织学观察及免疫组织化学分析,并复习相关文献。结果:39岁女性,右胫骨占位及38岁男性,甲状软骨肿物。影像学示前者右胫骨上段溶骨性骨质破坏;CT示后者甲状软骨前实性占位,与甲状软骨界限不清。光镜下前者病变在破碎骨小梁间生长,后者病变包绕并侵犯甲状软骨,并在软骨化骨骨小梁间侵袭性生长。低倍镜下组织细胞显著增生,与浸润的淋巴细胞、浆细胞形成明暗相间的结构,部分组织细胞体积较大,呈多边形或椭圆形;胞浆淡嗜酸性或空亮,泡状核,可见小核仁;部分胞浆内见吞噬完整的淋巴细胞和(或)浆细胞、中性粒细胞等。免疫组织化学标记组织细胞表达S–100蛋白和CD68,不表达CD1a。结论:累及骨和软骨的Rosai–Dorfman病罕见,临床及影像学检查均容易误诊。组织学形态及免疫组织化学检查是确诊的唯一依据。     

Case report of orbital lymphoma associated with polycystic disease: a coincidence?

The most common known extra renal malignancy associated with polycystic kidney disease (PKD) is of pancreatic origin. Here we report a case of orbital lymphoma in a patient with PKD. This might just be a co-incidence or there might be some genetic interaction.     

Sinus histiocytosis with massive lymphadenopathy (Rosai Dorfman disease): evidence for a dendritic cell derivation?

Sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman disease is a rare histiocytic disorder of unknown origin. Both dendritic cell and monocyte-macrophage lineage have been considered as the origin of the histiocytes that are classical of the disorder. We analyzed seven cases of Rosai-Dorfman disease to determine the immunophenotypic profile of these cells. Immunohistochemical analysis was undertaken by using: (a) fascin as a novel mature dendritic cell marker; (b) S-100 protein; (c) CD68 (both KP1 and PGM1) as macrophage related markers; (d) CD79a and (e) CD3. The Rosai-Dorfman histiocytes exhibited strong cytoplasmic staining for fascin in all the cases and demonstratedformation of a meshwork of fine dendritic processes emanating from the cell cytoplasm. S-100 protein was uniformly expressed in all the cases. Expression of both KP1 and PGM1 epitopes of CD68 was found to be weak and variable. The phagocytosed lymphocytes were composed of an admixture of both B and T-lymphocytes. The characteristic expression pattern of the histiocytes for fascin along with co-expression of S-100 protein and a consistently weaker and variable expression of macrophage-lineage markers point more towards a dendritic cell ontogeny of these cells. Further, abundant fascin expression and presence of dendritic processes indicate a differentiated or mature dendritic cell phenotype for these cells.     

Mucormycosis after Coronavirus disease 2019 infection in a heart transplant recipient – Case report and review of literature

Mucormycosis is an invasive fungal infection (IFI) due to several species of saprophytic fungi, occurring in patients with underlying co-morbidities (including organ transplantation). During the ongoing Coronavirus disease 2019 (COVID-19) pandemic, there have been increasing reports of bacterial and fungal co-infections occurring in COVID-19 patients, including COVID-19 associated pulmonary aspergillosis (CAPA). We describe a case of mucormycosis occurring after COVID-19, in an individual who received a recent heart transplant for severe heart failure. Two months after heart transplant, our patient developed upper respiratory and systemic symptoms and was diagnosed with COVID-19. He was managed with convalescent plasma therapy and supportive care. Approximately three months after COVID-19 diagnosis, he developed cutaneous mucormycosis at an old intravascular device site. He underwent extensive surgical interventions, combined with broad-spectrum antifungal therapy. Despite the aggressive therapeutic measures, he died after a prolonged hospital stay. In this case report, we also review the prior well-reported cases of mucormycosis occurring in COVID-19 patients and discuss potential mechanisms by which COVID-19 may predispose to IFIs. Similar to CAPA, mucormycosis with COVID-19 may need to be evaluated as an emerging disease association. Clinicians should be vigilant to evaluate for invasive fungal infections such as mucormycosis in patients with COVID-19 infection.     

Granuloma annulare: an elastic tissue disease? Case report and literature review

Granuloma annulare (GA) is a condition characterized by the presence of palisading granulomas usually in the dermis. Traditionally, the histopathological changes are described as consisting of focal degeneration of dermal collagen fibers. However, no convincing evidence for such alteration is found in the literature. A histopathological study was done to ascertain the nature of the dermal abnormality. Ten skin biopsies showing lesions of GA were studied by light and electron microscopy. On light microscopy, all lesions showed focal dermal degeneration with near total loss of elastic fibers. Ultrastructural examination in nine cases demonstrated degenerated elastic fibers with loss of peripheral microfibrils and abnormal elastic matrix. The degenerated elastic fibers were surrounded by intact collagen fibers. These findings show that the main alteration in GA is elastic fiber degeneration and strongly suggest that the primary target leading to the development of this disorder is injury to the elastic tissue.     

Interstitial 16p13.3 microduplication: Case report and critical review of genotype–phenotype correlation

We report on a patient with a recognizable phenotype of intellectual disability, multiple congenital anomalies, musculoskeletal anomalies and craniofacial dysmorphisms, carrying a de novo 0.4 Mb duplication of chromosome region 16p13.3 detected by SNP-array analysis. In addition, myopia, microcephaly and growth retardation were observed. The causal 16p13.3 duplication is one of the smallest reported so far, and includes the CREB binding protein gene (CREBBP, MIM 600140), whose haploinsufficiency is responsible for the Rubinstein–Taybi syndrome, and the adenylate cyclase 9 gene (ADCY9, MIM 603302). By comparing the clinical manifestations of our patient with those of patients carrying similar rearrangements, we confirmed that 16p13.3 microduplications of the Rubinstein–Taybi region result in a recognizable clinical condition that likely represents a single gene disorder. In addition, our case allowed us to define with more precision the smallest region of overlap (SRO) in all patients reported so far, encompassing only the CREBBP gene, and is useful to confirm and further define the phenotypic characteristics due to duplication of the CREBBP gene, being the first case of interstitial duplication with microcephaly and growth defects reported to date.     

Adult Hirschsprung’s disease: report of four cases

Adult Hirschsprung’s disease (HD) is a rare motor disorder of the gut that is frequently misdiagnosed as refractory constipation. The primary pathogenic defect in adult HD is identical to that seen in infancy or childhood, and is characterized by the total absence of intramural ganglion cells of the submucosal (Meissner) and myenteric (Auerbach) neural plexuses in the affected segment of the bowel. Ninety-four percent of HD cases are diagnosed before the patient reaches 5 years of age, however, on rare occasion, mild cases of HD may go undiagnosed until he or she reaches adulthood. In this study, we describe four cases of adult HD with a history of longstanding recurrent constipation, relieved by laxatives, and presenting to the Department of Gastrointestinal Surgery with progressive abdominal distention, colicky pain or acute intestinal obstruction. Barium enema or computed tomography revealed a grossly distended proximal large colon with fecal retention. Intraoperative frozen section biopsy was performed in all cases and showed aganglionosis of the stenotic segment and a normal distal rectum. In all cases, patient symptoms were completely resolved and there were no complications arising immediately post-surgery or at one-year follow-up. Adult HD should be considered in the differential diagnosis of cases where adult patients present with chronic constipation or even acute intestinal obstruction. The modified one-stage Martin-Duhamel or Rehbein’s procedure is a feasible surgical option for treating cases of adult HD involving a segment or the entire bowel.     

Parachordoma or chordoma periphericum? Case report of a tumor of the thoracic wall

We report the findings from an aspiration biopsy and resection of a chordoma-like tumorous mass in the wall of the thorax of a 36-yr-old man with immunohistochemical, ultrastructural, and cytogenetic studies. The 4-cm oval tumor was an incidental finding on physical examination, and no other lesions were identified after comprehensive radiologic studies. The aspirate was composed of sheets and nests of cells with distinct borders in a myxoid and fibrillary extracellular matrix. The neoplastic cells were uniform and round or polygonal with abundant pale blue vacuolated cytoplasm and small round, central or eccentric nuclei. On electron microscopy, mitochondrial rough endoplasmic reticulum complexes were seen in neoplastic cells. These features were similar to those of a conventional chordoma. However, the cytogenetic pattern, 43, XY ,-1, -2, der (5)t(1p;5q), -6, add(8p) ,add(10q), was not typical. In addition, the neoplastic cells were positive for vimentin, S-100, AE1/AE3, CAM 5.2, and CK 19; were focally positive for EMA and smooth muscle actin; and were negative for cytokeratin 1 and 10 (34 beta E12), CK 7, CK 8 (35H 11B), CK 17, and CK 20. The cytogenetic and immunohistochemical patterns were different from conventional chordoma and its peripheral counterpart, chordoma periphericum, suggesting the diagnosis of parachordoma. To the best of our knowledge, this is the first report of fine-needle aspiration of this newly defined and rare entity.     

Case report: Hepatitis A preceding Guillain-Barré syndrome

A case of acute hepatitis A with Guillain-Barré Syndrome subtype AMAN (acute motor axonal neuropathy) in a 17-year-old male is reported. Serum and cerebrospinal fluid were positive for anti-hepatitis A virus (HAV) IgM, IgG, and IgA. The onset of the syndrome was evident in week 3 of illness. The remarkably high titers of serum anti-HAV IgG appeared unique to a hepatitis A patient with the syndrome. Phylogenetic analysis of the HAV genome detected in the serum and feces revealed genotype IIIA, circulating commonly in Pune, western India.     

Non-alcoholic fatty liver disease–a chronic disease of the 21st century

Non-alcoholic fatty liver disease (NAFLD) comprises a spectrum of metabolic states ranging from simple steatosis o inflammation with associated fibrosis to cirrhosis. Though accumulation of hepatic fat is not associated with a ignificant increase in mortality rates, hepatic inflammation is, as this augments the risk of terminal liver disease, i.e., cirrhosis, hepatic decompensation (liver failure) and/or hepatocellular carcinoma. Disease progression is usually low, over a decade or more and, for the most part, remains asymptomatic. Recent estimates suggest that the global prevalence of NAFLD is high, about one in four. In most cases, NAFLD overlaps with overweight, obesity, cardiovascular disease and the metabolic syndrome with numerous contributing parameters including a dysregulation of adipose tissue, insulin resistance, type 2 diabetes, changes in the gut microbiome, neuronal and hormonal dysregulation and metabolic stress. NAFLD is diagnosed incidentally, despite its high prevalence. Non-invasive maging techniques have emerged, making it possible to determine degree of steatosis as well asfibrosis. Despite this, he benefit of routine diagnostics remains uncertain. A better understanding of the (molecular) pathogenesis of NAFLD is needed combined with long-term studies where benefits of treatment can be assessed to determine cost benefit ratios. This review summarizes the current state of knowledge and possible areas of treatment.     

Using the Trager® approach to reduce the impact of foot drop: Case report

This case report illustrates how a person with a complex series of injuries and surgeries can regain a capacity of hope and healing utilizing the Trager® Approach. The client presents with a Foot Drop on the right side, severe chronic pain and hopelessness, and a desire and willingness to feel better. He survived a forty-foot fall from a tree, twenty years ago, and has lived with extensive repair to his spine. He has been living with pain from the limited mobility of spinal rods, vertebral fusions, and more recent hip replacements. Now, in an aging body, he seeks alternative care after being told, he “will just have to live with his pain”. After a series of sessions by a Senior Trager Practitioner, his mobility, functional status and sleep have improved; and his pain has decreased significantly.     

Successful treatment of recurrent Kimura’s disease with radiotherapy: a case report

Kimura’s disease is a rare, chronic inflammatory disorder affecting the skin and subcutaneous tissue, predominantly in the head and neck region. It is benign but may be recurrent and difficult to eradicate. A case of recurrent Kimura disease in a 53-year-old man was reported. Radiation therapy was performed for recurrence after surgical excision twice. The prescribed radiation dose was 36 Gy. With a follow-up time of 68 months, the patient was free of the disease.