Rectal extranodal Rosai–Dorfman disease diagnosed by EUS‐FNA: A case report and review of the literature

Rosai–Dorfman disease (RDD), also known as “sinus histiocytosis with massive lymphadenopathy,” only rarely involves the gastrointestinal (GI) tract. Therefore, this unusual site of presentation can be challenging for the pathologist. We present a case of RDD manifesting as a rectal submucosal mass associated with rectal bleeding in a 54 year old woman. The diagnosis was made on cytologic preparations obtained through endoscopic ultrasound guided fine needle aspiration (EUS‐FNA) and subsequently confirmed by biopsy. To our knowledge, this is the first time extranodal RDD of the GI tract has been diagnosed by EUS‐FNA. A review of previously published cases of GI RDD is presented to increase awareness of this exceptional presentation. Diagn. Cytopathol. 2015;43:40–44. © 2014 Wiley Periodicals, Inc.     

Isolated intracranial Rosai Dorfman disease masquerading as meningioma: a case report

Isolated intracranial Rosai Dorfman disease (sinus histiocytosis with massive lymphadenopathy) is rare. We present a 26-year-old male who presented with left focal motor seizures becoming secondarily generalized of one-year duration. Clinically and radiologically patient was diagnosed to have a right parietal convexity meningioma. However on histopathological examination a final diagnosis of intracranial Rosai Dorfman disease was rendered.     

Rosai-Dorfman disease: A case report with extranodal thyroid involvement

Rosai-Dorfman Disease (RDD) or Sinus Histiocytosis with Massive Lymphadenopathy (SHML) is a rare disorder typically manifesting as enlarged lymph nodes with or without systemic involvement. These cases are often clinically misdiagnosed as lymphoma. Recognising this entity to distinguish it from lymphoma and other causes of histiocytosis is important because of different treatment modalities for these disorders. Extranodal involvement is also common, often with a particular predilection for the head and neck region. We report a rare case of Rosai-Dorfman Disease with both nodal and extranodal involvement in a 33-year-old woman. The patient had bilateral cervical lymphadenopathy and diffuse thyroid enlargement. Thyroid gland involvement in RDD diagnosed on fine needle aspiration cytology (FNAC) has rarely been reported in literature. FNAC is a useful and reliable tool for the diagnosis of RDD and the biopsy can be avoided in these patients, thus reducing inconvenience to patients.     

Erdheim‐Chester disease with prominent pericardial effusion

Erdheim‐Chester disease (ECD) is a rare, non‐Langerhans form of histiocytosis of unknown origin with distinct clinicopathologic and radiographic features. Reports detailing the cytology of ECD are rare. We describe a case of ECD with pericardial effusion. Cytologic examination revealed a hypercellular specimen composed of clusters and singly dispersed foamy macrophages with round nuclei and inconspicuous nucleoli, admixed with lymphocytes, eosinophils, and Touton‐type multinucleated giant cells. Immunostains for CD68 were strongly positive in the foamy macrophages while S100 and CD1a were negative. The presence of foamy histiocytes, multinucleated giant cells, lymphocytes and eosinophils are also features of other systemic histiocytic disorders, including Langerhans cell histiocytosis (LCH), Rosai‐Dorfman disease (RDD) and sarcoidosis. To the best of out knowledge, this is the first report describing the cytological features of ECD in a pericardial effusion. Diagn. Cytopathol. 2014;42:530–534. © 2013 Wiley Periodicals, Inc.     

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.     

Extranodale Rosai-Dorfman-Erkrankung (Sinushistiozytose mit massiver Lymphadenopathie)

Sinus histiocytosis with massive lymphadenopathy (SHML) was described in 1969 by Rosai and Dorfman as an benign disorder of the lymph nodes. Involvement of extranodal sites by SHML may occur as part of a generalized disease involving lymph nodes as well as independently of the lymph node status. The clinical course is mostly benign and indolent, but in rare cases the SHML can cause death. We report 5 cases of extranodal Rosai Dorfman disease (ENSHML). The lesions were localized in the soft tissue of the extremities, the head and the skeleton. Histopathological examination revealed a lymphoplasmacellular infiltration and numerous histiocytes with an eosinophilic cytoplasma and vesicular nuclei with basophilic nucleoli. The histiocytes showed emperipolesis with multiple lymphocytes within the cytoplasm and occasionally phagocytosis of other inflammatory cells. The histiocytes were immunohistochemically positive for S 100 protein and macrophage-specific antibodies, but in paraffin material negative for CD1a. We briefly discuss aspects of differential diagnosis of this lesion, too.     

A lethal intracranial Rosai‐Dorfman disease of the brainstem diagnosed at autopsy

Rosai‐Dorfman disease (RDD) is a benign histiocytic proliferative disorder characterized by the accumulation of histiocytes in lymph nodes and various other organs. RDD seldom involves the central nervous system, and cases of purely intracranial RDD are particularly rare. We report a case of purely intracranial RDD involving the brainstem that was diagnosed at autopsy. A 68‐year‐old woman visited our hospital because of visual disturbances and loss of energy. Magnetic resonance imaging revealed an obscure mass in the brainstem. Despite exhaustive work‐ups, the etiology of the intracranial mass remained unclear. The patient died of respiratory depression, and an autopsy was performed for pathological investigation. Macroscopically, a pink pale mass 2.5 cm in diameter was found in the brainstem, with no attachment to the dura. Histologically, it was composed of histiocytic cells with incorporation of small lymphocytes (emperipolesis). Immunohistochemical staining revealed that the cells were positive for CD68 and S100 and negative for CD1a, consistent with a diagnosis of RDD. Purely intracranial RDD is extremely rare and considered benign. To date, nine cases (including ours) have been reported. To our knowledge, this is the first case of intracranial RDD with autopsy. Although generally considered benign, RDD involving the brainstem might be lethal.     

Sinus histiocytosis with massive lymphadenopathy--a review of seven cases

Sinus histiocytosis with massive lymphadenopathy (SHML) also called as Rosai Dorfman disease is a rare histiocytic proliferative disorder of unknown etiology. Histological features currently define it. Persistent painless lymphadenopathy due to expansion of sinuses infiltrated with benign histiocytes and plasma cells and emperipolesis are the characteristic features of SHML. Our study includes seven cases (5 nodal and 2 extranodal) of SHML over a 5-year period whose slides and blocks were reviewed. IHC was performed on the main lesion, from a panel of S100, CD68, LCA, CD20, CD3, CD30, CD43, bcl2, cytokeratin and epithelial membrane antigen. In our series we have work up available in 7 cases out of which a detailed follow-up is available in 5 patients. Out of these 5 patients, 4 have a stable disease, while one developed histiocytic sarcoma after a gap of four years.     

Benign non-infectious causes of lymphadenopathy: A review of cytomorphology and differential diagnosis

Fine‐needle aspiration (FNA) biopsy is a quick, cost‐effective, and safe diagnostic modality that provides answers to guide treatment and management in patients with lymphadenopathy. In adults and children, there are a range of non‐neoplastic, non‐infectious etiologies for lymphadenopathy. These include reactive lymphoid hyperplasia (RLH), dermatopathic lymphadenitis (DLN), Rosai‐Dorfman disease, Castleman disease, Kimura disease, Kikuchi‐Fujimoto disease, and lymphadenopathy associated with autoimmune and metabolic/storage disease. Other benign nodal entities that may be encountered include lymph node infarction, foreign body reactions, drug reactions, extramedullary hematopoeisis, and benign inclusions. This article reviews the practical role of FNA in the evaluation of these benign, non‐infectious causes of lymphadenopathy and focuses on their cytomorphology and differential diagnosis. Diagn. Cytopathol. 2012; © 2012 Wiley Periodicals, Inc.     

Extra-nodal Rosai-Dorfman disease: a case report with thyroid involvement

Extra nodal involvement by Rosa?-Dorfman disease (RDD) is not rare but remains poorly described clinically and microscopically. We report a case of RDD involving the thyroid and revealed by a 15 mm cold nodule developed on an ancient goiter. The patient was a 53 year old North African woman. She also presented an involvement of cervical lymph nodes, respiratory tract and right kidney. Microscopic analysis of thyroid revealed a diffuse and dense infiltrate of large pale histiocytes with few features of lymphophagocytosis. To the best of our knowledge, this is the fifth case reported in the literature. In previous reported cases, thyroid RDD was associated to constant lymph node involvement (massive lymphadenopathy in 3 cases and occult in one case) and no other extra nodal localization except the respiratory tract in one case. The characteristic features of lymphophagocytosis must be searched with great care.     

Parvovirus B19 detected in Rosai-Dorfman disease in nodal and extranodal manifestations

Sinus histiocytosis with massive lymphadenopathy (SHML), also designated as Rosai-Dorfman disease (RDD), is a rare benign reactive lymphoproliferative disorder. It is defined by a characteristic histopathology with sinus histiocytosis and haemophagocytosis known as emperipolesis. In histiocytes S100 is strongly expressed, whereas CD1a staining typically is negative. The disease mainly manifests at a single lymph node; however, multilocular and extranodal affection can occur. Causative infectious agents, and virus infections in particular, have repeatedly been suspected, although until now the origin of the disease has been unclear. Four cases of RDD (two nodal sites and two extranodal upper respiratory tract sites) were analysed for parvovirus B19 (B19) infection by immunohistochemistry to detect B19 capsid proteins VP1/VP2. In all the four cases, huge numbers of B19-positive cells were partly detected. The positive cells were identified either as lymphocytes or, in one extranodal case, also as respiratory epithelial cells. This is the first report of B19 infection in RDD tissue, indicating that B19 may be associated with the pathogenesis of SHML.     

Rhinoscleroma associated with Rosai-Dorfman reaction of regional lymph nodes

Rhinoscleroma is an uncommon chronic, destructive infection of the respiratory mucosa caused by Klebsiella rhinoscleromatis. This coccobacillus can be found in the typical histiocytes, the Mikulicz cells . Extranasal and nodal involvement in this disease is rare, but documented. Rosai–Dorfman disease or sinus histiocytosis with massive lymphadenopathy is also a rare, non-hereditary disorder. Bilateral cervical lymphadenopathy with emperipolesis, as the main histological characteristic, is the most common presentation. It can also occur extranodally. We report a case of rhinoscleroma occurring in a 62-year-old woman since 1984, who developed parotid gland and lymph node involvement. The changes in the nasal mucosa and the parotid gland showed chronic inflammation with Mikulicz cells. In the lymph nodes, features characteristic of Rosai–Dorfman disease were seen. Taking into consideration the literature dealing with both of these diseases, we discuss that Rosai–Dorfman disease could be a special type of lymph node reaction and is not necessarily an entity of its own. Therefore, it should be known as Rosai–Dorfman lymph node reaction. Furthermore, there seems to be an interconnection between Rosai–Dorfman disease and rhinoscleroma.     

Extranodal Rosai-Dorfman disease involving appendix and mesenteric nodes with a protracted course: report of a rare case lacking relationship to IgG4-related disease and review of the literature

Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare disease of unknown etiology that typically presents as nodal disease in young children. However, it also can present in various extranodal sites and can be difficult to recognize if not considered in the differential diagnosis. Here, we report a case of appendix involvement by extranodal RDD, which occurred in a 69-year-old woman with a long duration of 12 years for intermittent right lower quadrant pain. The patient underwent a right hemicolectomy for a clinical diagnosis of appendiceal cancer. A mixed inflammatory infiltration of mature lymphocytes, plasma cells and histiocytes exhibiting emperipolesis were indentified. Other areas had storiform fibrosis and sclerosis admixed with numerous plasma cells. These histologic features combination with immunoreactivity for CD68 and S100 protein were indicative of a diagnosis of extranodal RDD. We discuss the clinical, pathologic findings as well as differential diagnoses and consideration of a possible relationship of this entity to IgG4-related lesion.     

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。     

The digestive system manifestations of Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy): review of 11 cases

Rosai-Dorfman disease (RDD), originally described as sinus histiocytosis with massive lymphadenopathy, is a rare histiocytic proliferative disorder with a distinctive microscopic appearance. Formerly thought to be a process limited to lymph nodes, involvement by RDD has now been documented in many organ systems, notably bone, skin and soft tissue, central nervous system, eye and orbit, and upper respiratory tract. The digestive system, however, is affected only exceptionally, as reflected by the existence of only a handful of individual case reports. In this article, we report 11 patients in which the disease involved intestinal tract, liver, or pancreas, and describe the most salient clinicopathologic features. The specific site of involvement within the digestive system was gastrointestinal tract in 5, liver in 5, and pancreas in 1. Most patients also had evidence of disease in other extranodal sites, as well as in 1 or more lymph node groups.     

Case report of Rosai–Dorfman disease

This case report discusses the presentation of Rosai–Dorfman disease in a 4 year old female patient, who presented with bilateral level V lymphadenopathy of the cervical neck. The histopathology demonstrated numerous histiocytes, with characteristic emperipolesis. No granulomas or necrosis were identified. Micro-organisms were not identified on special stains, nor on culture. The patient was under observation and spontaneous remission occurred after six months.     

SINUS HISTIOCYTOSIS WITH MASSIVE LYMPHADENOPATHY (RO SAI AND DORFMAN) AND SIGNIFICANT SKIN INVOLVEMENT

Clinicopathological features of this female patient described here, showing unusual and extremely marked sinus histiocytosis of lymph nodes with considerable systemic lymphadenopathy, accompanying fever as well as acceleration of erythrocyte sedimentation rate fairly well coincided with the symptoms of "Sinus Histiocytosis With Massive Lymphadenopathy" (Rosai and Dorfman). The onset of the present case was in 1966 when the patient was 10 years of age, and she has been followed-up for over 10 years. While persisting to display active clinical manifestations, immunological abnormality with thymus involution was demonstrated — deterioration of cell-mediated immunity, but with non-remarkable humoral immunological data, except for hypergamma-globulinemia with elevation of IgG. In 1973 lymphadenopathy as well as skin eruption extended over the extremities and abnormalities of hematological and serological nature began to improve and at the present date the patient is uneventful. This is the first recorded case of "Sinus Histiocytosis With Massive Lymphadenopathy" (Rosai and Dorfman) in Japan. Considerable skin involvement in the upper and lower extremities was a significant feature and unique in this case.     

Rosai-Dorfman disease of the breast: a mimic of breast malignancy

Rosai-Dorfman disease (RDD) or sinus histiocytosis with massive lymphadenopathy (SHML) is primarily a nodal-based, idiopathic, benign proliferative disorder of histiocytes with 43% of these cases also involving extranodal sites. The breast is an unusual site of occurrence of RDD. We report two cases of this exceptional event. The first represents an intramammary nodal Rosai-Dorfman disease, while the second is an extranodal disease with sole involvement of the breast. In both, the possibility of malignancy was raised. Histological examination of the two breast lesions revealed sheets of characteristic large histiocytes displaying emperipolesis, a microscopic hallmark of this disease. Immunohistochemical and ultrastructural studies were also performed; the former showed cytoplasmic staining of histiocytes for S-100 protein, while histiocytes that engulfed lymphocytes and plasma cells were identified on electron microscopy.