Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019625 (Rosai-Dorfman disease)
 763 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder with massive lymphadenopathy. We here describe RDD of a neonate who presented with paleness and hepatosplenomegaly but not lymph-node swelling. Routine laboratory studies showed anemia, thrombocytopenia, and an elevated value of gamma-glutamyl transpeptidase. Histological examination of the liver revealed a proliferation of histiocytes with abundant eosinophilic cytoplasm, which were positive for S-100 protein and CD68 but not CD1a and did not reveal Birbeck granules. Radiological studies showed hepatosplenomegaly and a narrowing of the hepatic vein, which might have contributed to hypersplenism resulting in anemia and thrombocytopenia. This case is thought to be congenital RDD without lymphadenopathy.
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PMID:Congenital Rosai-Dorfman disease without lymphadenopathy. 1469 91

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.
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PMID:[Extranodal Rosai Dorfman disease (sinus histiocytosis with massive lymphadenopathy). Report of 5 cases]. 1513 4

Here we describe a case of Rosai-Dorfman Disease (RDD) in a 25-year-old female patient from Turkey who was previously misdiagnosed with Toxoplasma Lymphadenitis, and review the manifestations and treatment of this rare entity. To the best of our knowledge this is the third description of RDD [Sinus Histiocytosis with Massive Lymphadenopathy (SHML)], involving bilateral cervical lymphadenopathy and nephromegaly previously misdiagnosed as Toxoplasma Lymphadenitis. Representative clinical, radiographic and histological findings are presented. Its etiology, diagnosis and management are also reviewed. Sinus Histiocytosis with Massive Lymphadenopathy is a rare disorder of unknown etiology, usually associated with lymph node enlargement in various superficial or deep sites. The key histologic feature of SHML is the presence of various numbers of large, pale histiocytic cells that contain within their cellular borders apparently engulfed lymphocytes (emperipolesis); these distinctive large, pale cells are S-100 protein positive CD-68 positive and CD1a negative by immunostaining. According to the literature the most effective treatment found was surgical debulking.
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PMID:Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman's disease) previously misdiagnosed as Toxoplasma Lymphadenitis. 1529 64

Sinus histiocytosis with massive lymphadenopathy, also known as Rosai-Dorfman disease (RDD), is an idiopathic condition typically associated with cervical lymphadenopathy, fever and hypergammaglobulinaemia. Extranodal involvement has been reported in diverse sites such as the skin, upper respiratory tract, orbit and the central nervous system. We document a case of intracranial RDD in a 40-year-old woman with rapid evolution over a period of three months. Clinically, the patient suffered from headache. The MRT showed a left parietal tumour with dural attachment. Histologically, the lesion consisted of pale-staining histiocytes with emperipolesis, neutrophilic granulocytes and scattered lymphocytes. Focally, the granulocytes dominated the histological picture. By immunohistochemical analysis, the characteristic histiocytes were positive for S100 protein, CD68 and FXIIIa, but negative for CD1a. No Birbeck-granula were detectable in electron microscopic analysis. Granulocytes showed a positive Anti-HHV6b immunoreaction. The tumour was diagnosed asA'an intracranial manifestation of RDD primary to the CNS with an unusual preponderance of neutrophilic granulocytes and with only scattered lymphocytes. The postoperative clinical staging showed no other manifestations of the disease. On postoperative MRI the lesion had been completely resected. No further therapy has been applied and the patient has had an unremarkable clinical course for the last ten months.
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PMID:A case of rapidly progressive Rosai-Dorfman disease restricted to the central nervous system. 1611 57

Rosai-Dorfman disease (RDD) is a non-neoplastic proliferative histiocytic disorder that primarily affects lymph nodes (sinus histiocytosis with massive lymphadenopathy). Primary RDD of the central nervous system is most uncommon. We report on a 35-year-old man with isolated RDD of the meninges overlying the left cerebral hemisphere. Presenting signs and symptoms included severe progressive ipsilateral headaches of 4 months duration, as well as laboratory evidence of mild non-specific systemic inflammatory reaction. On magnetic resonance imaging, the lesion was seen as a contrast-enhancing, plaque-like thickening of the dura mater over the left convexity,without impinging on adjacent bone or cerebral parenchyma. Meningeal biopsy revealed a mixed mononuclear infiltrate dominated by CD68(+), S100(+), CD1a(-) non-Langerhans type histiocytes on a background of fibrosis. Bacteria, in particular mycobacteria, and fungi were excluded with special stains. Extensive clinical workup, encompassing computed tomography of thoracal and abdominal organs, bone marrow biopsy, and bronchoalveolar lavage failed to reveal any extracranial involvement. Laboratory tests for autoimmunity, including C- and P-antineutrophil cytoplasmic antibodies, antinuclear antibody, and serum rheumatoid factor, were negative. Methylprednisolone therapy induced complete remission of symptoms, with the neuroradiologic status remaining unchanged on follow-up after 2 months. We discuss the complex clinicopathologic differential diagnosis and therapeutic issues of this rare condition. While the correct diagnosis of central nervous system RDD is unlikely to be established without invasive procedures (biopsy), a conservative therapeutic approach may be considered a legitimate option.
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PMID:Isolated Rosai-Dorfman disease of intracranial meninges. 1637

A 3-year-old Thai boy suffered from two histiocytoses, Rosai-Dorfman disease (RDD) and juvenile xanthogranuloma (JXG). The patient first presented with massive cervical lymphadenopathy at the age of one year. Biopsy revealed typical RDD; abnormally large CD68- and S-100 protein-positive histiocytes with occasional emperipolesis filled up the sinuses. Two years later, he developed polyuria and polydypsia. Skull film demonstrated osteolytic lesions at the occiput and left parietal region. Enlargement of the pituitary stalk was found on the magnetic resonance imaging. Despite the clinical impression of Langerhans cell histiocytosis, biopsy of the occipital lesion disclosed numerous large histiocytes with foamy cytoplasm. Several Touton giant cells with wreath-like arrangement of the nuclei were also observed. The abnormal cells expressed CD68 and factor XIIIa, but were non-reactive with S-100 protein and CD1a. Biopsy of the pituitary stalk was not performed According to the authors' literature search, this represents the first report of RDD and JXG affecting the same person.
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PMID:Rosai-Dorfman disease and juvenile xanthogranuloma in a Thai boy: report of a case. 1658 88

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.
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PMID:Parvovirus B19 detected in Rosai-Dorfman disease in nodal and extranodal manifestations. 1714 76

Cutaneous Rosai-Dorfman disease (CRDD) is a rare proliferative disorder of histiocytes with unknown etiology, broadly different from systemic Rosai-Dorfman disease. We present the largest series of CRDD, describing the clinical manifestation, histopathology, immunohistochemistry, and follow-up course of 25 cases in China. Clinically, 39 skin lesions in 25 patients were divided into 3 main types: papulonodular type (79.5%), indurated plaque type (12.8%), and tumor type (7.7%). Extremities were the most frequently involved, followed by trunk and face. None of the patients was found to have visceral organ involvement or lymphadenopathy. Microscopically, CRDD was characterized by scattering, clusters or sheets of large polygonal histiocytes intermingled with a florid, mixed inflammatory infiltrate. The most important feature was emperipolesis, which can be highlighted by S-100 protein stain. Patch and bandlike infiltrate of numerous mature plasma cells around glands and vessels was a constant finding in all lesions. Neutrophils existed in all cases to a variable degree with 2 cases forming microabscess. Four cases were remarkable for fibrosis, and xanthomatous change was observed in 2 cases. Coexistence of localized Langerhans cell histiocytosis and CRDD was interestingly found in case 7, which was evidenced by CD1a stain. Clinical follow-up in 22 patients, ranging from 2 to 55 months, indicated that surgical excision was the exclusive effective treatment for CRDD. Partial or complete spontaneous remission was achieved in 7 patients within 6 to 55 months. Owing to its favorable outcome, CRDD should be differentiated from a variety of benign and malignant lesions. Recognition of its wide clinical spectrum and histologic features combined with S-100 protein stain can help to establish the correct diagnosis.
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PMID:Cutaneous rosai-dorfman disease: a clinical and histopathologic study of 25 cases in China. 1732 75

We present herein a Japanese case of Rosai-Dorfman disease (RDD) in which cutaneous manifestations completely remitted after treatment with low-dose oral corticosteroid. A 69-year-old Japanese man presented with a 1-year history of enlarged submandibular lymph nodes and subsequent nasal and pharyngeal bleeding. RDD was diagnosed based on biopsy results from a lymph node in the left parotid region. The patient had also noted several skin eruptions that repeatedly appeared and disappeared on the face and arms. Biopsies were taken from skin eruptions on the face and cuboidal fossa. Both biopsy specimens showed dense, well-demarcated infiltration of histiocytes, lymphocytes and multinucleated giant cells from just under the epidermis to the subcutaneous tissue. These histiocytes were positive for CD68 and S-100, but negative for CD1a, and some displayed emperipolesis. Given the histopathological findings and the fact that the patient was suffering from RDD, skin lesions were diagnosed as cutaneous manifestations of RDD. Cutaneous lesions gradually began to persist concomitant with enlargement of extranodal lymphadenopathy in the nasopharyngeal area. Increasing respiratory obstruction prompted a trial with oral prednisolone commencing at 0.4 mg/kg per day. Both the lymphadenopathy and skin lesions responded quickly. Within 3 months, all his skin lesions disappeared completely with almost complete resolution of lymphadenopathy. Twelve months after the beginning of oral prednisolone therapy, slight recurrence of mucosal and cutaneous lesions appeared, but disappeared quickly with an increase in prednisolone to 0.3 mg/kg per day. Low-dose prednisolone appeared very effective in the case of RDD.
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PMID:Successful treatment of Rosai-Dorfman disease with low-dose oral corticosteroid. 1934 64

Rosai-Dorfman disease (RDD) involving an extranodal site is a diagnostic challenge. Reported herein is the case of a 67-year-old man who presented with a solitary superior mediastinal mass. The lesion was clinically suspected of malignancy including lymphoma because of its high uptake during a (67)Ga-scintigram and (18)F-fluorodeoxyglucose-positron emission tomography. There was no evidence of spread of the disease. Histology of thoracoscopic biopsy specimens indicated granulomatous lesion with infiltration of lymphocytes, plasma cells, and histiocytes with lymphocytes engulfed in their cytoplasm. The lesion did not contain lymph node or thymic elements. On immunohistochemistry the histiocytes were positive for S-100 protein, CD68, and CD163 but were negative for CD1a. These findings suggested a diagnosis of RDD. Despite lack of intervention, the lesion remained almost the same size for 3 years. To the best of the authors' knowledge this is the first case of RDD presenting as a solitary mediastinal mass.
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PMID:Rosai-Dorfman disease presenting as a solitary mediastinal mass. 1935 72


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