Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P06126 (CD1a)
 2,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

We describe the case of a 39-year-old man with idiopathic myelofibrosis, who developed histiocytic sarcoma (true histiocytic lymphoma) 6 months after diagnosis. The patient developed generalized lymphadenopathy. A lymph node biopsy showed pronounced distension of the sinuses in the medulla and periphery, caused by the accumulation of large tumor cells. The tumor cells had abundant clear or eosinophilic cytoplasm. The nuclei were of various sizes and shapes, with condensed chromatin and prominent nucleoli. Some tumor cells displayed erythrophagocytosis. Immunohistochemically, the tumor cells were positive for CD68, alpha(1)-antitrypsin, CD45, CD45RO, and S100 protein, and were negative for B- and T-cell markers, CD30, CD1a, lysozyme, myeloperoxidase, factor VIII-related antigen, CAM 5.2, and HMB-45. Despite multiagent chemotherapy, the patient died of disease 25 months after diagnosis. Although histiocytic sarcomas are very rare, their recognition may be important for clinical and prognostic reasons.
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PMID:Histiocytic sarcoma associated with idiopathic myelofibrosis. 1538 2

T-cell prolymphocytic leukemia (T-PLL) is a rare postthymic T-cell disorder. The disease is characterized by lymphadenopathy, splenomegaly, skin lesions, a high white blood cell count, and an aggressive clinical course. The small cell variant of T-PLL occurs in approximately 20% of patients. Most T-PLL patients express membrane T-cell receptors (TCR) of the alphabeta phenotype. The diagnosis of small cell variant T-PLL in a 56-year-old woman was based on the findings of abnormal lymphocytosis, immunophenotype, lymphadenopathy, and aggressive clinical behavior. Immunophenotype analysis showed that lymphocytes were positive for CD2, CD3, CD5, CD7, CD8, and TCR gammadelta antigens and negative for CD1a, CD4, and TCR alphabeta antigens. Southern blot analysis revealed rearrangement of the TCR Jgamma and Jdelta-1 genes. A cytogenetic study of peripheral blood showed a normal karyotype. T-PLL with a TCR gammadelta phenotype is very rare. This case was typical T-PLL except for the morphologically small cell type and the lack of the typical chromosome aberration. If cases accumulate in the future, the specific features of the gamma8 type of T-PLL will become clearer.
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PMID:Small cell variant of T-cell prolymphocytic leukemia with a gammadelta immunophenotype. 1571 92

Indeterminate cell histiocytosis is a rare disorder, in which the predominant cells have the characteristics of both Langerhans cells and macrophages. We, in this study, describe 18 patients and compare them with those previously published. Most patients were adults with either solitary or multiple red-brown papules or nodules. While most lesions were confined to the skin, both conjunctival and bony involvement was seen. Histologically, the lesions showed patterns resembling those described for xanthogranulomas, with predominantly oncocytic (nine patients), spindled (five patients), scalloped (two patients) or vacuolated (two patients) macrophages. The accompanying infiltrate was mainly lymphocytic, although eosinophils and occasionally plasma cells were seen. All lesions were positive for macrophage markers, such as KP1 (CD68) and Ki-M1p, as well as for S-100 protein and showed variable reactivity for CD1a. No Birbeck granules were seen ultrastructurally in one patient. Some patients shared features with sinus histiocytosis with massive lymphadenopathy. It is unclear whether this disorder is a separate entity or represents various macrophage disorders identified at various time points in the inflammatory response. Ratzinger G, Burgdorf WHC, Metze D, Zelger BG, Zelger B. Indeterminate cell histiocytosis: fact or fiction? A clinicopathological series of 18 patients.
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PMID:Indeterminate cell histiocytosis: fact or fiction? 1611 54

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

Langerhans cell sarcoma (LCS) is a neoplastic proliferation of Langerhans cells that occurs in lymph nodes, liver, skin, spleen, lung, and bone. We report a case of LCS in a 47-year-old man with a 6-month history of scalp mass and cervical lymphadenopathy. Clinical and pathologic data were available. A histologic examination demonstrated a proliferation of cells with malignant cytologic features. Because of its poorly differentiated morphologic features, hematologic and nonhematologic entities were ruled out by immunohistochemical screening with a broad panel of antibodies. Ultrastructural studies demonstrating Birbeck granules and consistent expression of CD1a, S-100 protein, and langerin by immunohistochemistry were helpful in identifying the Langerhans cell origin.
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PMID:Cutaneous Langerhans cell sarcoma: a case report and review of the literature. 1732 88

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

Twenty cases of Langerhans cell histiocytosis (LCH) involving lymph nodes with no other sites of disease are presented. The patients were 12 men and 8 women between 3 months and 68 years of age. Seven patients were younger than 11 years; the other 13 patients were older than 16 years. Clinically, all patients presented with lymphadenopathy and underwent excisional biopsy; clinical and imaging studies did not reveal abnormalities in other organs. Cervical lymph nodes were most commonly involved; other lymph nodes involved included axillary, inguinal, and supraclavicular. Histologically, LCH in lymph nodes had 3 main architectural patterns: (1) preserved nodal architecture with subtle involvement, (2) subtotal effacement of nodal architecture, and (3) total effacement of nodal architecture. There was a gradient of involvement by LCH from focal sinus involvement to diffuse sinus involvement and from focal paracortical involvement to diffuse paracortical involvement. In some cases, focal involvement was initially unrecognized because of the subtle nature of the changes in the lymph node, posing difficulties for diagnosis. Langerhans cells in the involved areas showed strong positivity by immunohistochemical studies for S100 protein and CD1a in all 11 cases assessed. In conclusion, LCH can initially manifest clinically with involvement limited to lymph nodes. Recognition of the different patterns of LCH, particularly cases with subtle involvement, is important for recognizing this disease and separating LCH from other more common causes of lymphadenopathy.
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PMID:Lymph node involvement by Langerhans cell histiocytosis: a clinicopathologic and immunohistochemical study of 20 cases. 1766 69


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