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)

Erdheim-Chester disease is a rare nonfamilial histiocytic disorder of unknown etiology with characteristic long bone findings. The 3-year survival rate for patients with Erdheim-Chester disease is 50%. Approximately 50% of patients have disease involvement in other tissues, including skin, retro-orbital and periorbital tissues, pituitary-hypothalamic axis, heart, kidney, retroperitoneum, breast, skeletal muscle, and sinonasal mucosa; about 20% of patients have lung involvement. Prognosis generally depends on the extent of the extraosseous disease. For patients with lung involvement, gender distribution is equal, but men typically present at an older age than do women. Approximately 80% of patients present with dyspnea, and most patients have diffuse interstitial infiltrates and pleural and/or interlobar septal thickening on chest radiology. Characteristic lung histopathology includes the accumulation of histiocytes with variable amounts of fibrosis and a variable lymphoplasmacytic infiltrate in a lymphangitic distribution. Immunostains are diagnostically useful, showing immunopositivity for CD68 and factor XIIIa and immunonegativity for CD1a. Birbeck granules are uniformly absent ultrastructurally.
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PMID:Pulmonary and ophthalmic involvement with Erdheim-Chester disease: a case report and review of the literature. 1557 89

Erdheim-Chester disease (ECD) is a rare histiocytic disorder of unknown etiology that involves predominantly bone and viscera. Whether ECD represents a reactive or neoplastic process has been debated since its initial description. Herein, we report for the first time the cytogenetic findings of a case of ECD diagnosed at Mayo Clinic Rochester. The tumor occurred in the right tibia of a 35-year-old man and showed the balanced chromosomal translocation t(12;15;20)(q11;q24;p13.3), among other numeric chromosomal abnormalities. The lesion was positive for CD68 and negative for CD1a and S100. These findings support the idea that some cases of ECD are clonal neoplastic disorders of putative histiocytic differentiation. However, additional studies are warranted to confirm whether the chromosomal abnormalities found in this case represent recurrent cytogenetic events.
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PMID:Clonal cytogenetic abnormalities in Erdheim-Chester disease. 1725 79

Erdheim-Chester disease is a rare, idiopathic, non-Langerhans' cell, histiocytic disorder. To our knowledge this is only the second case of Erdheim-Chester disease reported in the Chinese population. We describe a 45-year-old woman presenting with unilateral proptosis and periorbital xanthelasma. Histopathological examination revealed a xanthogranulomatous lesion expressing CD68, but negative for S100 protein, CD1a, CD3, or CD20. Systemic involvement was evident on bone scanning, and involvement of the thorax and abdominal aorta was seen on computed tomography. Despite treatment with systemic steroids, immunosuppressants, chemotherapy and interferon, progressive deterioration occurred. Our patient's clinical course was consistent with reports in the literature. Unfortunately, our patient developed neutropenic fever and died from septicaemic shock. Although Erdheim-Chester disease is a rare entity, especially in the Chinese population, an unusual presentation with orbital masses and bilateral xanthelasma, associated with systemic features, should raise the suspicion of this serious and potentially fatal disease.
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PMID:Orbital involvement in Erdheim-Chester disease. 1754 15

Erdheim-Chester disease is a non-Langerhans cell histiocytosis, classically thought to be rare, but diagnosed more frequently nowadays (250 published cases). Histiocytes of Erdheim-Chester disease are positive for CD68 but not for CD1a, contrary to Langerhans cell histiocytosis. Two signs highly evocative of this diagnosis are nearly constant tracer uptake by the long bones on (99)Tc bone scintigraphy and a "hairy kidney" appearance on abdominal CT scan. A more "elegant" diagnostic method is ultrasound-guided biopsy of the perirenal infiltration. Cardiovascular involvement, which affects the aorta ("coated aorta") as well as all the cardiac layers, leads to one third of the deaths related to this disease. Central nervous system infiltration (especially cerebellar) is severe and difficult to treat. The prognosis is extremely variable and is often worse when there is a cardiovascular and/or central nervous system involvement. The treatment, decided upon on a case-by-case basis at a specialist center, often begins with interferon alpha.
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PMID:[Erdheim-Chester disease]. 1761 76

Erdheim-Chester disease (ECD) is a granulomatous and infiltrative disorder of unknown etiology with proliferation of cholesterol-containing histiocytes and peculiar bone involvement. It is very similar to Langerhans cell histiocytosis (LCH) on histology but with a different immunohistochemical profile. This is the first report of intraocular involvement in this disease. MPSG, a 46 y.o. woman, presented with proptosis of the OD. She referred ulcerated lesions on the hard palate, symmetrical and bilateral osteosclerosis of the fibulae and tibiae and a nodule in the right breast (biopsy: xantomatous histiocytic infiltrate CD68+, S-100 and CD1a negative on immunohistochemistry compatible with ECD). MRI studies demonstrated an extraconal tumor in the juxta-bulbar temporal portion of the right orbit close to the lacrimal gland and hyperintense on T1. Vision was 20/20 OU, with numerous drusen in the posterior pole, similar to basal laminar drusen. Two regions of orange subretinal infiltrates that showed progressive staining on the angiogram were seen in the peripapillary region and also close to the fovea in the OD. Choroidal neovascular membranes were seen 2 years later in OU leading to severe visual loss in the OS and to a slight visual field loss in the OD, which retained 20/20 vision. This pioneer report depicts in vivo characteristics of histiocytic granulomas in ECD. Caution should be taken with patients with ECD as potentially blinding intraocular complications may arise.
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PMID:[Intraocular involvement in Erdheim-Chester disease--first report in the literature: case report]. 1815 16

Erdheim-Chester disease is a rare xanthomatosis that may present with characteristic radiologic and histologic features. There have been conflicting reports regarding the nature of this process, including whether it represents a reactive or neoplastic lesion. We present the clinical histories, pathologic findings, and an analysis of clonality using the HUMARA assay in two patients diagnosed with Erdheim-Chester disease. One case has previously been documented in the literature. Histologically, both cases demonstrated sheets of foamy xanthomatous histiocytes with widespread infiltration of the viscera. These regions were punctuated by variable amounts of inflammation, including lymphocytes, plasma cells, and occasional Touton-type giant cells. The histiocytes were immunoreactive for CD68 and CD163; they did not stain with S100 or CD1a. One case was found to be monoclonal; however, the second case had extensive DNA degradation; thus, clonality could not be assessed. In addition to contributing an additional report of this rare disease to the literature, we demonstrate the histiocytes to express CD163, thereby further supporting a monocyte/macrophage basis. Moreover, in confirming clonality, our observations lend additional evidence to the view that Erdheim-Chester disease represents a neoplastic process.
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PMID:Systemic Erdheim-Chester disease. 1818 96

We report a case of Erdheim-Chester disease, revealed by a polyuropolydipsic syndrome. During the patient's work-up, osteocondensing lesions were found; the biopsy of these lesions showed an infiltration by spumous cells of histiocytic lineage, CD68+, CD1a-, associated with a lymphoid infiltrate within an extensive fibrosis. Lung and retroperitoneal lesions were discovered. The surgical resection of the involved ureter was required. Histological examination of the resected specimen showed the same pattern of histiocytic infiltration. Our case report underlines the variety of lesions associated with Erdheim-Chester disease and the importance of a complete exploration.
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PMID:[Uncommon retroperitoneal and bone lesions: Erdheim-Chester disease]. 1867 71

A 60-year-old man with progressive gait ataxia and mild pyramidal signs showed at MRI a pontine lesion with post-contrast enhancement in the left middle cerebellar peduncle. Diagnosis of Erdheim-Chester disease (ECD), a rare non-Langerhans cell histiocytosis, was suggested, further supported by a previously diagnosed retroperitoneal fibrosis. X-ray films demonstrated characteristic bilateral and symmetric osteosclerosis of the long bones of the lower limbs, which at radionuclide studies exhibited a marked increase in technetium-99 uptake. A cerebral 18FDG-PET showed a relevant pontine uptake of the tracer. Re-evaluation of a past retroperitoneal biopsy showed an intense CD68+, CD1a-, and S100- infiltrate of histiocytes with foamy cytoplasm, thus confirming the diagnosis. ECD should be regarded as a rare cause of adult-onset sporadic ataxia, especially when pontine lesions and extraneurological manifestations are present.
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PMID:Late-onset sporadic ataxia, pontine lesion, and retroperitoneal fibrosis: a case of Erdheim-Chester disease. 1881 Jun 2

Erdheim-Chester disease (E-C D) is a rare clinicopathologic entity with nearly pathognomonic radiographic features. About half of the affected exhibit extraskeletal manifestations, including involvement of the hypothalamus-pituitary axis, lung, heart, retroperitoneum, skin, liver, kidneys, spleen and orbit. This disease usually affects individuals in their fifties to their seventies and has a male preponderance. The lesions of E-C D consist of lipid-storing CD68 (+) and CD1a (-) non-Langerhans cell histiocytes, either localized to the bone or involving multiple systems of the body as well. Skeletal involvement is characteristically bilateral and symmetric, exhibiting an osteosclerotic pattern in the metaphysis and diaphysis of the long bones, usually sparing epiphysis. We recently had a 68 years old male patient with E-C D, with a mild and persistent knee pain, who was subjected to a 3-phase technetium-99m methylene diphosphonate ((99m)Tc-MDP) bone-scan and subsequently to gallium-67 citrate ((67)Ga-C) whole body scan. The characteristic symmetric pattern of these scans raised the question of E-CD disease. The patient showed an excellent symptomatic response to high-dose steroids. However, the symptoms recurred after discontinuation of treatment.
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PMID:Erdheim-Chester disease: symmetric uptake in the (99m)Tc-MDP bone scan. 2041 Nov 79

Erdheim-Chester disease (ECD) is a rare non-Langerhans form of histiocytosis characterized by xanthomatous tissue infiltration with foamy histiocytes. It is still controversial whether these histiocytic proliferations represent monoclonal neoplastic populations or are part of a polyclonal reactive process. This is a case report of ECD in a 76-year-old Chinese woman. We investigated the clinicopathological features and clonality of the histiocytes using laser microdissection and a clonality assay based on X-chromosomal inactivation mosaicism in female somatic tissues, as well as on the polymorphism of phosphoglycerate kinase (PGK) and androgen receptor (AR). According to our results, the lesion was composed of lipid-laden histiocytes and focal fibrous tissues. The lipid-laden histiocytes were positive for CD68 and CD163, but negative for CD1a and S-100. Electron-microscopic examination showed no Birbeck granules, but the presence of lipid vacuoles. Moreover, the result of the clonality assay demonstrated that these cells formed a polyclonal population. In conclusion, ECD is a rare non-Langerhans' cell histiocytosis. Its nature may be a non-neoplastic lesion; however, additional studies with larger sample sizes are necessary to conclusively prove our hypothesis.
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PMID:Clonal status and clinicopathological feature of Erdheim-Chester disease. 1933 22


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