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)

Thyroid involvement by Langerhans cell histiocytosis is rare. We report the case of a ten-year old boy who presented with a 5 cm goitre. He was treated for diabetes insipidus 14 months before. Thyroid isotopic scan showed hypoactivity of right lobe and revealed a cold left nodule. The patient was treated by right lobo-isthmectomy with adjuvant corticotherapy and chemotherapy (vinblastine). He is well with 12 months follow-up. Microscopic analysis demonstrated a diffuse infiltrate of thyroid parenchyma by sheets of CD1a positive Langerhans cells associated with lymphocyte foci. This case is remarkable by the abundance of Langerhans cells and scarcity of eosinophils. The diagnosis of thyroid langerhans cell histiocytosis should not be ignored in both children and adult patients.
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PMID:[Langerhans cell histiocytois of the thyroid: a rare disease not to be ignored]. 1193 98

A 29-year-old woman had a 2-month history of an enlarging lesion over her left frontal bone following minor trauma. CT scan showed an osteolytic lesion with an overlying soft tissue mass, thought to be an unhealed skull fracture with pseudomeningocele. Left frontal craniotomy revealed a soft tissue mass, which was resected. Histologic examination revealed multinucleated giant cells mixed with Langerhan's cells that showed the characteristic "coffee bean nuclei." Eosinophils were scant. Immunostaining for CD1a and S100 revealed strong positive staining primarily in the Langerhans' cells while giant cells and inflammatory cells were negative. Immunostaining for CD68, in contrast, stained the osteoclast-like giant cells and macrophages. Electron microscopy confirmed the presence Birbeck granules. The final diagnosis was Langerhans' cell histiocytosis (histiocytosis X) of the skull.
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PMID:February 2002: 29-year-old woman with a skull mass for 2 months. 1214 8

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis. Herein we describe documented skeletal and pericardial involvement by ECD producing cardiac tamponade in a 30-year-old woman. The diagnosis of ECD was established by histopathology, immunocytochemistry, and by radiologic studies demonstrating diffuse, bilateral, symmetrical osteosclerosis of the long bones, sparing the epiphyses and axial skeleton. Scintography using methyl diphosphonate showed increased uptake in involved bone. The patient presented with jaundice and hepatic congestion produced by cardiac tamponade. Pericardial biopsy revealed xanthogranulomatous lesions comprised of foamy and lipid-laden macrophages, multinucleated giant cells, monocytes, and lymphocytes in a mesh of fibrosis. Immunohistochemical staining was positive for CD68 and negative for CD1a, consistent with ECD rather than with the much more common Langerhans cell form of histiocytosis.
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PMID:Erdheim-Chester disease with prominent pericardial involvement: clinical, radiologic, and histologic findings. 1218 13

Langerhans cell histiocytosis (LCH) is a clonal disorder believed to be derivedfrom cells of the dendritic system. Fascin, a 55-kd actin-bundling protein, represents a highly selective marker for dendritic cells of lymphoid tissues and peripheral blood and is involved in the formation of dendritic processes in maturing epidermal Langerhans cells. Since lesional cells of LCH may represent Langerhans cells arrested at an early stage of activation, immunohistochemical expression offascin in epidermal Langerhans cells and in the lesional cells of 34 cases of LCH was evaluated in paraffin sections using an immunoalkaline phosphatase technique. Though epidermal Langerhans cells were nonreactive for fascin, lesional cells in all LCH cases exhibited immunoreactivityforfascin, CD1a, and S-100 protein. Variation in staining intensity was observed in some cases, possibly reflecting differences in cell maturation or activation. Involved tissues included bone, soft tissue, lymph node, thyroid, orbit, and extradural cranial tissue. Immunoreactivity of lesional cells of LCH for fascin supports their derivation from cells of the dendritic system and represents another alteration in the phenotype of Langerhans cells that is associated with maturation, migration, culture, or clonal expansion.
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PMID:Langerhans cell histiocytosis immunohistochemical expression of fascin, a dendritic cell marker. 1221 75

The histiocytic syndromes consist of a group of disorders that share in common the proliferation of cells of the monocytic/macrophage lineage. It has been conventional to divide the histiocytoses into two separate groups: Langerhans cell histiocytosis (LCH) and non-LCH. We present a 2-year-old Hispanic boy who was referred to the dermatology clinic for evaluation of an asymptomatic cutaneous eruption of the head and upper trunk. In addition, he had a 3-week history of pain in his right leg and difficulty in walking. The patient's physical examination was normal, excluding the skin findings. On plain radiography, multiple lytic lesions in the skull, lumbar spine, and right tibia were seen. Histopathologic examination of a skin biopsy specimen revealed a predominantly histiocytic infiltrate in the dermis which was negative for S-100 and CD1a stains. A tibial biopsy specimen showed a monomorphous infiltrate of histiocytes that were S-100 and CD1a positive. This patient's concomitant findings of both LCH and non-LCH histiocytoses further support a potential overlap within the histiocytic syndromes, as has been suggested by others.
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PMID:A child with both Langerhans and non-Langerhans cell histiocytosis. 1238 99

BACKGROUND The pathogenesis of Langerhans cell histiocytosis (LCH), a disease characterized by an abnormal accumulation of the dendritic Langerhans cells, is still unknown. Based on the monoclonality of the CD1a+ cell and reports of familial clustering, it is hypothesized that a genetic alteration at a cellular level may be causative. This genetic change may have an effect on the cellular mechanisms controlling proliferation and apoptosis. MATERIALS AND METHODS LCH-lesions were studied for the expression of Ki-67, present in the nucleus of proliferating cells. Furthermore, the expression of cell cycle-related gene products TGF-beta receptor I and II, MDM2, p53, p21, p16, Rb, and Bcl2 were studied. The TGF-betaR genes play a role in tumor suppression, whereas Bcl2 inhibits apoptosis. The remaining genes are part of either the p53-p21 and/or p16-Rb pathways, which induce cell cycle arrest or apoptosis in response to DNA damage. RESULTS In 30 biopsies the diagnosis of LCH could be confirmed on the basis of CD1a positivity (27 bone and 3 skin). All cases showed scattered nuclear-positive staining for the proliferation marker Ki-67. In more than 90% (n >/=27) of these cases, expression of TGFbeta receptor I and II, MDM2, p53, p21, p16, Rb, and Bcl2 was detected in lesional LCH cells. The overexpression was in general heterogeneous, ranging from limited focal staining of scattered cells within the lesion to strong diffuse staining. CONCLUSIONS These findings suggest that the cellular mechanisms that sense and respond to DNA-damage, namely the p53-p21 pathway and the p16-Rb pathway, are activated. The expression of Ki-67 indicates that the cells in LCH are proliferating. The observed overexpression of Bcl2 may play a role in the activation of p53 and p16 and/or the arrest of apoptosis.
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PMID:Expression of cell cycle-related gene products in Langerhans cell histiocytosis. 1246 13

Langerhans cell histiocytosis (LCH) is a rare neoplastic disease of specific dendritic cells which belong to the monocyte-macrophage system. The association of LCH with autoimmune disease is extremely rare and to our knowledge its coexistence with systemic lupus erythematosus (SLE) has not been described so far. We report a case of LCH affecting liver, spleen and abdomen lymph nodes, which developed in an adult female six years after diagnosis of SLE treated for a long time with prednisone. Histology showed infiltration of characteristic Langerhans cells with folded, grooved or lobulated nuclei with fine chromatin. In the background there were eosinophils, lymphocytes and CD-68-positive histiocytes. The neoplastic cells were S100p-immunopositive, but stained negatively for CD1a--probably as the result of overfixation of consulted material. CD-68 was present mostly in macrophages. Ultrastructurally, the tumour cells presented structures consistent with Birbeck granules. Clonal origin of neoplastic cells was shown using the HUMARA-PCR assay. The disease was refractory to treatment with high doses of prednisone and vincristine but complete response was achieved after treatment with caldribine combined with cyclophosphamide.
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PMID:Langerhans cell histiocytosis in a patient with systemic lupus erythematosus: a clonal disease responding to treatment with cladribine, and cyclophosphamide. 1248 6

We report on the difficult differential diagnosis of liver involvement in disseminated Langerhans' cell histiocytosis (LCH). Three years after treatment of LCH involving the skull and pelvic bones, an 18-year-old girl presented with abdominal pain and cholestatic liver disease. At this time, liver biopsy showed portal infiltrates which were diagnosed as chronic non-suppurative destructive cholangitis. Two years later, she was icteric under progredient hepatic failure. A second liver biopsy revealed biliary fibrosis and granulomatous inflammation with destruction of the portal bile ducts. The morphological changes in both liver biopsies could be identified as LCH by immunohistochemical detection of CD1a and S-100-positive Langerhans' cells. Morphological changes and clinical findings in LCH of the liver may resemble primary sclerosing cholangitis or chronic non-suppurative destructive cholangitis. Therefore, LCH is an important differential diagnosis of chronic destructive cholangitis with cholestatic liver disease, especially in children and young adults. The diagnosis can be verified by S-100 and CD1a immunohistochemistry.
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PMID:[Langerhans' cell histiocytosis of the liver. Differential diagnosis of a rare chronic destructive sclerosing cholangitis]. 1267 1

Juvenile xanthogranulomas (JXG) is a histiocytic disorder, primarily but not exclusively seen throughout the first two decades of life and principally as a solitary cutaneous lesion. This study is a retrospective clinical and pathologic review of 174 cases documenting the cutaneous and extracutaneous manifestations in patients presenting from the neonatal period to 20 years of age (mean 3.3 years; median 1 year). There was a male predominance (99 male:75 female) in all categories of clinical presentation, but especially notable in the group with multiple cutaneous lesions (12 male:1 female). A solitary cutaneous lesion accounted for 67% of all cases, followed by a solitary subcutaneous or deep soft tissue mass (28 cases, 16%), multiple cutaneous lesions (13 cases, 7%), a solitary extracutaneous, nonsoft tissue lesion (9 cases, 5%), and multiple cutaneous and visceral-systemic lesions (8 cases, 5%). The recorded deaths due to disease included two neonates with systemic JXG who developed hepatic failure and thrombocytopenia and at autopsy had giant cell-neonatal hepatitis in addition to JXG in the liver and other visceral sites. A third death in a 3-month-old boy with a retroperitoneal-pelvic JXG occurred after failure to control severe hypercalcemia. The characteristic Touton giant cell in variable numbers was a consistent feature of the cutaneous lesions; however, these cells were either absent or present in reduced numbers in the various extracutaneous lesions when compared with JXG in the skin. Spindle cells intermingled among the mononuclear cells or forming short fascicles were seen in both cutaneous and extracutaneous lesions. Immunohistochemistry was performed on all extracutaneous lesions, and the constituent cells, regardless of their individual morphologic features, were uniformly positive for vimentin, CD68, and factor XIIIa and negative for S-100 protein and CD1a. It is widely held that JXG is a proliferative disorder of dendrocytes, possibly dermal dendrocytes; thus, its clinical and pathologic similarities to Langerhans cell histiocytosis are not entirely unexpected in light of the most recently proposed international classification of histiocytic disorders, which includes JXG and Langerhans cell histiocytosis together as "dendritic cell-related" histiocytoses.
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PMID:Juvenile xanthogranulomas in the first two decades of life: a clinicopathologic study of 174 cases with cutaneous and extracutaneous manifestations. 1271 44

Langerhans cell histiocytosis (LCH) is a rare malignant disease involving the accumulation of a monoclonal proliferation of cells in various organs, that phenotypically resemble Langerhans cells (LC). LCH is not merely a hyperplasia of LC, as it typically affects organs that are outside of their normal physiologic distribution. Normal Langerhans cells are bone marrow-derived dendritic cells that populate the epidermis and are distinguished by the presence of Birbeck granules and cell surface protein CD1a. LC act as sentinels; they recognize, internalize, and process antigens encountered in the skin. Upon encountering an antigen, LC become activated with subsequent maturation and induction of their migratory capacity. Langerhans cells in patients with LCH are aberrant and profoundly differ from normal LC. The clinical spectrum of LCH is quite diverse; multiple organs can be affected. "Pure" genital Langerhans cell histiocytosis is a rare presentation, with only 12 previously reported cases. Due to the rarity of this disease, treatment of genital LCH is still very diverse. No modality is proven to be superior in improving patient outcome, and relapses frequently occur after surgery. Dramatic responses of cutaneous and ano-genital lesions to thalidomide and interferons have been reported. We advocate the use of immuno-modulating agents in LCH of the female genital tract first, rather than surgery.
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PMID:Langerhans cell histiocytosis of the female genital tract: a literature review. 1280 Dec 74


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