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Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We made a retrospective evaluation of clinical and radiologic features, treatment, and outcome of Erdheim-Chester disease, a rare non-Langerhans cell histiocytosis. We had 7 patients coming from 3 French teaching hospitals and reviewed 52 cases from the literature. These cases were considered to have Erdheim-Chester disease when they had either typical bone radiographs (symmetrical long bones osteosclerosis) and/or histologic criteria disclosing histiocytic infiltration without features for Langerhans cell histiocytosis (no S-100 protein, no intracytoplasmic Birbeck granules). Ages at diagnosis ranged from 7 to 84 years (mean +/- SD = 53 +/- 14 yr) with a male/female ratio of 33/26. Bone pain was the most frequent clinical sign (28/59), mostly located in the lower limbs. Exophthalmos and diabetes insipidus were found in respectively 16/59 and 17/59 patients. General symptoms (fever, weight loss) and "xanthomas" (mainly located on the eyelids) were present in 11/59 patients. Retroperitoneal involvement was found in 17/59 patients. Skeletal X-ray showed typical osteosclerosis of the diaphysis of the long bones in 45/59 patients. Bone radiographs showed osteolytic lesions of the flat bones (skull, ribs) in 8 patients. Histologic diagnosis was performed after a bone biopsy (28 patients), a retroorbital biopsy (9 patients), and/or a biopsy of the retroperitoneal infiltration or the kidney (11 patients). Six of our 7 patients but only 5 of 52 patients from the literature had the complete histologic criteria, disclosing no Birbeck granules or S-100 immunostaining. In other cases, histologic results usually described a xanthogranulomatous infiltration by foamy histiocytes nested in fibrosis. Treatment was corticotherapy (20/59), chemotherapy (8/59), radiotherapy (6/59), surgery (3/59) and immunotherapy (1 patient). Twenty-two patients died after a mean follow-up of 32 +/- 30 mo (range, 3-120 mo). In conclusion, Erdheim-Chester disease may be confused with Langerhans cell histiocytosis as it sometimes shares the same clinical (exophthalmos, diabetes insipidus) or radiologic (osteolytic lesions) findings. However, it also appears to have distinctive features. Patients are older and have a worse prognosis than those with Langerhans cell histiocytosis, and the diagnosis relies on the association of specific radiologic and histologic findings.
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PMID:Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. 1169 22

A 14-year-old boy with longstanding multisystem Langerhans cell histiocytosis (LCH) had multifocal bone pain unresponsive to chemotherapy, corticosteroids, anti-inflammatories, and narcotic analgesics. He responded to two cycles of intravenous pamidronate, each 90 mg per day on three consecutive days. Two subsequent episodes of deterioration also responded to treatment. The pathophysiology of his bone pain and the likely mechanisms of biphosphonate action are discussed, with emphasis on the molecular and cellular basis of LCH.
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PMID:Treatment of Langerhans cell histiocytosis with pamidronate. 1119 72

Erdheim-Chester disease (ECD) is a rare multisystem histiocytosis syndrome of unknown cause that usually affects adults. Histiocytic infiltration of multiple end organs produces bone pain, xanthelasma and xanthoma, exophthalmos, diabetes insipidus, and interstitial lung disease. Differential diagnosis includes Langerhans cell histiocytosis, metabolic disorders, malignancy, and sarcoidosis. ECD can be diagnosed using a combination of clinical and histopathologic findings. Sites of involvement include lung, bone, skin, retroorbital tissue, central nervous system, pituitary gland, retroperitoneum, and pericardium. Symmetrical long bone pain with associated osteosclerotic lesions, xanthomas around the eyelids, exophthalmos, and/or diabetes insipidus suggest ECD. Approximately 35% of patients have associated lung involvement, characterized by interstitial accumulations of histiocytic cells and fibrosis in a predominantly perilymphangitic and subpleural pattern. This pattern distinguishes ECD from other histiocytic disorders involving the lung. The diagnosis is confirmed by tissue biopsies that contain histiocytes with non-Langerhans cell features. In general, the clinical course of patients with this disease varies, and the prognosis can be poor despite treatment. Clinical trials for treatment of ECD have not been conducted and treatment is based on anecdotal experience.
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PMID:Erdheim-Chester disease: a rare multisystem histiocytic disorder associated with interstitial lung disease. 1120 82

A 3-year-old boy had fever and bone pain. Magnetic resonance imaging of his femurs showed marrow replacement; iliac crest marrow biopsy revealed myelofibrosis. Although the pathologic criteria for Langerhans cell histiocytosis were not met, the clinical picture led to treatment with etoposide and methylprednisolone, without clinical improvement. One month after presentation, generalized tonic-clonic seizures occurred, and magnetic resonance imaging revealed parenchymal brain lesions. 2-chlorodeoxyadenosine was used. Because of the unexpected lack of response to etoposide and methylprednisolone, a second bone biopsy was performed. The diagnosis was revised to infantile myofibromatosis. After six courses of 2-chlorodeoxyadenosine, brain and bone lesions regressed, with resolution of the clinical symptoms.
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PMID:Use of 2-chlorodeoxyadenosine to treat infantile myofibromatosis. 1190 43

The authors present the case of a 27-year-old woman with Erdheim-Chester disease (ECD) and extensive intracranial involvement, in whom the initial diagnosis of ECD was established based on computerized tomography (CT)-guided stereotactic biopsy of a caudate lesion. Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis of unknown origin that is clinically characterized by bone pain, diabetes insipidus, and exophthalmos. The radiological hallmarks of the disease include symmetrical sclerosis of the long bones with epiphysial sparing and increased tracer uptake in lesions seen on scintigraphic imaging. Erdheim-Chester disease is characterized histologically by the presence of infiltrating lipid-laden histiocytes that commonly involve the retroperitoneum, orbits, skin, pericardium, lungs, and long bones. Although the occurrence of diabetes insipidus often precedes the diagnosis of ECD by more than a decade in most patients, magnetic resonance imaging- and CT-documented central nervous system involvement is exceedingly rare. In the setting of neurological involvement, neurosurgical biopsy has been reported seven times in the literature, with only one of these biopsies being the basis for the initial diagnosis of the disease. The authors' case represents only the second time the disease has been diagnosed by means of neurosurgical biopsy, highlighting the diagnostic difficulties that patients with EDC present. Skeletal radiographs were confirmatory in this case and this modality should be emphasized as the simplest and most direct route to the diagnosis. The degree of neurological involvement further distinguishes the case presented from prior reports in the literature. The multiple bilateral intraaxial lesions were intensely enhancing on contrast CT scans, distributed infra- and supratentorially, involving both white and gray matter, and associated with diffuse cerebral edema. The case presented is also remarkable by virtue of the symmetrical involvement of the caudate nuclei, representing the first such example documented in the literature. The diagnosis, treatment, and outcome in this patient are discussed, and a review of the literature is presented.
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PMID:Diagnosis of Erdheim-Chester disease by using computerized tomography-guided stereotactic biopsy of a caudate lesion. Case report. 1535 12

This report concerns the clinicopathologic features of 4 patients with CD56/neural cell adhesion molecule (NCAM)-positive Langerhans cell sarcoma (LCS). Three of the patients were elderly, between 59 and 62 years of age at presentation, and the other was 35 years old. The presenting symptoms included fever, bone pain, and weakness. The patients shared some clinical findings, such as multiorgan involvement of lymph nodes, skin, lung, bone marrow, and spleen. LCS carries a poor prognosis, and 3 of the patients died of the disease within several years of presentation despite multiagent chemotherapy and radiotherapy. Of special interest is that all of the cases showed CD56 expression on the tumor cells in addition to expression of CD1a, S100beta, and langerin, the presence of which suggests derivation from Langerhans cells. For control, CD56 was also examined in 8 cases of Langerhans cell histiocytosis (LCH), a single-system unifocal or multifocal disease, and the results of staining of the tumor cells were negative. Our findings indicated that CD56 may be a clinically relevant biologic marker for predicting an intractable course of Langerhans cell neoplasms, although it is often difficult to draw a definite morphologically-based distinction between LCS and LCH.
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PMID:CD56/NCAM-positive Langerhans cell sarcoma: a clinicopathologic study of 4 cases. 1591 64

Both Langerhans cell histiocytosis (LCH) and nephroblastoma are rare in children. We report herein the first case of a patient with both diseases concurrently. A 2-year-old female presented with bone pain and swelling of the right humerus. As a result of the local incision biopsy, she was diagnosed as LCH. A nephroblastoma of the left kidney was discovered during her staging work-up. After complete resection of the nephroblastoma, she received standard chemoradiotherapy for nephroblastoma. She is alive without relapse 14 months after initial presentation.
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PMID:Concurrent Langerhans cell histiocytosis and nephroblastoma. 1914 48

A 2 years old male child was admitted in Dhaka Shishu Hospital with one month history of fever, swelling and pain in joints of right leg. Hematological and microbiological investigation revealed normal except radiological findings when there were destructive lesions of affected bones and thought to be Langerhan's cell histiocytosis but did not respond to treatment. Subsequently, he was transfer to Pediatric Hematology and Oncology, Bangabandhu Sheikh Mujib Medical University (BSMMU) for proper management. On examination, the boy was mildly pale, severe bone pain, no organomegaly but few occipital group of lymphnode were palpable. He had extensive red tender swelling over the hands and legs. Hematological values showed high WBC, low platelet count and lymphoblasts. Biochemical values were high serum LDH and serum uric acid. Skeletal survey showed diffuse osteolytic lesion and osteoporosis with evidence of transverse metaphyseal radiolucent bands (leukemic line), lamellar periosteal reactions and cortical erosions widespread throughout the skeleton with subperiosteal new bone formation. Radioisotop of skeleton showed increase uptake at the site of lesions. Bone marrow aspiration findings were suggestive of ALL-L1 and cytochemistry of aspirate showed PAS positive and Sudan black negative. Immunophenotype confirmed as pre-B ALL, Then, protocol based induction had given for 4 weeks. Thereafter, a short course of intensification followed by maintenance therapy had started with significant improvement of physical, hematological and radiological findings. So, an awareness of varied clinical and radiological manifestations of childhood ALL in bone marrow and skeletal system are needed in order to establish a correct diagnosis when the presenting signs and symptoms are enigmatic. It is also important to keep in mind the possibility of extensive skeletal involvement in ALL, especially when a child present with pain, swelling of limb with walking difficulties. The curability of ALL in contrast to metastatic malignancies makes accurate diagnosis of paramount importance.
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PMID:Extensive skeletal lesions in childhood acute lymphoblastic leukemia. 1918 58

Bone pain in children is common. The cause may be as benign as growing pains or as life-threatening as a malignancy. When a cause cannot be established by laboratory tests, physical examination or patient history, imaging of the affected body part is often obtained. Distinguishing benign from malignant processes involving the bones of children, based on imaging findings, can be challenging. The most common benign conditions that mimic pediatric bone tumors on imaging are Langerhan's cell histiocytosis and osteomyelitis. In this review, the current literature regarding the pathology and imaging of these conditions is reviewed. Benign conditions are compared with the most common pediatric bone tumors, Ewing sarcoma and osteosarcoma, with an emphasis on clinical and imaging features that may aid in diagnosis.
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PMID:The child with bone pain: malignancies and mimickers. 1996 1

Langerhans cell histiocytosis (LCH) is a rare disease caused by a clonal proliferation of specialized dendritic (Langerhans) cells. Although uncommon, it is potentially fatal and carries significant morbidity. Bone involvement is particularly destructive and to date, no standard of care exists for management of both the disease and the significant bone pain as many of these patients experience. In the literature, 12 patients who had previously been heavily pretreated for their disease had their bone pain treated with a bisphosphonate as extrapolated from the cancer literature. Interestingly, these patients had a complete or near complete resolution of their pain, return of functional status and in 75% of cases radiographic evidence of reduction or regression of disease. Only 6 of these patients were treated with a newer generation bisphosphonate, zoledronic acid. In this paper, we report a case series of 2 patients with LCH bone involvement who received 4 mg of intravenous zoledronic acid monthly for 1 year with complete resolution in their bone pain. In addition, both patients demonstrated reduction in tumor burden after bisphosphonate treatment. Uniquely, our first case is the only reported case in the literature using a bisphosphonate as first line therapy in the treatment of LCH. This case demonstrates the potential role of zoledronic acid therapy in the first line setting for disease stabilization and symptomatic control in patients unable to receive conventional therapy.
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PMID:Treatment of Langerhans cell histiocytosis bone lesions with zoledronic acid: a case series. 2151 45


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