Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report describes a 47-year-old man with Erdheim-Chester disease (EC), the second case reported in Japan. The patient complained of knee pain, and the roentgenogram of the bilateral legs revealed symmetric osteolytic lesions with sclerosis of the metaphyseal regions of the long bones. Histological examination of the biopsy specimen showed a xanthogranulomatous lesion consisting of aggregations of foamy macrophages and Touton-type giant cells. Immunohistochemical study of the foamy cells in the lesion showed positive reaction to anti-Kp-1, anti-S-100 alpha, beta, anti-neuron-specific enolase (NSE), anti-alpha-1-antichymotrypsin, anti-alpha-1-antitrypsin, and anti-lysozyme antibodies. Electron microscopy showed many lipid droplets in the cytoplasm, but no Langerhans granules. These results suggested that the disease was part of the spectrum of histiocytosis but was different from Langerhans cell histiocytosis. Biochemical analysis of material extracted from a lesion showed the predominance of cholesterol ester. The disease progressed to central diabetes insipidus, and the involvement of multiple organs was indicated by a magnetic resonance image.
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PMID:Erdheim-Chester disease: a case report with immunohistochemical and biochemical examination. 854 20

Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis. Herein we report a case of a 49-year-old woman who developed bilateral knee pain. Imaging procedures revealed multiple long bone lesions and a well-defined 18F-fluorodeoxyglucose-avid mass in the left breast. The breast mass was resected, and an open biopsy was performed on the right femoral lesion. Both specimens revealed involvement by histiocytic infiltrates with features suggestive of ECD. The BRAF V600E mutation was detected by DNA sequencing and immunohistochemistry.
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PMID:Erdheim-Chester disease with an 18F-fluorodeoxyglucose-avid breast mass and BRAF V600E mutation. 2453 80

Eosinophilic granuloma (EG) is the most common and benign form of the spectrum of disorders referred to as Langerhans cell histiocytosis (LCH). Langerhans cell histiocytosis is primarily regarded as a pediatric disease, with few adult cases of multifocal EG of bone reported. We report a case of multifocal EG in a 48-year-old woman, who presented with right knee pain. Radiographs showed a small lytic lesion in the medial femoral condyle. Diagnosis was confirmed by ultrasound-guided biopsy. She had had a previous EG lesion excised from her skull. Whole-body bone scan demonstrated a new skull lesion in the right diploic space, which was confirmed by magnetic resonance imaging. The patient underwent curettage, bone grafting, and prophylactic internal fixation of the right distal femur lesion. The skull lesion was treated with repeat craniectomy. Two years later, she developed a new lesion in the right distal femoral metaphysis, which was treated with intralesional corticosteroid injections. Now, more than 1 year later, the patient is pain-free with no evidence of new or recurrent disease. Because multifocal EG is a rare diagnosis in adults, appropriate clinical suspicion, in combination with radiographic findings and histologic examination, is essential for correct diagnosis and treatment.
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PMID:Multifocal Langerhans Cell Histiocytosis in an Adult. 2666 44

Erdheim Chester disease is a rare non-Langerhans cell histiocytosis which may involve multiple organs including bone, soft tissue, lungs, cardiovascular system, kidneys (retroperitoneum), skin, and central nervous system. Bone involvement is most common followed by other organs. This case report describes a 58-year-old man who presented with progressive renal dysfunction presumed due to obstruction. The patient failed multiple urinary tract interventions, and clinical course was complicated by recurrent low-grade fevers, and bilateral knee pain. Advanced imaging and histopathological features on bone biopsy were consistent with Erdheim Chester disease. Molecular studies of tissue showed BRAF V600 mutation. This patient was treated with Zelboraf (vemurafenib) BRAF inhibitor with subsequent improvement in renal and pleural dysfunction as well as decreased histiocytic soft tissue masses on CT.
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PMID:Erdheim Chester disease with appendicular skeletal, renal and pleural involvement responding to Zelboraf (BRAF inhibitor) treatment: case report. 2742 31

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis with lipid-laden macrophages and fibrosis. Although ECD is a multisystemic disease, the most common finding is sclerotic bone involvement in the diametaphyseal regions of bilateral distal femur and in proximal and distal tibia. We present a 40 years old woman who for the last two years had various systemic symptoms, especially knee pain, polyuria and polydipsia. Although a "hot knee" pattern was seen in bone scintigraphy (BS), a femur biopsy was performed, due to the preliminary diagnosis of haematologic malignancy. The biopsy specimen showed only intense fibrosis. One year later while the patient was in our clinic, BS showed characteristic for ECD bone involvement. Bone biopsy specimens stained in hematoxylin and eosin showed dense fibrosis but not histiocytosis. However, after immunohistochemical staining with CD-68, histiocytes were discerned. In conclusion, the authors underline that ECD was diagnosed at a second diagnostic attempt both clinically and by specific staining pathology specimens.
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PMID:Erdheim-Chester disease diagnosed by 99mTc-MDP bone scintigraphy and brief literature review. 3000 50

Langerhans cell histiocytosis (LCH) in adults is rare and regarded as an 'orphan disease.' The systemic symptoms of LCH can mimic many other undifferentiated diseases seen at the primary care level. Failure to diagnose and delays in referral are common pitfalls in the management of this disease. We present a case of a 34-year-old woman with referred knee pain who was eventually diagnosed with multi-system LCH 4 years after the initial presentation. The mean age of presentation of LCH symptoms in adults is 33. Bone lesions are the frequent presentation of LCH in this age group. Endocrine involvement in LCH is seen in the form of diabetes insipidus (DI), which remains the most common extraskeletal presentation of LCH in adults. In the case discussed here, a definitive diagnosis of LCH was established through tissue biopsy. The spectrum of undifferentiated symptoms underscores the difficulty and delay in making a diagnosis associated with the condition. Most GPs not only face the predicament of initial recognition but also fail to merge presenting symptoms to form a purposeful referral of this elusive disease to a tertiary care unit.
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PMID:Adult Langerhans cell histiocytosis: An unusual cause of referred knee pain. 3217 42