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)

A case of intraosseous xanthoma in a patient with a normal lipid profile is reported. Hyperlipidemia is present in most patients with xanthomas. Intraosseous xanthomas are rare, particularly in normolipidemic patients, in whom the presenting symptom is pain without skin lesions. A lytic lesion with a rim of sclerosis is seen on radiographs. Histology shows foam cells, giant cells, and fibrosis. Intraosseous xanthoma is a benign tumor, and other diagnoses must be ruled out (histiocytosis X, Erdheim Chester disease, clear cell carcinoma metastasis). Surgical excision of the lesion is the elective treatment.
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PMID:Intraosseous xanthoma without lipid disorders. Case-report and literature review. 1077 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

Xanthoma disseminatum is a rare non-Langerhans' cell histiocytosis, characterized by papular cutaneous eruption, possible mucosal involvement, and frequent association with vasopressin-sensitive diabetes insipidus. Herein we report a case of xanthoma disseminatum with pharyngolaryngeal involvement. In this patient, mucosal xanthomas involving the arytenoid cartilages and the interarytenoid area resulted in laryngeal stenosis and severe impairment of both cricoarytenoid joints' motility. Endoscopic CO2 laser medial arytenoidectomy, according to the technique described by Crumley (1993), and vaporization of interarytenoid xanthomas were successfully performed, thus reestablishing bilateral cordal motility and the laryngeal airway. Four years later, a CO2 laser revision was necessary because of recurrence of xanthomas in the posterior larynx. Two years after the latter operation, the patient has no signs of laryngeal obstruction and has a normal voice quality. This case report suggests that endoscopic medial arytenoidectomy may be successfully used in the treatment of bilateral laryngeal pseudoparalysis secondary to xanthoma disseminatum.
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PMID:Bilateral laryngeal pseudoparalysis in xanthoma disseminatum treated by endoscopic laser medial arytenoidectomy. 1126 72

Differentiation among various non Langerhans cell histiocytoses granulomatous in adults is often difficult. Patients, moreover, may not have endocrinologic abnormalities. A 53-yr-old patient was admitted owing to central diabetes insipidus and partial hypopituitarism. Magnetic resonance imaging revealed a space-occupying lesion near the hypophyseal stalk, along with diffuse signal uptake in the cerebellar region. Laboratory chemistry showed monoclonal gammopathy of IgGkappa, and hormone tests disclosed insufficiency in the gonadotropic and somatotropic axes. The clinical picture was marked by multiple cutaneous xanthogranulomas, ataxic gait with blurred speech, compatible with pseudobulbar pontocerebellar symptomatology. Stereotactic pituitary biopsy was histologically classified as nonspecific granulomatous disease. Supplemental biopsies taken from the cutaneous periorbital xanthogranulomas were histologically and immunohistochemically consistent with non Langerhans cell histiocytosis. Systemic cortisone treatment as well as local radiotherapy to the pituitary lesion with a total of 18.0 gy had no impact on the progression of disease-growing tumor and progressing neurologic symptoms. Systemic granulomatoses cannot always be classified according to specific defined diseases. Differential diagnosis in the current patient should include the possibility of Erdheim-Chester disease, necrobiotic xanthogranuloma, and adult disseminated xanthoma.
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PMID:Problems in differential diagnosis of non Langerhans cell histiocytosis with pituitary involvement: case report and review of literature. 1266 54

A 38-year-old man presented with numerous dermal nodules, similar to xanthoma disseminatum, that were histologically consistent with his diagnosis of Erdheim-Chester disease, a non-Langerhans cell histiocytosis. Other cutaneous manifestations of this disease include eyelid xanthelasma, pretibial dermopathy and pigmented lesions of the lips and buccal mucosa. The histological diagnosis of Erdheim-Chester disease was originally made on the patient's retroperitoneal tissue, obtained at a laparotomy for surgical treatment of a presumed phaeochromocytoma, and confirmed by the pathognomonic long bone X-ray findings of this disease.
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PMID:Erdheim-Chester disease. 1286 45

The histiocytic disorders can be broadly categorized into histiocytosis X (Langerhans cell-derived) and non-X types. There are several variants of non-X histiocytoses that tend to occur in a generalized distribution on the body; these include xanthoma disseminatum, generalized eruptive histiocytosis (GEH), progressive nodular histiocytosis, and multicentric reticulohistiocytosis. Clinical and pathologic correlation are required for differentiating among these 4 disorders. We report a case of a middle-aged man in whom small, scattered, symmetrical lesions on the trunk and proximal extremities developed that, after correlating with biopsy specimen and laboratory results, were best classified as a non-X histiocytosis with features of GEH. GEH is a rare generalized non-X histiocytosis that occurs mainly in adults. It is characterized by multiple, scattered, symmetric lesions on the trunk and proximal extremities that are benign in nature and tend to resolve spontaneously. Recent literature has suggested that GEH may be a part of a continuous spectrum of non-X histiocytic disorders.
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PMID:Generalized eruptive histiocytosis. 1469 79

The liver can be involved directly, by infiltration, and indirectly--by remote effects--in the histiocytoses of childhood. Langerhans cell disease, the most well recognized of these, infiltrates the liver directly but has a remarkable selectivity for the bile ducts. Early involvement is by Langerhans cell histiocytosis (LCH) infiltration leading to a sclerosing cholangitis and, eventually, biliary cirrhosis. Gamma glutamyl transpeptidase is a sensitive indicator of liver infiltration in a child with LCH. The indirect effects on the liver of LCH elsewhere in the body are mediated through an accompanying macrophage activation syndrome that is most likely responsible for hepatomegaly and hypoalbuminemia but without direct infiltration. These indirect effects are completely reversible. Juvenile xanthogranuloma/xanthoma disseminatum, a related dendritic cell disorder that can have systemic manifestations, has a strikingly different pattern, with a predominantly portal infiltrate spilling over into the adjacent lobule but sparing the biliary tree. The biology of the liver lesions is not clear but regression has been documented. Myeloproliferative disorders and myeloid leukemias can express CD1a and/or S100 protein, mimicking LCH but distinguished by their sinusoidal pattern. The primary macrophage histiocytoses such as the familial hemophagocytic syndromes can lead to severe liver damage. Although a portal lymphohistiocytic infiltrate is most characteristic, it is probably cytokine-mediated hepatocellular damage that can cause substantial functional impairment or even hepatic failure as a presenting feature. Liver involvement in other, more unusual histiocytic disorders, is also illustrated.
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PMID:Liver involvement in the histiocytic disorders of childhood. 1502 67

We describe a dramatic case of class II non-Langerhans cell histiocytosis, xanthoma disseminatum, in a 30-year-old male patient with progressive involvement of the skin, vocal cords, eyes, bones and nerves in spite of chemotherapy with Vespesid and immunotherapy with interferon-gamma. At the age of 43 years, the patient required surgical clearance of airways, eyelids and peripheral nerves, but at present exhibits stable disease on a combination of lipid-lowering drugs including thiazolidinedione.
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PMID:[Xanthoma disseminatum: a rare case involving the upper extremity]. 1668 Jun 68

NKI/C3 originally was described as a marker for melanoma. Recently, it resurfaced as a marker to separate cellular neurothekeoma from other dermal tumors in the differential diagnosis. To determine the sensitivity and specificity of NKI/C3, we evaluated its staining pattern in 709 normal and neoplastic tissues, including 92 dermal tumors, using tissue microarrays and conventional sections. We found that although NKI/C3 is positive in only a few normal tissues, it stains a broad spectrum of neoplastic tissues. NKI/C3 is also positive in many dermal tumors of possible histiocytic origin, including juvenile xanthogranuloma (6/10), atypical fibroxanthoma (4/12), cellular fibrous histiocytoma (5/10), reticulohistiocytoma (3/6), and xanthoma (8/10). However, it is negative in epithelioid cell histiocytomas (0/7) and Langerhans cell histiocytosis (0/9). Given the wide spectrum of positive staining in morphologic mimics of cellular neurothekeomas, pathologists should be cautious when making this diagnosis based solely on positive staining with NKI/C3.
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PMID:Frequent positive staining with NKI/C3 in normal and neoplastic tissues limits its usefulness in the diagnosis of cellular neurothekeoma. 1693 67

Juvenile xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis characterized by xanthoma-like cutaneous lesions. It is a benign condition that is generally asymptomatic. Visceral involvement is uncommon, but when present may occur in various locations and in different combinations. Pulmonary involvement has been reported as bilateral, multiple micro- or macronodular lesions. We present a 10-year-old boy with systemic (skin, lung, liver and kidney) JXG who showed lung involvement with mainly an interstitial pattern. Bilateral multiple micronodules in both lungs and mediastinal adenopathy were also present.
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PMID:Atypical lung involvement in a patient with systemic juvenile xanthogranuloma. 1720 93


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