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)

We describe papular xanthomatosis that progressively developed in a patient with long-standing erythrodermic atopic dermatitis and normal lipid metabolism and without an associated systemic disease. Light microscopy showed a lobulated aggregate of sometimes foamy histiocytes. Ultrastructurally, these histiocytes contained lipid inclusions and lacked features of Langerhans or epithelioid cells. Other granulomatous skin diseases such as tuberculosis, sarcoidosis, or foreign body granuloma were excluded by histologic study, polarizing microscopic examination, electron microscopy, and microbiologic investigations. Nevertheless, these xanthomas showed an antigen expression pattern similar to that found in noninfectious granulomas (CD1a-, MS-1-, CD11c+, MRP-8/-14+, 25F9+, RM 3/1+/-, CD36(+), indicating that normolipemic papular xanthomatosis may be reactive process and should not be included among the true cutaneous non-Langerhans cell histiocytoses.
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PMID:Normolipemic papular xanthomatosis in erythrodermic atopic dermatitis. 782 34

We describe two cases of isolated langerhans cell histiocytosis (LCH) of the thyroid gland, one of which was found in conjunction with an incidental papillary carcinoma. The first case was that of a 43-year-old man who presented with a 1- to 2-cm nodule within the left lobe of the thyroid. Fine-needle aspiration cytology revealed atypical cells with convoluted nuclei in a background of eosinophils and lymphocytes. The findings prompted a recommendation for excision secondary to the high suspicion of a hematologic malignancy. Histologic sections demonstrated LCH in association with a small focus of papillary carcinoma. The second case involved a 43-year-old woman who presented with a 1.8-cm nodule within the right lobe of the thyroid. Fine-needle aspiration in this case demonstrated abundant hemosiderin-laden macrophages, occasional lymphocytes, and a single benign sheet of follicular cells. No eosinophils were seen; however, a single group of atypical histiocytic cells with cleaved nuclei was noted. The nodule was subsequently resected. Histologic examination demonstrated LCH in association with follicular nodular hyperplasia with cystic degeneration. Immunohistochemical studies were performed in both cases, revealing CD1a and S100 immunoreactivity in the Langerhans' cells. Although LCH may occur as a manifestation of systemic disease, its occurrence as an isolated finding in the thyroid is rare. Its occurrence in association with papillary carcinoma of the thyroid is even more uncommon. We present two cases of isolated LCH of the thyroid, one of which was found in association with papillary carcinoma of the thyroid. The cytologic, histologic, immunohistochemical, and radiologic features are described in each case. The ultrastructural findings from the first case are also presented.
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PMID:Isolated Langerhans cell histiocytosis of the thyroid: a report of two cases with nuclear imaging-pathologic correlation. 1068 77

Juvenile xanthogranuloma (JXG) is an uncommon non-Langerhans cell histiocytosis. We investigated 148 biopsy specimens from 129 patients collected in the Kiel Pediatric Tumor Registry (KPTR) between 1965 and 2001. The clinical, histologic, and immunohistochemical characteristics of JXG were evaluated to gain more and deeper insights into the morphology and clinical behavior of JXG. Conventionally stained lesions were classified into the following morphologic subtypes: early JXG (EJXG), classic JXG (CJXG), transitional JXG (TJXG), or combined lesions with more than one basic pattern (combined JXG). Immunohistochemistry included antibodies against macrophages (Ki-M1P), S-100 protein, CD1a, and factor XIIIa (FXIIIa). Clinical data were obtained by means of a standardized questionnaire. The relative incidence of JXG in the KPTR is 0.52%. The male/female ratio was 1.4:1. The mean age was 22.4 months (median, 5 months; range, 0-244 months). A total of 34.5% of the cases of JXG were congenital, and 71.0% of the lesions were diagnosed within the first year of life. Most cases of cutaneous JXG were solitary (81.0%). Five cases (3.9%) presented with visceral (systemic) involvement. Histologically, CJXG was most frequent (47.2%), followed by EJXG (27.1%) and TJXG (16.0%). A total of 9.7% of the lesions represented combined JXG. Histiocytes, including giant cells, were positive for Ki-M1P (100%) and in most cases for FXIIIa (99%). The CD1a and S-100 protein reactions were generally negative. Clinical and follow-up data showed a generally favorable prognosis with a low relapse rate (7.0%) and even complete involution after incomplete resection. Only 1 of 5 patients with widespread congenital systemic disease died after 34 days. JXG is an uncommon, mostly cutaneous, and prognostically favorable histiocytic tumor of infancy. Simple tumor excision is the therapy for choice except in the very rare systemic JXG, in which multimodal chemotherapy is indicated.
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PMID:Juvenile xanthogranuloma in childhood and adolescence: a clinicopathologic study of 129 patients from the kiel pediatric tumor registry. 1600 12

We present herein a case of oral verruciform xanthoma (VX) in order to discuss this relatively rare entity in light of current information. A 38-year-old woman, non-smoker, presented with a lesion at the left ventral surface of the tongue. The lesion is characterized by a mild epithelial proliferation and sub-epithelial accumulation of foam cells, which were positive for CD68, and negative for CD1a and S-100 protein. Human papillomavirus (HPV) DNA typing for low, intermediate, and high-risk groups was also performed and no etiological link between HPV and this lesion was found. The past medical history of the patient was unremarkable and further investigations did not reveal any biochemical abnormalities or systemic disease. Verruciform xanthoma is an uncommon benign lesion of undetermined etiology. It is a superficial normolipemic xanthoma, probably reflecting a multifactorial reactive and dystrophic process unrelated to HPV. It is noteworthy that in a small and superficial biopsy, xanthoma cells may be scanty and can be missed, especially if the pathologist is unfamiliar with the existence of this uncommon lesion. Its clinical and pathological recognition and correct diagnosis is critical because VX can occur in conjunction with other systemic and cutaneous inflammatory diseases; therefore, it necessitates further clinical assessment.
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PMID:Flat-type verruciform xanthoma of the tongue and its differential diagnosis. 1993 Sep 92

Multicentric reticulohistiocytosis is a very rare systemic disease that affects skin, mucosa and joints. We reported a case of a woman with multicentric reticulohistiocytosis who presented typical skin syndromes and arthralgia. Immunohistochemical analysis showed positive staining for S100 protein, which was reported negative in the majority of previously presented cases. Other immunohistochemical markers (CD68(+), CD1a(-), lagerin (-) and complete histologic and clinical picture were specific enough to make the definitive diagnosis of multicentric reticulohistiocytosis. The patient was administered prednisone just when arthritis appeared and we believe that this therapy protected her from the development of destructive arthritis. No autoimmune disease or internal malignancy was observed during 12-month follow up.
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PMID:Multicentric reticulohistiocytosis with S100 protein positive staining: a case report. 2036 87

Gastrointestinal (GI) tract involvement by Langerhans cell histiocytosis (LCH) is a rare condition. It is typically noted in male patients with systemic disease and is associated with both poor prognosis and high morbidity. The incidence peaks in childhood. However, a limited number of cases have been reported in adults. To further characterize this disease process, we collected 24 cases of GI tract LCH from 12 patients. The patients included 2 children (4 mo and 2.3 y) and 10 adults (40 to 77 y; mean, 58.4 y), with a female predominance (9 of 12, 75%). Both children presented with failure to thrive, bloody diarrhea, and anemia. In contrast, 5 of 10 (50%) adults were asymptomatic and the rest had unrelated symptoms. Endoscopically, the pediatric patients showed the involvement of the duodenum and multiple colonic sites. However, 8 of 10 (80%) adults presented with a solitary polyp, primarily involving the colorectum (7 of 8, 88%). The lesions ranged in size from 0.1 to 0.8 cm (mean, 0.4 cm), and were predominantly intramucosal (18 of 24, 75%) with either a marginated (14 of 24, 58%) or infiltrative (10 of 24, 42%) growth pattern. Microscopic features were similar to those of LCH found elsewhere, although some cases differed by showing prominent lymphocytes (12 of 24, 50%) rather than eosinophils and large nucleoli (2 of 24, 8%). Reactive overlying mucosal and entrapped epithelial changes (10 of 24, 42%), mucosal ulceration (3 of 24, 13%), focal necrosis (1 of 24), and multinucleated giant cells (1 of 24) were also identified. Mitotic figures were absent. On immunohistochemistry, all lesions expressed the S-100 protein and CD1a. Follow-up information was available for 11 (92%) patients ranging from 2 months to 5.3 years (mean, 1.8 y). One pediatric patient was lost to follow-up. However, the other patient developed multisystem disease and died 1 year after the initial diagnosis. Two adult patients developed cutaneous disease, 2 months and 2 years after the initial diagnosis, 1 of whom had multifocal colonic disease. On the basis of this study, GI tract LCH lesions present in both children and adults with a female predominance. Consistent with earlier reports, pediatric cases are associated with systemic disease and poor prognosis. However, in adults, LCH is typically encountered as an incidental, solitary polyp. Rare cases of systemic disease may occur and, therefore, close follow-up may be warranted.
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PMID:Gastrointestinal tract langerhans cell histiocytosis: A clinicopathologic study of 12 patients. 2126 52

Langerhans cell histiocytosis (LCH) is a heterogeneous group of diseases characterized by a pathological proliferation of cells phenotypically similar to Langerhans cells. The disease course is variable, alternating between resolving and potentially fatal forms. The diagnosis is based on clinical appearance and confirmed by CD1a positivity and / or immunohistochemistry. We report the case of a male child of 3 months with two different presentations of Langerhans cell-histiocytosis (LCH) at different times. The first presentation was classified as a self-healing LCH (formerly known as Hashimoto-Pritzker). The last presentation, although clinically suggestive of Letterer-Siwe (former designation), was not associated with systemic disease. This emphasizes that LCH cannot be compartmentalized into four groups, but considered a single disease with a wide spectrum of clinical presentations. This case underscores the importance of frequent and long-term follow-up of these patients.
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PMID:Langerhans cell histiocytosis: two clinical presentations in the same patient. 2230 Oct 45

The brain parenchymal Langerhans cell histiocytosis (LCH) without systemic disease or lytic skull lesions is extremely rare. We report a 23-year-old male presenting with new onset 1 hour seizure with loss of consciousness 20 days prior to admission, and recurrent seizure 2 weeks later. Brain magnetic resonance imaging (MRI) showed an irregularly mass with enhancement involving the right frontal lobe. Microscopically, the lesion was characterized by sheets of Langerhans cells in addition to reactive inflammatory elements. Immunohistochemically, Langerhans cells were positive for Langerin, CD1a and S-100 protein. The patient received no chemotherapy or radiotherapy after surgery. After 24 months of follow-up, no recurrence or other systemic lesions were observed. Although there is no standard treatment for solitary cerebral LCH, the prognosis generally appears to be good.
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PMID:Solitary Langerhans cell histiocytosis of frontal lobe: a case report and literature review. 2482 63

Xanthoma is a very rare bone tumor, especially in the mandible, that can be associated with metabolic diseases such as hyperlipidemia. A 14-year-old girl presented with a non-corticated unilocular radiolucent lesion observed on panoramic radiography. The lesion was located between the roots of the left first and second premolar teeth, extending from the cervical to the apical region, measuring approximately 1 cm in greatest dimension. An excisional biopsy revealed foam cells and occasional nonfoamy mononuclear macrophage-like cells spread among a discrete fibrous stroma. Immunohistochemically, the xanthomatous cells were CD68 and vimentin positive, focally positive for S100, CD1a, and CD3 and negative for AE1/AE3, CD20, CD117, and HMB45. Hematologic and biochemical investigations ruled out systemic disease.
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PMID:Primary mandibular xanthoma: case report. 2579 95

Pulmonary Langerhans cell histiocytosis is regarded as a reactive proliferation of the dendritic Langerhans cell population stimulated by chronic tobacco-derived plant proteins due to incomplete combustion but can also occur in childhood as a tumor-like systemic disease. Currently, both these forms cannot be morphologically distinguished. In the lungs a nodular proliferation of Langerhans cells occurs in the bronchial mucosa and also peripherally in the alveolar septa with an accompanying infiltration by eosinophilic granulocytes and destruction of the bronchial wall. Langerhans cells can be selectively detected with antibodies against CD1a and langerin. In the reactive isolated pulmonary form, abstinence from tobacco smoking in most patients leads to regression of infiltration and improvement of symptoms. In high-resolution computed tomography (HRCT) the small star-like scars can still be detected even after complete cessation of tobacco smoking.
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PMID:[Pulmonary Langerhans cell histiocytosis]. 2628 3


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