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)

Papular xanthoma (PX) is a very rare skin disorder. We describe a typical case of PX in a 13-month-old Chinese boy who presented with numerous yellow-red papulonodules, 2-8 mm in diameter, mainly on the face, both upper extremities, and abdomen of 10 months duration. Histologic studies showed a diffuse monomorphous infiltrate of foamy cells in the upper dermis. The foamy cells stained positively with oil red O and CD68. The periodic acid Schiff (PAS) stain, S-100 protein, CD1a, CD56, lysozyme, alpha1-antitrypsin, and factor XIIIa were all negative in the foamy cells. The electron microscopic (EM) studies revealed the morphologic features of macrophages with electron-dense, membrane-limited lipid vacuoles in the cytoplasm. After 14 months, neither spontaneous regression nor anetoderma-like scars were noted. Our immunohistochemical and ultrastructural studies support the notion that the origin of the foamy cells is the macrophage rather than the factor XIIIa (+) dermal dendrocyte. There was no associated or underlying disease in this case. We suggest the term primary PX for cases such as this one.
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PMID:Primary papular xanthoma of children: a clinicopathologic, immunohistopathologic and ultrastructural study. 941 17

We describe the case of a 37-year-old male patient who in 1992 started developing a skin eruption characterized by dark red to red-yellow papulonodular lesions that showed no tendency to spontaneous resolution. Visceral organs were not involved and the lipid pattern was basically normal. Histological examination revealed an infiltrate in the mid and upper dermis mainly consisting of mononucleated and multinucleated histiocytes with an abundant eosinophilic cytoplasm and a ground glass appearance, admixed with numerous xanthomatized cells and Touton and foreign-body giant cells. Immunohistochemical studies showed positivity for CD68 and negativity for CD1a and S-100 protein, whereas at the electron microscopy level the only peculiar finding was the presence of many desmosome-like junctions. The authors believe this to be a borderline form between papular xanthoma and reticulohistiocytosis.
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PMID:Progressive histiocytosis: description of a case of slow-course non-Langerhans cell histiocytosis. 1239 81

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

Erdheim-Chester disease is a rare, idiopathic, non-Langerhans' cell, histiocytic disorder. To our knowledge this is only the second case of Erdheim-Chester disease reported in the Chinese population. We describe a 45-year-old woman presenting with unilateral proptosis and periorbital xanthelasma. Histopathological examination revealed a xanthogranulomatous lesion expressing CD68, but negative for S100 protein, CD1a, CD3, or CD20. Systemic involvement was evident on bone scanning, and involvement of the thorax and abdominal aorta was seen on computed tomography. Despite treatment with systemic steroids, immunosuppressants, chemotherapy and interferon, progressive deterioration occurred. Our patient's clinical course was consistent with reports in the literature. Unfortunately, our patient developed neutropenic fever and died from septicaemic shock. Although Erdheim-Chester disease is a rare entity, especially in the Chinese population, an unusual presentation with orbital masses and bilateral xanthelasma, associated with systemic features, should raise the suspicion of this serious and potentially fatal disease.
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PMID:Orbital involvement in Erdheim-Chester disease. 1754 15

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

Benign histiocytic proliferations are identified by their component cells and classified as either Langerhans cell histiocytosis or non-Langerhans cell histiocytosis. We report a 58-year-old Caucasian woman who presented with diabetes insipidus and was found to harbor a large suprasellar mass. Histopathological analysis was consistent with non-LCH. The differential diagnoses included juvenile xanthogranuloma, adult-onset xanthogranuloma, xanthoma disseminatum, Rosai-Dorfman disease, and Erdheim-Chester disease. Immunohistochemical examination demonstrated a proliferation of large lipid-laden histiocytic cells which were positive for CD68, negative for S100 protein, and showed only faint, background staining for CD1a. We present a case of an autopsy-confirmed non-Langerhans cell histiocytosis limited to the central nervous system and evaluated with both immunohistochemical and ultrastructural studies. Based on the multifocality, anatomic distribution, and immunostaining features, a diagnosis of Erdheim-Chester disease was made. This is only the second reported case of Erdheim-Chester disease with intracranial involvement but absence of extracerebral manifestations. Given the overlapping clinicopathologic, radiographic, and immunohistochemical profiles, differentiating between these rare histiocytic disorders can often present a significant diagnostic challenge. A systematic approach using all available clinical, laboratory, radiographic, histologic, immunohistochemical and ultrastructural data is essential for proper discrimination between the numerous histiocytoses.
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PMID:Non-Langerhans cell histiocytosis with isolated CNS involvement: an unusual variant of Erdheim-Chester disease. 2033 48

Erdheim-Chester disease is a rare non-Langerhans form of histiocytosis with multiple organ involvement. Approximately 20% of patients have xanthoma-like lesions, usually on the eyelids. We report a case of Erdheim-Chester disease in a 32-year-old male who showed peculiar xanthomatous skin lesions and also had atopic dermatitis. His skin manifestations included ring-like yellowish tumors on his periorbital regions, rope necklace-like tumors on his neck, and spindle-shaped tumors on his right preauricular region and cubital fossas. He also had exophthalmos and diabetes insipidus. Chronic eczematous lesions were present on the flexor aspect of his extremities, and his serum eosinophil numbers and immunoglobulin E levels were elevated. A histological examination of his right neck tumor showed foamy macrophages and touton-type giant cells, which were positive for CD68 and CD163 and negative for S-100 and CD1a. We suggest that the complication of atopic dermatitis may have contributed to the uncommon clinical features in this case.
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PMID:Peculiar distribution of tumorous xanthomas in an adult case of erdheim-chester disease complicated by atopic dermatitis. 2167 88

Erdheim-Chester disease (ECD), first described by Jakob Erdheim and William Chester in 1930, is a rare form of non-Langerhan's cell histiocytosis with unknown aetiology, is charaterized by systemic xanthogranulomatous infiltrative disease. To date, about 350 cases of ECD have been described in the medical literature. The typical ECD diagnostic triad is bone pain, diabetes insipidus and bilateral exophthalmos. A 24 years old man came at our attention for polydipsia with nocturnal and diurnal polyuria, anorexia, febrile episodes (38(o)C), and arthromyalgia especially in the knees. Physical examination showed bilateral periorbital xanthelasma. Blood exams showed increase of plasma osmolarity, haematocrit, sodium and urea and decrease of potassium. Urine exams showed just decreased urine specific gravity, (1.001;normal range: 1.010-1.030) suggestive for central diabetes insipidus (CDI). Brain magnetic resonance with gadolinium enhancement showed the presence of multiple hyperintense lesions expecially in neurohypophysis (swollen and with markedly contrast enhancement). All these data raised the suspision of neurosarcoidosis, so a chest and abdomen contrast enhancement computed tomography was performed, which didn't show abnormalities, making less possible the diagnosis of sarcoidosis. Two weeks later, whole-body (from head to pelvis) plus lower limbs 18-fluorine-labelled 2-deoxy-2-fluoro-D-glucose positron emission tomography/computed tomography ((18)F-FDG PET/CT) was performed. Uptake of (18)F-FDG was observed in the upper portion of the midbrain area (SUV(max) 7.1) and the pituitary gland (SUV(max) 7.3), and diffuse bone marrow uptake of (18)F-FDG in the proximal epiphysis and metaphysis of both humeri and thigh bones (SUV(max) 6.5), shoulder blades, pelvis bones and the L2 vertebral body (SUV(max) 3.9). This (18)F-FDG PET/CT confirmed the presence of brain lesion seen in MRI , the absence of visceral lesions, but also showed the presence of an atypical bone uptake of (18)F-FDG, leading to the suspision of ECD. A technetium-99m-methyl-diphosphonate skeletal scintigraphy ((99m)Tc-MDP) scan showed diffuse uptake of the radiopharmaceutical, in the diaphysis of long bones and in the left portion of the body and the spinous process of L2. Considering the difficulties of an osteomedullary or brain biopsy, biopsy was performed on a right anterior thoracic cutaneous xanthelasma. Histology showed lipid-laden histiocytes (CD1a-, CD68+, S-100 protein -) with small nuclei, Touton giant, lymphocytic infiltrates, eosinophils and fibrosis, ECD gold standard patterns as reported in literature. The patient was discharged with the diagnosis of ECD with central nervous system (CNS) manifestations, and treatment started. The diagnosis can be lead by the most charateristic bone findings of symmetrical osteosclerosis of the long bones, especially the lower limbs (tibia and fibula), involving metaphyses and diaphyses but sparing epiphyses. The typical pattern of osteoscerosis of the long bones reflects increased osteoblastic activity. About half of all ECD patients may experience extraskeletal manifestations, including CNS. Visceral involvement in ECD is not specific, and this enforces the diagnostic value of skeletal imaging findings. Furthermore xanthomas can be found at any location on the skin, especially the eyelids as in our patient. For visceral involvement, CT is most useful, while MRI is more sensitive for CNS lesions. Involvement of CNS may be frequently revealed clinically by diabetes insipidus. Few case reports have shown that (18)F-FDG PET/CT scanning could be useful in assessing the extension of ECD lesions. Both radiography and (99m)Tc-MDP skeletal scintigraphy may reveal osteosclerosis of the long bones, which is a typical finding in ECD. The typical bone pattern of (18)F-FDG PET/CT scan is specific for ECD and (99m)Tc-MDP skeletal scintigraphy may be performed in patients in whom initial (18)F-FDG PET/CT scans present the possibility of ECD diagnosis. Others reported that (18)F-FDG PET/CT scans had good sensitivity (66.7%) and specificity (92.3%) as compared with MRI of the CNS involvement or lesions. In conclusion, the (18)F-FDG PET/CT scan and the (99m)Tc-MDP scan depicted many of the most relevant lesions of ECD for the initial assessment of ECD in our patient.
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PMID:(18)F-FDG positron emission tomography/computed tomography and (99m)Tc-MDP skeletal scintigraphy in a case of Erdheim-Chester disease. 2208 57

Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a benign proliferative disorder of histiocytes with an unknown etiology. It is a rare disease characterized by overproduction and accumulation of histiocytes within lymph node sinuses and many other extranodal sites, including skin, oral and nasal cavities, respiratory tract, eyelid, and periorbital area. In this case, a 44-year-old woman with diagnosis of Rosai-Dorfman disease, with xanthelasma-like cutaneous lesions on facial area, extending to her neck and acneiform papules on her back, cervical lymph node involvement, and concomitant presence of diabetes insipidus was presented. Histopathological examination of the lesions demonstrated diffuse lymphocyte, plasmocyte, eosinophil, and sparse neutrophil infiltration, together with histiocytes showing phagocytosed inflammatory cells (emperipolesis). Histiocytes demonstrated immunoreactivity with the antibodies for CD68 and S100, whereas they were negative for CD1a and Langerin. Laboratory tests were normal, except mild immunoglobulin G hypergammaglobulinemia. Systemic methylprednisolone therapy was effective for cutaneous lesions.
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PMID:Rosai-Dorfman disease: a case report with nodal and cutaneous involvement and review of the literature. 2386 52

Solitary juvenile xanthogranuloma (JXG) in the spinal column is extremely rare. Here, we report and characterize the case of xanthogranuloma of the upper cervical spine. A 18-year-old male presented with neck pain for 3 months, along with progressive quadriparesis and sensory loss of 2 months duration with urinary retention. Motor examination revealed spastic quadriparesis with power of 2/5 in all the 4 limbs. Magnetic Resonance Imaging (MRI) spine with contrast showed a dorsally placed intradural extramedullary lesion at the level of C2-C4 vertebral body. The lesion, measuring 2.9x1.7x1.4 cm, was isointense on T1WI, hypointense on T2WI, and enhanced homogenously on contrast. He underwent an emergency C2-C4 laminectomy and complete excision of the lesion. At 3-month follow-up, he was asymptomatic except for mild neck pain. MRI scan of the cervical spine done at follow-up, revealed complete excision of tumor without any residual lesion. Histopathological examination of the mass revealed a polymorphous population of sheets of bloated pale foamy histiocytes (xanthoma cells), numerous admixed mature lymphocytes and several Touton giant cells. The cells were positive for CD68, a histiocytic marker, and negative for CD1a (excludes LCH) and S-100 (excludes RDD).
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PMID:Solitary juvenile xanthogranuloma in cervical spine: case report and review of the literature. 2453 3


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