Genes (25)
Species: human : 24 mouse : 1 | |
Mouse | SOAT1 | 6646 | sterol O-acyltransferase 1 | Bone marrow transplantation experiments demonstrated that ACAT1 deficiency in macrophages was sufficient to cause dermal xanthomas in hyperlipidemic LDLR-deficient mice. | Human | LIPI | 149998 | lipase, member I | | Human | APOA5 | 116519 | apolipoprotein A-V | | Human | C7orf16 | 10842 | | | Human | VCAM1 | 7412 | vascular cell adhesion molecule 1 | CONCLUSION: Extravasated and oxidized LDL in xanthoma lesions contributes to foam cell recruitment by activating tyrosine kinase pathway and inducing adhesion of monocytes to HDMEC through VCAM-1 and E-selectin. Extravasated and oxidized LDL in xanthoma adds to foam cell recruitment by activating tyrosine kinase and inducing adhesion of monocytes to dermal microvascular endothelial cells through VCAM-1 and E-selectin | Human | USF1 | 7391 | upstream transcription factor 1 | | Human | TTPA | 7274 | tocopherol (alpha) transfer protein | | Human | TIMP1 | 7076 | TIMP metallopeptidase inhibitor 1 | Increased immunostaining of collagenase and TIMP in eruptive xanthoma. In contrast, intense dermal staining of both collagenase and TIMP was present in the eruptive xanthoma. To study the roles of collagenase and TIMP in pathologically altered dermal connective tissue, immunohistochemistry was used to localize collagenase and TIMP in an eruptive xanthoma, a chronic tuberous xanthoma, and normal skin. | Human | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1, acid lysosomal | | Human | S100A9 | 6280 | S100 calcium binding protein A9 | The use of immunocytochemical markers for S100 protein, factor XIIIa, lysozyme, alpha 1-antitrypsin, for adherence of peanut agglutinin and of antibodies LN3 (HLA-DR), Leu-M1 (CD15), QBEnd/10 (CD34), MAC 387, and KP1 (CD68) as an aid to conventional histology has been studied in routinely fixed skin biopsy specimens from seven patients with xanthoma disseminatum and 12 patients with histiocytosis X. RESULTS--Typically xanthoma disseminatum occurs in discrete foci below an intact epidermis with individual cells set within a delicate fibrillary connective tissue stroma. | Human | RP1 | 6101 | retinitis pigmentosa 1 (autosomal dominant) | | Human | PPARG | 5468 | peroxisome proliferator-activated receptor gamma | | Human | CEACAM6 | 4680 | carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) | Immunohistochemical examinations were performed using five kinds of histiocytic markers [S100 protein, lysozyme, non-specific cross reacting antigen with carcinoembryonic antigen (NCA), alpha 1-antichymotrypsin (alpha 1-ACT) and alpha 1-antitrypsin (alpha 1-AT)] in biopsied tissues from histiocytosis X, juvenile xanthogranuloma, xanthoma tuberosum, xanthoma disseminatum, reticulohistiocytic granuloma and multicentric reticulohistiocytoma, all of which have been classified as histiocytic proliferative disorders. [Xanthoma disseminatum--differentiation from histiocytosis X with immunohistochemical demonstration of S100 protein, lysozyme and NCA] | Human | LPL | 4023 | lipoprotein lipase | | Human | LMNA | 4000 | lamin A/C | | Human | LDLR | 3949 | low density lipoprotein receptor | Title:Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas.|Association:Y|Conclusion:Not Found | Human | ITIH4 | 3700 | inter-alpha-trypsin inhibitor heavy chain family, member 4 | | Human | SLC37A4 | 2542 | solute carrier family 37 (glucose-6-phosphate transporter), member 4 | | Human | EPHX2 | 2053 | epoxide hydrolase 2, cytoplasmic | | Human | CYP27A1 | 1593 | cytochrome P450, family 27, subfamily A, polypeptide 1 | | Human | CETP | 1071 | cholesteryl ester transfer protein, plasma | Serial changes in serum CETP levels during treatment with pravastatin and probucol were discordant, but not related to the degree of xanthoma regression. Patients with xanthoma/xanthelasma regression after 2 years treatment had higher baseline levels of serum CETP than those without regression (2.7 +/- 0.2 microg/ml [n = 9] versus 2.1 +/- 0.2 microg/ml [n = 7], P = 0.05). Long-term effects of pravastatin and probucol on serum cholesteryl ester transfer protein (CETP) and xanthoma/xanthelasma size were compared. This evidence suggests that the multiple xanthomas observed in CTX may be induced by increased oxidized LDL and the low activity of CETP, both of which are caused by a lack of CDCA. | Human | CD68 | 968 | CD68 molecule | The use of immunocytochemical markers for S100 protein, factor XIIIa, lysozyme, alpha 1-antitrypsin, for adherence of peanut agglutinin and of antibodies LN3 (HLA-DR), Leu-M1 (CD15), QBEnd/10 (CD34), MAC 387, and KP1 (CD68) as an aid to conventional histology has been studied in routinely fixed skin biopsy specimens from seven patients with xanthoma disseminatum and 12 patients with histiocytosis X. RESULTS--Typically xanthoma disseminatum occurs in discrete foci below an intact epidermis with individual cells set within a delicate fibrillary connective tissue stroma. Immunohistochemically, xanthoma cells are positive for CD68, which indicate a histiocytic origin. Results showed the xanthoma cells to be positive for CD68, KiM1P, HAM 56 and vimentin, with less consistent labelling for peanut agglutinin and lysozyme. | Human | APOB | 338 | apolipoprotein B | | Human | APOA2 | 336 | apolipoprotein A-II | N. Engl. J. Med. 306: 1513-1519), but differs at the clinical level (lack of xanthomas), the biochemical level (lack of detectable apoA-I, lower apoA-II level), and at the gene level.(ABSTRACT TRUNCATED AT 400 WORDS) | Human | ABCA1 | 19 | ATP-binding cassette, sub-family A (ABC1), member 1 | The fundamental ultrastructure of lipid storage in the xanthoma cells of various xanthomatous diseases, including familial hyperlipoproteinemia type IIa, III, and V, cerebrotendinous xanthomatosis, Wolman;s disease, Tangier disease, Hand-Schuller-Christian disease, and normolipidemic cutaneous xanthomatosis, revealed lipid vacuoles, either membrane-bound or with no single unit membrane, cholesterol crystals, multivesicular or multilocular lipid bodies, myelin-like bodies, and ceroid granules (residual bodies). Specific entities falling within this category include Tangier disease, familial HDL deficiency with planar xanthomas, familial apolipoprotein A-I and C-III deficiency (formerly known as apolipoprotein A-I absence), familial deficiency of apolipoprotein A-I and C-III, fish-eye disease, familial hypoalphalipoproteinemia, and apolipoprotein A-I variants (apo A-I Milano, apo A-I Marburg, apo A-I Giessen, and apo A-I Munster 1-3). The role of HDL in reverse cholesterol transport and its disturbances in Tangier disease and HDL deficiency with xanthomas. The microscopic differential diagnosis includes dermatofibroma, xanthoma, Tangier disease, histiocytosis X, reticulohistiocytoma, juvenile xanthogranuloma, and leprosy. |
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