xanthomatosis

Summary

Summary: A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.

Top Publications

  1. Dhawan S, Jain D, Kalhan S. Xanthogranulomatous inflammation of ascending colon with mucosal involvement: report of a first case. J Crohns Colitis. 2011;5:245-8 pubmed publisher
    ..Right hemicolectomy was performed with clinical and radiological suspicion of malignancy. This is the first reported case of XGI in ascending colon with mucosal involvement. ..
  2. Aikawa M, Ishii T, Nonaka K, Nakao M, Ishikawa K, Arai S, et al. [A case of gastric xanthogranuloma associated with early gastric cancer]. Nihon Shokakibyo Gakkai Zasshi. 2009;106:1610-5 pubmed
    ..The posterior wall of the stomach was thickened and had a yellowish tumor which was diagnosed as xanthogranuloma. We report this very rare case of synchronous xanthogranuloma and gastric carcinoma. ..
  3. Kourou K, Suga Y, Muramatsu S, Yaguchi H, Ogawa H. A case of diffuse plane normolipemic xanthomatosis associated with pancytopenia and monoclonal gammopathy. J Dermatol. 2006;33:64-7 pubmed
    We report a case of diffuse plane normolipemic xanthomatosis (DPNX) which showed poorly demarcated, uncommon, yellow macules symmetrically distributed on the nape, axillae and inguinal folds accompanied by severe, persistent itching...
  4. Chuang Y, Cheng T, Soong T, Tsou M. Xanthogranulomatous appendicitis. J Formos Med Assoc. 2005;104:752-4 pubmed
    ..This case illustrates that xanthogranulomatous appendicitis may mimic a locally advanced cancer, has a benign course, and can be cured by surgical resection. ..
  5. Vankalakunti M, Saikia U, Mathew M, Kang M. Xanthogranulomatous osteomyelitis of ulna mimicking neoplasm. World J Surg Oncol. 2007;5:46 pubmed
    ..Xanthogranulomatous osteomyelitis often presents as a severe chronic inflammation associated with pain, fever, and leukocytosis. It may mimic carcinoma in the involved organs...
  6. Kim Y, Park S, Kim Y, Moon W. Xanthogranulomatous pancreatitis combined with intraductal papillary mucinous carcinoma in situ. J Korean Med Sci. 2010;25:1814-7 pubmed publisher
    ..Although XGP associated with IPMT is rare, we suggest that such cases should be brought to the attention of clinical investigators, as it may produce clinical features that mimic pancreatic cancer...
  7. Kuo T, Cheng C. Xanthogranulomatous inflammation of urachus mimicking urachal carcinoma. Urology. 2009;73:443.e13-4 pubmed publisher
    ..The computed tomography findings of xanthogranulomatous urachitis resemble those of urachal carcinoma and, although rare, this entity should be included in the differential diagnosis of urachal masses...
  8. Koo J, Jung W. Xanthogranulomatous mastitis: clinicopathology and pathological implications. Pathol Int. 2009;59:234-40 pubmed publisher
    ..In breast core biopsy, xanthogranulomatous mastitis could be distinguished from granular cell tumor, histiocytoid carcinoma and lipid-rich carcinoma by using cytokeratin and histiocytic marker such as alpha1-anti-trypsin and CD68 stain. ..
  9. Srinivas G, Sinha S, Ryley N, Houghton P. Perfidious gallbladders - a diagnostic dilemma with xanthogranulomatous cholecystitis. Ann R Coll Surg Engl. 2007;89:168-72 pubmed
    ..Laparoscopic cholecystectomy is frequently unsuccessful and a partial cholecystectomy is often the procedure of choice. ..

More Information

Publications62

  1. Noel B. Premature atherosclerosis in patients with xanthelasma. J Eur Acad Dermatol Venereol. 2007;21:1244-8 pubmed
    ..Patients with xanthelasma should be considered to have an increased risk of cardiovascular disease independently to the level of plasma lipids. A larger number of patients is, however, needed to confirm this preliminary study. ..
  2. Chan C, Lin S, Hwang J, Sun C, Jeng J, Hwang B, et al. Xanthelasma is not associated with increased risk of carotid atherosclerosis in normolipidaemia. Int J Clin Pract. 2008;62:221-7 pubmed
    ..Normolipidaemia with xanthelasma is not significantly associated with CA, but did relate with adverse cardiovascular profiles, such as higher BMI, waist circumference and LDL-C levels. ..
  3. Ghosh M, Sakhuja P, Agarwal A. Xanthogranulomatous cholecystitis: a premalignant condition?. Hepatobiliary Pancreat Dis Int. 2011;10:179-84 pubmed
    ..Furthermore, the premalignant nature of this entity is not known. This study was undertaken to assess the p53, PCNA and beta-catenin expression in XGC in comparison to GBC and chronic inflammation...
  4. Kansakar P, Rodrigues G, Khan S. Xanthogranulomatous cholecystitis: a clinicopathological study from a tertiary care health institution. Kathmandu Univ Med J (KUMJ). 2008;6:472-5 pubmed
    ..Xanthogranulomatous cholecystitis is an unusual and destructive form of chronic cholecystitis and is indistinguishable from other forms of cholecystitis which makes preoperative diagnosis and surgery difficult...
  5. Kamitani T, Nishimiya M, Takahashi N, Shida Y, Hasuo K, Koizuka H. Xanthogranulomatous pancreatitis associated with intraductal papillary mucinous tumor. AJR Am J Roentgenol. 2005;185:704-7 pubmed
  6. Kubosawa H, Yano K, Oda K, Shiobara M, Ando K, Nunomura M, et al. Xanthogranulomatous gastritis with pseudosarcomatous changes. Pathol Int. 2007;57:291-5 pubmed
    ..Although the precise pathogenesis could not be elucidated, recognition of this unusual morphological appearance is of importance to avoid an overdiagnosis of malignancy. ..
  7. Tursen U, Eskandari G, Kaya T, Tamer L, Ikizoglu G, Atik U. Apolipoprotein E polymorphism and lipoprotein compositions in normolipidaemic xanthelasma patients. J Eur Acad Dermatol Venereol. 2006;20:260-3 pubmed
    ..Patients with xanthelasma demonstrated slight differentiations in the apoE polymorphism and metabolism of lipoproteins that require further clarifications. ..
  8. Ozdöl S, Sahin S, Tokgozoglu L. Xanthelasma palpebrarum and its relation to atherosclerotic risk factors and lipoprotein (a). Int J Dermatol. 2008;47:785-9 pubmed publisher
    ..In patients with xanthelasma, no increase was observed in the rate or risk of cardiovascular disease. Moreover, no relationship was found between Lp (a) levels and xanthelasma. ..
  9. Szalat R, Arnulf B, Karlin L, Rybojad M, Asli B, Malphettes M, et al. Pathogenesis and treatment of xanthomatosis associated with monoclonal gammopathy. Blood. 2011;118:3777-84 pubmed publisher
    ..Monoclonal gammopathy therapy could thus be an option. Indeed, among the patients who received chemotherapy, hematologic remission was accompanied by improvement in xanthoma lesions in several cases. ..
  10. Uguz A, Yakan S, Gurcu B, Yilmaz F, Ilter T, Coker A. Xanthogranulomatous pancreatitis treated by duodenum-preserving pancreatic head resection. Hepatobiliary Pancreat Dis Int. 2010;9:216-8 pubmed
    ..We present two cases who were treated by duodenum-preserving pancreatic head resection and eventually diagnosed as having xanthogranulomatous pancreatitis...
  11. Oh Y, Seong S, Jang K, Chung Y, Paik C, Park Y, et al. Xanthogranulomatous inflammation presenting as a submucosal mass of the sigmoid colon. Pathol Int. 2005;55:440-4 pubmed
    ..In addition, it is important to make an intraoperative pathological diagnosis in order to avoid any excessive operative stress. ..
  12. Karg E, Bereczki C, Kovacs J, Korom I, Varkonyi A, Megyeri P, et al. Primary lymphoedema associated with xanthomatosis, vaginal lymphorrhoea and intestinal lymphangiectasia. Br J Dermatol. 2002;146:134-7 pubmed
    ..We report a 3-year-old girl with unilateral lymphoedema, xanthomatosis and vaginal lymphorrhoea. Biopsy also revealed intestinal lymphangiectasia...
  13. Accad M, Smith S, Newland D, Sanan D, King L, Linton M, et al. Massive xanthomatosis and altered composition of atherosclerotic lesions in hyperlipidemic mice lacking acyl CoA:cholesterol acyltransferase 1. J Clin Invest. 2000;105:711-9 pubmed
  14. Arpa J, Sanchez C, Vega A, Cruz Martinez A, Ferrer T, López Pajares R, et al. Cerebrotendinous xanthomatosis diagnosed after traumatic subdural haematoma. Rev Neurol. 1995;23:675-8 pubmed
    ..After ten months of treatment with chenodeoxycholic acid (CDCA) (750 mg/d) the clinical course was unaffected and the neurophysiological measures, CT and MRI remained unchanged. ..
  15. Kim K, Kubota S, Kuriyama M, Fujiyama J, Bjorkhem I, Eggertsen G, et al. Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). J Lipid Res. 1994;35:1031-9 pubmed
    Cerebrotendinous xanthomatosis (CTX) is a hereditary sterol storage disease associated with accumulation of cholesterol and cholestanol in various tissues, especially tendons and neural tissues...
  16. Elleder M, Michalec C, Jirasek A, Khun K, Havlova M, Ranný M. Membranocystic lesion in the brain in cerebrotendinous xanthomatosis. Histochemical and ultrastructural study with evidence of its ceroid nature. Virchows Arch B Cell Pathol Incl Mol Pathol. 1989;57:367-74 pubmed
    A case is described of cerebrotendinous xanthomatosis with purely neurological manifestations. Cholestanol deposition in both affected and unaffected brain regions was markedly increased, reaching 18.5-20.8% of the sterol fraction...
  17. Verrips A, van Engelen B, Wevers R, van Geel B, Cruysberg J, van den Heuvel L, et al. Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. Arch Neurol. 2000;57:520-4 pubmed
    Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder of bile acid synthesis...
  18. Nistal M, Gonzalez Peramato P, Serrano A, Regadera J. Xanthogranulomatous funiculitis and orchiepididymitis: report of 2 cases with immunohistochemical study and literature review. Arch Pathol Lab Med. 2004;128:911-4 pubmed
    ..Differential diagnoses with other lesions that are rich in macrophages, such as malakoplakia, and those testicular neoplasms without serologic tumor markers are discussed...
  19. Guzmán Valdivia G. Xanthogranulomatous cholecystitis: 15 years' experience. World J Surg. 2004;28:254-7 pubmed
    ..As XGC may resemble adenocarcinoma, differentiation is essential by means of intraoperative histologic examination to ensure optimal surgical treatment. ..
  20. Cali J, Hsieh C, Francke U, Russell D. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem. 1991;266:7779-83 pubmed
    The sterol storage disorder cerebrotendinous xanthomatosis (CTX) is characterized by abnormal deposition of cholesterol and cholestanol in multiple tissues...
  21. Leitersdorf E, Reshef A, Meiner V, Levitzki R, Schwartz S, Dann E, et al. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. J Clin Invest. 1993;91:2488-96 pubmed
    ..Mutations in this gene give rise to the autosomal recessive disease cerebrotendinous xanthomatosis (CTX)...
  22. Yagyu H, Kitamine T, Osuga J, Tozawa R, Chen Z, Kaji Y, et al. Absence of ACAT-1 attenuates atherosclerosis but causes dry eye and cutaneous xanthomatosis in mice with congenital hyperlipidemia. J Biol Chem. 2000;275:21324-30 pubmed
    ..High fat feeding resulted in extensive cutaneous xanthomatosis with loss of hair in both ACAT-1-/-:apo E-/- and ACAT-1-/-:LDLR-/- mice...
  23. Stockman A, Delanghe J, Geerts M, Naeyaert J. Diffuse plane normolipaemic xanthomatosis in a patient with chronic lymphatic leukaemia and monoclonal gammopathy. Dermatology. 2002;204:351-4 pubmed
    Diffuse plane normolipaemic xanthomatosis is a well-defined uncommon condition characterized by yellow-orange plaques involving the eyelids, neck, upper trunk, buttocks and flexural folds...
  24. Lee H, Joo K, Kim D, Park N, Jeong Y, Suh J, et al. A case of simultaneous xanthogranulomatous cholecystitis and carcinoma of the gallbladder. Korean J Intern Med. 2003;18:53-6 pubmed
    ..Here, we describe a case of a simultaneous XGC and a carcinoma of the gallbladder in a 61-year-old woman. To the best of our knowledge, there are only a small number of reports on this combination of diseases. ..
  25. Cui Y, Zhang H, Zhao E, Cui N, Li Z. Differential diagnosis and treatment options for xanthogranulomatous cholecystitis. Med Princ Pract. 2013;22:18-23 pubmed publisher
    ..In some selected cases, laparoscopic cholecystectomy was preferable. ..
  26. Ko B, Jung S, Jung T, Moon K, Kim I, Kang S. Neurenteric cyst with xanthomatous changes in the prepontine area: unusual radiological findings. J Neurosurg Pediatr. 2008;2:351-4 pubmed publisher
    ..Intraoperatively, the authors found a cystic mass containing clear fluid with a yellowish solid nodule. On the basis of histopathological findings, the lesion was diagnosed as a neurenteric cyst with xanthomatous changes. ..
  27. Gregoriou S, Rigopoulos D, Stamou C, Nikolaou V, Kontochristopoulos G. Treatment of mycosis fungoides with bexarotene results in remission of diffuse plane xanthomas. J Cutan Med Surg. 2013;17:52-4 pubmed
    ..Bexarotene led to the clearing of the cutaneous lesions of cutaneous T-cell lymphoma and plane xanthomas. This may be due to an effect of bexarotene on the aberrant T cells that may cause xanthomatization. ..
  28. Hayashi A, Komuro Y, Koga Y, Myckatyn T, Terence M, Yanai A. Hemi-orbicularis oculi switch flap for upper eyelid defects. J Plast Reconstr Aesthet Surg. 2007;60:655-8 pubmed
    ..The proposed method is technically simple and safe and provides consistent results for a potentially wide variety of upper eyelid tumours. ..
  29. Bito T, Kawakami C, Shimajiri S, Tokura Y. Generalized eruptive xanthoma with prominent deposition of naked chylomicrons: evidence for chylomicrons as the origin of urate-like crystals. J Cutan Pathol. 2010;37:1161-3 pubmed publisher
    ..This observation suggests that naked chylomicrons may be deposited in the dermis of patients with severe hypertriglyceridemia. ..
  30. Miyagi Y, Harada Shiba M, Ohta T. Effect of Statin Therapy in 4-Year-Old Dichorionic Diamniotic Twins with Familial Hypercholesterolemia Showing Multiple Xanthomas. J Atheroscler Thromb. 2016;23:112-7 pubmed publisher
  31. Otley C. Non-Hodgkin lymphoma and skin cancer: A dangerous combination. Australas J Dermatol. 2006;47:231-6 pubmed
    ..Preventive strategies and early detection are paramount in this high-risk population. ..
  32. Kasliwal M, Suri A, Rishi A, Suri V, Sharma B, Sarkar C. Symptomatic bilateral cerebellar mass lesions: an unusual presentation of intracranial xanthogranuloma. J Clin Neurosci. 2008;15:1401-4 pubmed publisher
    ..The role of histopathology cannot be overemphasized in the diagnosis of this rare lesion and long-term follow-up is advised in cases managed conservatively owing to the propensity of this tumor to grow over time. ..
  33. Gajer G, Krawczyk A, Petrulewicz Salamon I. [Skin manifestation of mixed hyperlipidaemia in the course of decompensated diabetes]. Wiad Lek. 2006;59:265-8 pubmed
    ..During the treatment the infusion liquids, insulin, metronidasol, amoxiclav, simvastatin were administered. The caries teeth extraction was performed. Metabolic compensation and disappearance of skin changes was obtained. ..
  34. Hartel P, Jackson J, Ducatman B, Zhang P. CD99 immunoreactivity in atypical fibroxanthoma and pleomorphic malignant fibrous histiocytoma: a useful diagnostic marker. J Cutan Pathol. 2006;33 Suppl 2:24-8 pubmed
    ..Control slides were adequate. Our study demonstrated that CD99 can help distinguish AFX from MFH, in addition to other immunohistochemistry as well as clinical and histologic criteria. ..
  35. Karsai S, Schmitt L, Raulin C. Is Q-switched neodymium-doped yttrium aluminium garnet laser an effective approach to treat xanthelasma palpebrarum? Results from a clinical study of 76 cases. Dermatol Surg. 2009;35:1962-9 pubmed publisher
    ..Q-switched Nd:YAG (532 nm and 1,064 nm) laser treatment of xanthelasma cannot be recommended. ..
  36. Uchiyama K, Ozawa S, Ueno M, Hayami S, Hirono S, Ina S, et al. Xanthogranulomatous cholecystitis: the use of preoperative CT findings to differentiate it from gallbladder carcinoma. J Hepatobiliary Pancreat Surg. 2009;16:333-8 pubmed publisher
    ..A retrospective analysis was performed on 32 patients with histologically confirmed xanthogranulomatous cholecystitis (XGC) and 21 patients with gallbladder carcinoma who underwent surgical treatment between 1998 and 2007...
  37. Pataj Z, Liebisch G, Schmitz G, Matysik S. Quantification of oxysterols in human plasma and red blood cells by liquid chromatography high-resolution tandem mass spectrometry. J Chromatogr A. 2016;1439:82-88 pubmed publisher
    ..Furthermore, the applicability for clinical use has been proven by the analysis of oxysterols as biomarkers in Niemann-Pick type C or cerebrotendinous xanthomatosis patients.
  38. Tsai J, Wu M, Shu K, Tsai S. Long-Term Follow-Up of a Homozygous Familial Hypercholesterolemic Patient Receiving Regular Double Filtration Plasmapheresis - Case Report and Literature Review. Blood Purif. 2016;41:264-9 pubmed publisher
    ..LA is effective in the treatment of HoFH when drug therapy and diet control fail. With this treatment, pre-existing xanthomata can regress and coronary artery disease can be prevented. ..
  39. Pickens S, Farber G, Mosadegh M. Eruptive xanthoma: a case report. Cutis. 2012;89:141-4 pubmed
    Eruptive xanthomatosis is a papular skin disorder resulting from hyperlipidemia, specifically hypertriglyceridemia. It is characterized by yellowish red papules concentrated on extensor surfaces of the arms and legs...
  40. Sagaert X, Tousseyn T, De Hertogh G, Geboes K. Macrophage-related diseases of the gut: a pathologist's perspective. Virchows Arch. 2012;460:555-67 pubmed publisher
    ..These events will mostly occur in pathologic conditions, and this review presents an overview of the diseases which are either mediated by or affecting the resident macrophages of the gut. ..
  41. Sethuraman G, Sugandhan S, Sharma G, Chandramohan K, Chandra N, Dash S, et al. Familial homozygous hypercholesterolemia: report of two patients and review of the literature. Pediatr Dermatol. 2007;24:230-4 pubmed
    ..Intertriginous xanthomas are rare but if present are pathognomonic of this disorder. We report two children with familial homozygous hypercholesterolemia who had multiple xanthomas including the intertriginous variety. ..
  42. Hataya Y, Komatsu Y, Chusho H, Kirishima T, Shintani H, Morimoto T. A case of hepatitis C-associated osteosclerosis with xanthogranulomatous cholecystitis. Intern Med. 2011;50:1703-8 pubmed
    ..After cholecystectomy, serum ALP level and bone turnover markers were gradually decreased. This may indicate the existence of a novel osteogenic factor in the gallbladder in HCAO. ..
  43. Oosterveer D, Versmissen J, Yazdanpanah M, Defesche J, Kastelein J, Sijbrands E. The risk of tendon xanthomas in familial hypercholesterolaemia is influenced by variation in genes of the reverse cholesterol transport pathway and the low-density lipoprotein oxidation pathway. Eur Heart J. 2010;31:1007-12 pubmed publisher
    ..The presence of tendon xanthomas in FH patients is associated with genetic variation in the RCT and LDL oxidation pathways. These results support the hypothesis that xanthomas and atherosclerosis share pathophysiological mechanisms. ..
  44. Misselwitz B, Goede J, Pestalozzi B, Schanz U, Seebach J. Hyperlipidemic myeloma: review of 53 cases. Ann Hematol. 2010;89:569-77 pubmed publisher
    ..In conclusion, the clinical characteristics, the therapeutic options, and the pathophysiologic mechanisms of hyperlipidemic myeloma are comprehensively reported using the available data from all 53 published cases in the literature. ..
  45. Hayes B, Boyd A. Eruptive xanthomas. Papules may indicate underlying lipid disorder. Postgrad Med. 2005;118:11-2 pubmed
  46. Jetley S, Rana S, Khan R, Jairajpuri Z. Xanthogranulomatous cholecystitis--a diagnostic challenge. J Indian Med Assoc. 2012;110:833-7 pubmed
  47. Pouwels E, Blom D, Firth J, Henderson H, Marais A. Severe hypertriglyceridaemia as a result of familial chylomicronaemia: the Cape Town experience. S Afr Med J. 2008;98:105-8 pubmed
  48. Díaz Del Arco C, Alvarez Sanchez A, Fernández Aceñero M. Non-gastric Gastrointestinal Xanthomas: Case Series and Literature Review. J Gastrointestin Liver Dis. 2016;25:389-94 pubmed publisher
    ..We identified all cases of non-gastric xanthoma or xanthomatosis reported in the English literature by searching the PubMed database and retrospectively reviewed the clinical, ..
  49. Larson A, Weisfeld Adams J, Benke T, Bonnen P. Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. JIMD Rep. 2017;35:1-5 pubmed publisher
    Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease...
  50. Diekstra F, Saris C, van Rheenen W, Franke L, Jansen R, van Es M, et al. Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. PLoS ONE. 2012;7:e35333 pubmed publisher
    ..Mutations in CYP27A1 are causal to cerebrotendinous xanthomatosis which can present as a clinical mimic of ALS with progressive upper motor neuron loss, making it a plausible ..
  51. Conley A, Manjila S, Guan H, Guthikonda M, Kupsky W, Mittal S. Non-Langerhans cell histiocytosis with isolated CNS involvement: an unusual variant of Erdheim-Chester disease. Neuropathology. 2010;30:634-47 pubmed publisher
    ..A systematic approach using all available clinical, laboratory, radiographic, histologic, immunohistochemical and ultrastructural data is essential for proper discrimination between the numerous histiocytoses. ..
  52. Agarwal A, Kalayarasan R, Javed A, Sakhuja P. Mass-forming xanthogranulomatous cholecystitis masquerading as gallbladder cancer. J Gastrointest Surg. 2013;17:1257-64 pubmed publisher
    ..While imaging findings can help in suspecting XGC, definitive diagnosis require histopathological examination. Presence of typical radiological findings, however, can help in avoiding extended radical resection in selected cases. ..
  53. Martín Fuentes P, Civeira F, Solanas Barca M, Garcia Otin A, Jarauta E, Cenarro A. Overexpression of the CXCL3 gene in response to oxidized low-density lipoprotein is associated with the presence of tendon xanthomas in familial hypercholesterolemia. Biochem Cell Biol. 2009;87:493-8 pubmed publisher
    ..We propose that chemokines belonging to the CXC family could play an important role in the etiology of TX, with CXCL3 being a possible biological marker of onset and development of TX. ..