KEGG   DISEASE: Xanthoma
Entry
H01661                      Disease                                

Name
Xanthoma;
Xanthomatosis
  Subgroup
Cerebrotendinous xanthomatosis [DS:H00151]
Description
Xanthomas are benign and usually yellow plaques, papules, or nodules that develop in the cutis and subcutaneous tissue. They evolve as clusters of foam cells and favor the neck, upper trunk, flexural folds and periorbital region. The foam cells are formed from macrophages as a consequence of gradual intracellular accumulation of lipids taken up by specific receptors or by the mechanism of phagocytosis. They are seen in several lipidoses and are usually indicative of a derangement in lipoprotein metabolism, in particular familial hypercholesterolemia. Prevention of xanthomas goes hand in hand with the management of the underlying disorders of lipid metabolism. Normolipemic xanthomatosis may be seen in several rare conditions.
Category
Skin disease; Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Skin diseases
  Skin and soft tissue diseases
   H01661  Xanthoma
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01661  Xanthoma
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Metabolic and nutritional disorders affecting the skin
   EB90  Dermatoses resulting from disturbed metabolic processes
    H01661  Xanthoma
Other DBs
ICD-11: EB90.2
ICD-10: E75.5 E78
MeSH: D014973
OMIM: 602247
Reference
  Authors
Zak A, Zeman M, Slaby A, Vecka M
  Title
Xanthomas: clinical and pathophysiological relations.
  Journal
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 158:181-8 (2014)
DOI:10.5507/bp.2014.016
Reference
  Authors
Babu R, Venkataram A, Santhosh S, Shivaswamy S
  Title
Giant Tuberous Xanthomas in a Case of Type IIA Hypercholesterolemia.
  Journal
J Cutan Aesthet Surg 5:204-6 (2012)
DOI:10.4103/0974-2077.101384
Reference
PMID:23741215 (drug)
  Authors
Miyagawa F, Fukumoto T, Kobayashi N, Asada H
  Title
Successful treatment of diffuse normolipemic plane xanthoma with probucol.
  Journal
Case Rep Dermatol 5:148-51 (2013)
DOI:10.1159/000351682
Reference
  Authors
Pietroleonardo L, Ruzicka T
  Title
Skin manifestations in familial heterozygous hypercholesterolemia.
  Journal
Acta Dermatovenerol Alp Pannonica Adriat 18:183-7 (2009)

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