関: xanthoma

WordNet

widespread xanthomas (especially on elbows and knees); often associated with a disorder of lipid metabolism (同)xanthoma multiplex, cholesterosis cutis, lipid granulomatosis, lipoid granulomatosis
a skin problem marked by the development (on the eyelids and neck and back) of irregular yellow nodules; sometimes attributable to disturbances of cholesterol metabolism

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/06 13:52:58」(JST)

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A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis), from Greek xanthos, ξανθος, "yellow", is a deposition of yellowish cholesterol-rich material that can appear anywhere in the body in various disease states.^[2] They are cutaneous manifestations of lipidosis in which lipids accumulate in large foam cells within the skin.^[2] They are associated with hyperlipidemias, both primary and secondary types.

Tendon xanthomas are associated with type II hyperlipidemia, chronic biliary tract obstruction, and primary biliary cirrhosis. Palmar xanthomata and tuboeruptive xanthomata (over knees and elbows) occur in type III hyperlipidemia.

Types

Xanthelasma

Histology picture of xanthoma showing lipid-laden foam cells with large areas of cholesterol clefts, 10 × magnification, eosin and hematoxilin stain^[3]

A xanthelasma is a sharply demarcated yellowish collection of cholesterol underneath the skin, usually on or around the eyelids. Strictly, a xanthelasma is a distinct condition, only being called a xanthoma when becoming larger and nodular, assuming tumorous proportions.^[4] Still, it is often classified simply as a subtype of xanthoma.^[5]

Xanthoma tuberosum

Xanthoma tuberosum (also known as tuberous xanthoma) is characterized by xanthomas located over the joints.^[2]^:530

Xanthoma tendinosum

Xanthoma tendinosum (also tendon xanthoma or tendinous xanthoma^[6]) is clinically characterized by papules and nodules found in the tendons of the hands, feet, and heel.^[2]^:531 Also associated with familial hypercholesterolemia (FH).^[7]

Eruptive xanthoma

Eruptive xanthoma (ILDS E78.220) is clinically characterized by small, yellowish-orange to reddish-brown papules that appear all over the body.^[2]^:531 It tends to be associated with elevated triglycerides ^[8]

Xanthoma planum

Xanthoma planum (ILDS D76.370), also known as plane xanthoma, is clinically characterized by macules and plaques spread diffusely over large areas of the body.^[2]^:531

Palmar xanthoma

Palmar xanthoma is clinically characterized by yellowish plaques that involve the palms and flexural surfaces of the fingers.^[2]^:531 Plane xanthomas are characterised by yellowish to orange, flat macules or slightly elevated plaques, often with a central white area which may be localised or generalised. They often arise in the skin folds, especially the palmar creases. They occur in hyperlipoproteinaemia type III and type IIA, and in association with biliary cirrhosis. The presence of palmar xanthomata, like the presence of tendinous xanthomata, is indicative of hypercholesterolaemia.

Tuberoeruptive xanthoma

Tuberoeruptive xanthoma (ILDS E78.210) is clinically characterized by red papules and nodules that appear inflamed and tend to coalesce.^[2]^:532 Tuberous xanthomata are considered similar, and within the same disease spectrum as eruptive xanthomata.^[6]

Other types

Other types of xanthoma identified in the Medical Dictionary include:^[9]

eruptive x.: usually appearing on the back and buttocks, or the extensors of knees and elbows of hyperlipemic individuals, it is the sudden appearance of groups of yellowish-brown papules surrounded by an erythematous halo.
x. diabeticorum: a type of eruptive xanthoma, often with severe diabetes.
x. disseminatum: a rare xanthoma, consisting of non-X histiocytes on flexural surfaces, associated with diabetes insipidus.
x. planum: yellow bands or rectangular plates in the corium.
verrucous x.: aka histocytosis Y, a papilloma of the oral mucosa and skin, whereby the connective tissue under the epithelium contains histiocytes.

References

^ Kumar et al. Cases Journal 2008
^ ^a ^b ^c ^d ^e ^f ^g ^h James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
^ Kumar et al. Cases Journal 2008
^ Shields, Carol; Shields, Jerry (2008). Eyelid, conjunctival, and orbital tumors: atlas and textbook. Hagerstwon, MD: Lippincott Williams & Wilkins. ISBN 0-7817-7578-7.
^ thefreedictionary.com > xanthelasma Citing: The American Heritage Medical Dictionary Copyright 2007, 2004 and Mosby's Medical Dictionary, 8th edition. 2009
^ ^a ^b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 1415–16. ISBN 1-4160-2999-0.
^ Van Den Bosch, Harrie C.M.; van den Bosch, Harrie C.M. and D. Vos, Louwerens (May 28, 1998). "Achilles'-Tendon Xanthoma in Familial Hypercholesterolemia". New England Journal of Medicine 338 (22): 1591. doi:10.1056/NEJM199805283382205. PMID 9603797. Retrieved 5 April 2013.
^ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3030216/
^ "Xanthoma". Medical Dictionary - Dictionary of Medicine and Human Biology. Retrieved 2015-02-05.

External links

Media related to xanthoma at Wikimedia Commons
194641940 at GPnotebook
MedlinePlus Encyclopedia Xanthoma

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 脳腱黄色腫症 cerebrotendinous xanthomatosis
2. 遺伝性運動失調の概要 overview of the hereditary ataxias
3. LDLコレステロール代謝の遺伝性疾患 inherited disorders of ldl cholesterol metabolism
4. 小児における急性発症性精神病の救急外来による評価 emergency department evaluation of acute onset psychosis in children
5. 遺伝性痙性対麻痺 hereditary spastic paraplegia

English Journal

Cholestane-3β,5α,6β-triol in lipidosis: High levels in Niemann Pick type C, Cerebrotendinous Xanthomatosis and Lysosomal Acid Lipase deficiency.

Pajares S1, Arias A1, Garcia-Villoria J1, Macias-Vidal J1, Ros E2, de Las Heras J3, Giros M1, Coll MJ1, Ribes A4.
Journal of lipid research.J Lipid Res.2015 Aug 3. pii: jlr.M060343. [Epub ahead of print]
Niemann-Pick type C (NPC) is a progressive neurodegenerative disease characterized by lysosomal/endosomal accumulation of unesterified cholesterol and glycolipids. Recent studies have shown that plasma cholestane-3b,5a,6b-triol (CT) and 7-ketocholesterol (7-KC) could be potential biomarkers for the
PMID 26239048

[Treatable neurometabolic diseases. Association with schizophrenia spectrum disorders].

Bonnot O1, Herrera P2, Kuster A3.
Presse medicale (Paris, France : 1983).Presse Med.2015 Aug 3. pii: S0755-4982(15)00297-3. doi: 10.1016/j.lpm.2015.02.023. [Epub ahead of print]
Schizophrenia spectrum disorders are presented on 1% of subjects over general population. Organic pathologies prevalence in schizophrenia spectrum patients is not well determined, and it is probably underestimated. In the present update review, we are going to highlight seven treatable neurometaboli
PMID 26248708

Familial hypertriglyceridemia: biochemical, clinical and molecular study in a Moroccan family.

Bouabdellah M1, Iraqi H2, Benlian P3, Berqia I2, Benchekroun L1, Chraïbi A2, Chabraoui L1.
Annales de biologie clinique.Ann Biol Clin (Paris).2015 Aug 1;73(4):474-484.
Familial hypertriglyceridemia is a rare autosomal recessive inborn error of metabolism. Mutation within the LPL gene constitutes the first cause of monogenic etiology. Lipoprotein lipase (LPL) is the key enzyme in triglyceride-rich lipoproteins catabolism. Familial LPL deficiency is expressed by eru
PMID 26104879

Japanese Journal

Synovial xanthomatosis : are there clues to mechanisms for this rare disease?

SCHUMACHER H. Ralph,HABRE Wassim G.,FRIEDRICH Christopher,SIECK Marie,CHEN Lan X.,CLAYBURNE Gilda M.,VON FELDT Joan M.
Modern rheumatology 22(6), 907-911, 2012-11-01
NAID 10031127247

多発性巨大軟部腫瘤を認めた脳腱黄色腫症の1例

梅本勇基,上野弘貴,原直之 [他],中村毅,大槻俊輔,柳瀬哲至,山脇健盛,松本昌泰
日本内科学会雑誌 101(5), 1397-1400, 2012-05-10
… 脳腱黄色腫症（cerebrotendinous xanthomatosis：CTX）は知能低下，小脳失調，白内障，腱黄色腫を呈する遺伝性代謝疾患である．本例は53歳，女性．四肢に巨大な軟部腫瘤を認め生検により黄色腫と判明．小脳歯状核病変や血清コレスタノール高値からCTXと診断しケノデオキシコール酸（chenodeoxycholic acid：CDCA）とスタチンの投与を開始した．下腿の巨大黄色腫はMRIでT2WI高信号域を認め出血や粘液変性の存在が示唆された． …
NAID 10031130551

症例皮膚黄色腫症を契機に診断した原発性高コレステロール血症の幼児例

前田麻衣子,古田淳一,伴野朋裕 [他]
皮膚科の臨床 53(13), 1931-1935, 2011-12
NAID 40019086481

Related Pictures

★リンクテーブル★

リンク元

「黄色腫症」

Xanthoma
	Photograph of patient's knee showing multiple xanthoma tuberosum
Classification and external resources
ICD-10	E78.2 (ILDS E78.280), K13.4
ICD-9	272.2
DiseasesDB	28524
MedlinePlus	001447
eMedicine	derm/461
MeSH	D014973

　　[★]

英: xanthomatosis
関: 黄色腫

[1] Kumar et al. Cases Journal 2008

[Andrews-2] ^ ^a ^b ^c ^d ^e ^f ^g ^h James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.

[3] Kumar et al. Cases Journal 2008

[4] Shields, Carol; Shields, Jerry (2008). Eyelid, conjunctival, and orbital tumors: atlas and textbook. Hagerstwon, MD: Lippincott Williams & Wilkins. ISBN 0-7817-7578-7.

[5] thefreedictionary.com > xanthelasma Citing: The American Heritage Medical Dictionary Copyright 2007, 2004 and Mosby's Medical Dictionary, 8th edition. 2009

[Bolognia-6] Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 1415–16. ISBN 1-4160-2999-0.

[7] Van Den Bosch, Harrie C.M.; van den Bosch, Harrie C.M. and D. Vos, Louwerens (May 28, 1998). "Achilles'-Tendon Xanthoma in Familial Hypercholesterolemia". New England Journal of Medicine 338 (22): 1591. doi:10.1056/NEJM199805283382205. PMID 9603797. Retrieved 5 April 2013.

[8] ttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3030216/

[9] "Xanthoma". Medical Dictionary - Dictionary of Medicine and Human Biology. Retrieved 2015-02-05.

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案内

xanthomatosis