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Xanthoma

作者:凡妮莎·恩根(Vanessa Ngan),参谋作家;2005年,英国诺丁汉皮肤科注册商Amy Stanway博士。由新西兰奥克兰医学编辑Helen Gordon博士更新。古斯·米切尔(Gus Mitchell)编辑的副本。2020年10月。


Xanthoma — codes and concepts
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What is a xanthoma?

A xanthoma is a skin病变caused by the accumulation of fat inmacrophagesin the skin. Less commonly, a xanthoma will occur in asubcutaneouslayer.

Who gets xanthomas?

Xanthomas are usually a skinsignof disorders oflipidmetabolism(dyslipidaemias) or occur inhistiocytosis; the former is the focus of this page. Xanthomas typically affect adults, although children withfamilialhypercholesterolaemiamay present with xanthomas. The race andsexdistributions depend on the underlying cause.

What causes xanthomas?

Dyslipidaemias causing xanthomas are classified asprimaryor secondary.

原发性血脂异常

原发性血脂异常associated with xanthomas can include:

  • Hypercholesterolaemia eg, familial type
  • Combineddyslipidaemia, eg, Type III hyperlipoproteinaemia
  • Hypertriglyceridaemia, eg, Types I, IV, and V hyperlipoproteinaemia
  • 脑齿状异常病和遗传性核血症。

Secondary dyslipidaemias

Secondary dyslipidaemias associated with xanthomas include:

Diffuseplane xanthomatosis is associated withparaproteinaemia. Xanthoma disseminatum is a rare form of histiocytosis.

黄瘤的临床特征是什么?

There are multiple types of xanthomas, and they are classified by their clinical presentation.

赞茜lasma

赞茜lasma (also known as xanthelasma palpebrarum or xanthelasma palpebrum), is the most common form of xanthoma. It is a type of plane xanthoma usually located around themedialcanthus of the upper eyelid. Upper and lower eyelids can be affected symmetrically.

Xanthelasma:

  • Starts as a small bump that enlarges slowly over several months.
  • Presents as soft, yellow or yellow-orangemacules,papules, orplaques.
  • Is associated with familial hypercholesterolaemia, Type II hyperlipoproteinaemia, and primary biliary cirrhosis.
  • 通常会随着正常循环水平而发生lipids.

赞茜lasma

查看更多images of xanthelasma.

Other plane xanthomas

Plane xanthomas (planar xanthoma, plane xanthomatosis) are soft, yellow macules or patches that can occur anywhere on the body. Involvement of the webspace between the fingers and toes ispathognomonicforhomozygousfamilial hypercholesterolaemia. Plane xanthomas may also be associated with Type III hyperlipoproteinaemia, and need to be distinguished from diffuse plane xanthomatosis.

Palmarxanthoma

Palmar xanthoma (xanthoma striata palmaris) present as a yellow-orangeaccentuation手掌和腕折痕。这是III型高脂蛋白血症的诊断。

结节黄瘤

块茎Xanthomas坚固,无痛,红色黄色nodulesthatdevelopover pressure areas such as the knees, elbows, and heels. They may join together to form large multilobulated masses. Tuberous xanthomas are often associated with Type III hyperlipoproteinaemia.

结节黄瘤

Tendon xanthoma

Tendon xanthomas (tendinous xanthoma) are slowly enlarging subcutaneous nodules usually found attached to the Achilles tendon or tendons over the knuckles. They are smooth, firm topalpation, and mobile. The overlying skin colour is normal. Tendon xanthomas are most commonly associated with familial hypercholesterolaemia, but can also be seen in cerebrotendinous xanthomatosis and sitosterolaemia.

Tendinous xanthoma

Eruptive xanthoma

Eruptive xanthomas typically present as crops of 2–5 mm yellow papules with a red rim over伸肌surfaces such as the buttocks or shoulders, but can bewidespreadincluding inside the mouth. The papules may be tender and are usually itchy. They may demonstrate köbnerisation. Eruptive xanthomas are due to hypertriglyceridaemia (triglyceride任何原因的> 11.2 mmol/l)。

Eruptive xanthomas

Verruciform xanthoma

Verruciform xanthoma is a rare entity not associated with dyslipidaemias. It most commonly affects the mouth, where it is found as a solitary,asymptomatic病变on thegingiva和is associated withchronicgraft-versus-hostdisease. On thegenitalia, it has been called a Vegas (verruciformgenital- 相关)xanthoma,并以黄棕色或红色为生verrucousplaque. The lipid found in the foamy macrophages is thought to derive fromkeratinocytes,这可能是对慢性刺激的反应。

What are the complications of xanthoma?

Xanthoma is usually a sign skin of a dyslipidaemia and therefore the complications are those of the underlying condition, such aspancreatitis或心血管疾病。赞茜lasma appears to be an independent predictor ofischaemicheart disease, separate from any associated dyslipidaemia.

How is xanthoma diagnosed?

Xanthoma is often a clinical diagnosis made in the setting of a dyslipidaemia.Skin活检may be required and shows the characteristic lipid-filled macrophages in thedermis(seeEruptive xanthoma病理).

Investigations are required to determine the associated condition and may include:

  • Lipid profile
  • Liver, thyroid, andrenalfunction tests
  • Fasting bloodglucose
  • Serum和urineproteinelectrophoresisfor diffuse plane xanthomas.

What is thedifferential diagnosisfor xanthoma?

Xanthomas may need to be distinguished from many other skin病变sdepending on the clinical presentation.

  • 结节和肌腱xanthomas - 考虑类风湿结节,痛风tophi
  • Eruptive xanthomas — need to be distinguished from xanthoma disseminatum
  • Verruciform xanthoma — can resemble a genital wart
  • Plane xanthomas — must be distinguished from eruptive plane xanthomatosis.

What is the treatment for xanthoma?

Some xanthomas resolve with successful treatment of the underlying dyslipidaemia: tuberous, eruptive, plane, and palmar. Xanthelasma may improve if associated with hypercholesterolaemia and this can be successfully treated. However treatment of the lesions may be required for cosmetic reasons and can includetopicaltrichloroacetic acid (seeChemical peels),electrodessication,cryotherapy,laser汽化(见Nd:YAG,Er:YAG,carbon dioxide laser), orexcision. Verrucous xanthoma is surgically excised and rarely recurs.

Trichloroacetic acid treatment of xanthelasma

Laser treatment of xanthelasma

What is the outcome for xanthoma?

The importance of diagnosing xanthomas is recognising the associated trigger and its complications. Theprognosistherefore depends on the successful management of the underlying medical condition.

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参考

  • Flynn PD. Xanthomas and abnormalities of lipid metabolism and storage. In: Griffiths C, Barker J, Bleiker T, Chalmers R, Creamer D (eds). Rook’s Textbook of Dermatology [4 volumes], 9th edn. Wiley Blackwell, 2016: 62.2-6.
  • Nair PA, Singhal R. Xanthelasma palpebrarum - a brief review. Clin Cosmet Investig Dermatol. 2017;11:1–5.doi:10.2147/CCID.S130116.PubMed Central
  • Rallidis LS, Iordanidis D, Iliodromitis E. The value of physical signs in identifying patients with familial hypercholesterolemia in the era of genetic testing [published online ahead of print, 2020 Jul 30]. J Cardiol. 2020;S0914-5087(20)30237-9. doi:10.1016/j.jjcc.2020.07.005.Journal
  • Rothschild M, Duhon G, Riaz R, et al. Pathognomonic palmar crease xanthomas of apolipoprotein E2 homozygosity-familial dysbetalipoproteinemia. JAMA Dermatol. 2016;152(11):1275–6. doi:10.1001/jamadermatol.2016.2223.PubMed
  • Santos MA, Foulke G. Koebnerization and eruptive xanthomas. J Gen Intern Med. 2019;34(9):1947–8. doi:10.1007/s11606-019-05178-1.PubMed
  • 僵硬的公里,科恩公关。拉斯维加斯(疣状genital-associated) xanthoma: A comprehensive literature review. Dermatol Ther (Heidelb). 2017;7(1):65–79. doi:10.1007/s13555-016-0155-0.PubMed Central
  • Tamiolakis P, Theofilou VI, Tosios KI, Sklavounou-Andrikopoulou A. Oral verruciform xanthoma: report of 13 new cases and review of the literature. Med Oral Patol Oral Cir Bucal. 2018;23(4):e429–35. doi:10.4317/medoral.22342.PubMed Central
  • Zak A, Zeman M, Slaby A, Vecka M. Xanthomas: clinical and pathophysiological relations. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2014;158(2):181–8. doi:10.5507/bp.2014.016.PubMed

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