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Xanthoma tendinosum
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Xanthoma tendinosum

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Contributors: Laurie Good MD, Lowell A. Goldsmith MD, MPH
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Synopsis

Tendinous xanthomas (xanthoma tendinosum) are fatty deposits on tendons under the skin that almost always indicate an underlying disorder of lipid metabolism. They typically appear as smooth, firm nodules overlying extensor tendons of the elbows, knees, or hands or, classically, the Achilles tendon, and the skin overlying these nodular deposits is normal.

The underlying lipid disorder may be familial dysbetalipoproteinemia (FD), familial hypercholesterolemia (FH), or hepatic cholestasis. Rarely, patients can develop tendinous xanthomas in the absence of the above disorders, such as in the cases of β-sitosterolemia and cerebrotendinous xanthomatosis (CX). The substance of deposition in β-sitosterolemia is plant sterol, and in the case of CX it is an intermediate from the bile acid synthesis pathway called cholestanol, which gets deposited in almost all tissues in patients with CX.

Patients with CX will present with intellectual disability, cataracts, and / or neurologic symptoms and require prompt therapy to prevent irreversible neurologic damage. The genetic defect responsible for CX is an autosomal recessive mutation in the sterol 27-hydroxylase gene.

The most common cause of tendinous xanthoma is FH, and involvement of Achilles tendon is specific for FH. In FH, heterozygous cases occur in 1 of every 500 people worldwide, whereas homozygous cases occur in 1 of every one million people worldwide. Many treatment options exist for heterozygotes, while heroic interventions are necessary for homozygotes.

Pediatric Patient Considerations:
Not seen in children unless the rare form of homozygous FH is present in the patient or the patient has CX. In either case, a child with tendinous xanthomas requires prompt evaluation and medical treatment to prevent irreversible disease sequelae.

Codes

ICD10CM:
E75.5 – Other lipid storage disorders

SNOMEDCT:
69880002 – Xanthoma tendinosum

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Xanthomas can be differentiated from other cutaneous processes through history, ultrasound, aspiration cytology, and/or biopsy.

The entities that present most similarly include the following:

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated: 10/01/2018
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Xanthoma tendinosum
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Xanthoma tendinosum : Ankle, Elbow, Extensor distribution, Hypercholesterolemia, Knee, Hands, Smooth nodules
Clinical image of Xanthoma tendinosum
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