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Xanthoma tuberosum - Skin
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Xanthoma tuberosum - Skin

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Contributors: Laurie Good MD, Jeffrey D. Bernhard MD, Noah Craft MD, PhD, Lindy P. Fox MD, Lowell A. Goldsmith MD, MPH, Michael D. Tharp MD
Other Resources UpToDate PubMed

Synopsis

Tuberous xanthomas are fatty growths of the skin that indicate an underlying disorder of lipid and/or cholesterol metabolism. They typically appear as pink-yellow papules or nodules on extensor surfaces such as the knees and elbows and are considered to represent a continuum along with tuberoeruptive xanthomas, which are smaller than tuberous xanthomas. The underlying lipoprotein disorder may be either familial dysbetalipoproteinemia (FD) or familial hypercholesterolemia (FH). Both are autosomal dominant inherited disorders, and 80% of patients with FD have tuberous / tuberoeruptive xanthomas, making these the most common cutaneous presentations of FD. Heterozygous cases of FH 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:
Children are not affected by tuberous xanthomas unless they have the rare homozygous form of FH.

Codes

ICD10CM:
E78.2 – Mixed hyperlipidemia

SNOMEDCT:
238954002 – Tuberous xanthoma

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

A skin biopsy can differentiate a xanthoma from other cutaneous processes that may look similar clinically, such as 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: 11/12/2013
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Xanthoma tuberosum - Skin
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Xanthoma tuberosum : Elbow, Elbows and/or knees, Hypercholesterolemia, Knee, Pink color, Yellow color, Smooth papules, Smooth nodules
Clinical image of Xanthoma tuberosum
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