Xanthelasma 1_1012 Derm Dx
Xanthelasma 2_1012 Derm Dx
A 66-year-old male presents complaining of yellowish papules on his eyelids that have been present for several years. The papules are asymptomatic, but he is bothered by the cosmetic appearance.
The patient’s past medical history is significant for allergic rhinitis, for which he takes occasional antihistamines. There is no family history of early coronary artery disease, stroke or skin disorders.
A check-up by his primary care physician revealed no significant abnormalities. Blood tests including hemoglobin A1C and thyroid studies, and a lipid panel, including HLD, LDL and triglycerides levels, are normal.
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Xanthomas may develop as a consequence of an underlying defect in lipid metabolism or more rarely as the result of a paraproteinemia. Both the form of the xanthoma, and the location of the lesions may provide clues to the underlying abnormality.
This patient was diagnosed with exanthelasma, a form of plane xanthoma and the most common type of xanthoma. The individual lesions appear as orange-yellow papules and plaques on the eyelids, most commonly near the inner canthi, and frequently occur during middle age.
Hyperlipidemia occurs in 50% of patients with xanthelasma, so lipid studies should be performed in all patients. In this case, the patient’s lipid levels were normal, but the characteristic appearance of these lesions is pathognomonic for xanthelasma.
The most common lipid abnormality associated with xanthelasma is elevated LDL. Rarely, xanthelasma is associated with familial disorders of lipid metabolism, including familial hypercholesterolemia and familial dysbetalipoproteinemia. These conditions are described in more detail below.
The three most common familial lipid metabolism disorders are familial lipoprotein lipase (LPL) deficiency, familial hypercholesterolemia and familial dysbetalipoproteinemia.
Familial LPL deficiency is an autosomal recessive disorder caused by a deficiency in lipoprotein lipase — an enzyme which helps to remove triglycerides from the bloodstream. Patients have highly elevated serum triglyceride levels and may present with eruptive xanthomas, which appear as yellowish to reddish papules that erupt in crops over the entire body, favoring the extensor surfaces.
Other conditions that may lead to elevated triglycerides and subsequent eruptive xanthomas include obesity, chronic renal disease, diabetes, hypothyroidism and use of medications, such as estrogen, systemic retinoids and systemic corticosteroids.
Familial hypercholesterolemia is an autosomal dominant disorder caused by defects in the LDL receptor responsible for LDL clearance in the bloodstream. Patients will therefore have highly elevated LDL levels and are at risk for severe atherosclerosis.
Several types of xanthoma may be present in familial hypercholesterolemia, including tendinous, tuberous and plane xanthomas. Plane xanthomas are yellowish-orange plaques and patches, that in familial hypercholesterolemia, are typically found in intertriginous areas and between the finger-web spaces. Xanthelasma may also be present in familial hypercholesterolemia.
Tendinous xanthomas are lipid deposits affecting the Achilles tendon and the extensor tendons of the fingers, elbows and knees. Tuberous xanthomas present as firm pink-yellow nodules, and are found most commonly on the elbows and knees.
Familial dysbetalipoproteinemia is an autosomal dominant disorder caused by a defect in the Apo E protein, which leads to accumulation of both LDL and triglycerides. Patients with this disorder are also at risk for severe atherosclerosis. In dysbetalipoproteinemia all forms of xanthoma may be present including eruptive, tuberous, tendinous and plane, with the palmar creases being the most commonly affected area.
Diagnosis & Treatment
Xanthelasma diagnosis is made by the clinical appearance of yellow-orange plaques on the eyelids. Elevated LDL occurs in 50% of patients. Biopsy is rarely required. Treatment includes surgical excision, fulgeration and ablative laser surgery with erbium:YAG or CO2 laser.
Adam Rees, MD, is a graduate of the University of California Los Angeles School of Medicine and a resident in the Department of Dermatology at Baylor College of Medicine in Houston.
- Bolognia J, Jorizzo JL, Rapini RP. “Chapter 91: Xanthomas.” Dermatology. St. Louis, Mo.: Mosby/Elsevier, 2008.
- James WD, Berger TG, Elston DM et al. “Chapter 26: Errors in Metabolism.” Andrews’ Diseases of the Skin: Clinical Dermatology. Philadelphia: Saunders Elsevier, 2006.