Which physical findings are characteristic of xanthomas?

Updated: Jul 29, 2019
  • Author: Kara Melissa T Torres, MD, DPDS; Chief Editor: Dirk M Elston, MD  more...
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Answer

Cutaneous xanthomas associated with hyperlipidemia can be clinically subdivided into xanthelasma palpebrarum, tuberous xanthoma, tendinous xanthoma, eruptive xanthoma, planar xanthoma, and generalized plane xanthoma. A combination of the different types may occur. [61] A rare “cauliflower xanthoma” type may also be seen. [62] Cutaneous xanthomas may also raise the suggestion of the presence of cerebrotendinous xanthomatosis. [63]

Xanthelasma palpebrarum is the most common type of xanthoma. The lesions are asymptomatic and symmetric soft, velvety, yellow, flat, polygonal papules. They occur most commonly in the upper eyelids near the inner canthus. Giant xanthelasma palpebrarum may demonstrate extensive involvement of all four eyelids. [64] See the image below.

Xanthelasma. Courtesy of Duke University Medical C Xanthelasma. Courtesy of Duke University Medical Center.

Tuberous xanthomas are firm, painless, red-yellow nodules. The lesions can coalesce to form multilobated tumors and can be extensive. [65] Tuberous xanthomas usually develop in pressure areas, such as the extensor surfaces of the knees, the elbows, and the buttocks. They may rarely occur on the cheeks and nasal bridge. [66] See the image below.

Tuberous xanthomas. Courtesy of Duke University Me Tuberous xanthomas. Courtesy of Duke University Medical Center.

Tendinous xanthomas appear as slowly enlarging subcutaneous nodules related to the tendons or the ligaments. Atypical gout-tophi–like lesions over the great toe may occur. [67] The most common locations are the extensor tendons of the hands, the feet, and the Achilles tendons. The lesions are often related to trauma.

Eruptive xanthomas most commonly arise over the buttocks, the shoulders, and the extensor surfaces of the extremities. Rarely, the oral mucosa or the face may be affected. The lesions typically erupt as crops of small, red-yellow papules on an erythematous base. Pruritus is common, and the lesions may be tender. See the image below.

Eruptive xanthomas. Courtesy of Duke University Me Eruptive xanthomas. Courtesy of Duke University Medical Center.

Plane xanthomas are mostly macules; rarely, they form elevated lesions. They can occur in any site. Involvement of the palmar creases is characteristic of type III dysbetalipoproteinemia. Generalized plane xanthomas can cover large areas of the face. The neck, thorax, and flexures can also be involved.

Xanthoma disseminatum and verruciform xanthoma are particular forms of xanthomas that occur in normolipemic patients. [68, 69]

Xanthoma disseminatum presents in adults most commonly as red-yellow papules and nodules with a predilection for the flexures. They may unusually have extensive eyelid involvement. [34] It may rarely present as large plaques with indurated borders and as plaques with surrounding papules. [70] The mucosa is involved 40-60% of the time. [32]

Patients with diffuse plane xanthomatosis have yellow, symmetric, plaque-lesions over periorbital areas, neck, upper trunk, buttocks, and flexures. Unusual forms may present with oral lesions. [47, 71]

Verruciform xanthoma predominantly occurs in the oral cavity of adults as a solitary and asymptomatic papillomatous yellow lesion. They may also occur in the forearm, digits of hand and foot, anogenital area, and esophagus. [60, 72, 73, 74, 75, 76]


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