Xanthomas Clinical Presentation

Updated: Dec 15, 2017
  • Author: Kara Melissa T Torres, MD, DPDS; Chief Editor: Dirk M Elston, MD  more...
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A family history of xanthomas, history of myocardial infarction, aortic regurgitation, atherosclerosis, and even pancreatitis may be encountered in patients with cutaneous xanthomas. [15, 16, 17, 18] Normolipemic forms of tuberous xanthomas and drug-induced tuberous and tendinous xanthomas are uncommon but may occur. [19, 20, 21] Large solitary planar xanthomas may rarely be associated with chronic myelomonocytic leukemia, non–Langerhans cell disease, mastocytoma, and ultraviolet irradiation exposure. [22, 23, 24, 25] Rarely, xanthomas may be associated with the POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein skin changes) syndrome, systemic sarcoidosis, and nonsyndromic paucity of interlobular bile ducts. [26, 27, 28] Cutaneous manifestations may also precede a diagnosis of hyperlipidemia, which may be primary or secondary. If diagnosed in children with pruritus as a symptom, clinicians should investigate the possibility of cholestasis of the liver. [29]

Patients with xanthoma disseminatum may present with symptoms of dysphagia, dyspnea, and obstructive blindness, depending on the involved site. [30, 31, 32] There may be rare gastrointestinal, central nervous system, musculoskeletal, and intracranial involvement. [33, 34, 35, 36] Exceptional cases are those forms that are multisystemic yet asymptomatic and those associated with the Koebner phenomenon. [37, 38] The disease may be persistent and progressive, or it may be self-limited with spontaneous resolution. [39, 14] Diffuse plane xanthomatosis is most commonly associated with lymphoproliferative disorders, monoclonal gammopathies, and hematological malignancies. [40, 41] Xanthoma disseminatum without any underlying abnormality is rare but may occur. [42] It may be infrequently linked with mycosis fungoides, Budd-Chiari syndrome, Hand-Schüller-Christian disease, or rheumatoid arthritis. [43, 44, 45, 46]

Verruciform xanthoma may be associated with lichen planus, Paget disease, epidermal nevus, discoid lupus erythematosus (DLE), pemphigus vulgaris, recessive dystrophic epidermolysis bullosa (RDEB), chronic graft versus host disease (GVHD), actinic keratosis, squamous cell carcinoma, CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome, post psoralen with ultraviolet A (PUVA) phototherapy, post radiation therapy, and post hematopoietic stem cell transplantation (HSCT). [9, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57] Rarely, they may occur without an underlying disease or syndrome. [58]


Physical Examination

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. [59] A rare “cauliflower xanthoma” type may also be seen. [60] Cutaneous xanthomas may also raise the suggestion of the presence of cerebrotendinous xanthomatosis. [61]

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. [62] 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. [63] 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. [64] 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. [65] 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. [66, 67]

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. [32] It may rarely present as large plaques with indurated borders and as plaques with surrounding papules. [68] The mucosa is involved 40-60% of the time. [30]

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. [45, 69]

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. [58, 70, 71, 72, 73, 74]