Giant tuberous xanthomas in a case of type IIA hypercholesterolemia

Abstract

Tuberous xanthomas are papulonodular skin lesions present in lipoprotein metabolism disorders. A patient presented with multiple large swellings (up to 20 cm in size) all over the body, which on excision were found to be tuberous xanthomas. Investigations revealed the diagnosis of familial hypercholesterolemia. This case is reported to document the unusual presentation of giant tuberous xanthomas.

Extensive giant tuberous xanthomas in a 12-year-old boy

“…[5] In addition to these, primitive mesenchymal cells, elongated perivascular, fibroblast-like cells, and lysosome filled macrophages can be found, indicating possible stages in the evolution of dermal mesenchymal cells into mature, cholesterol-rich, foam cells. [2] It may reveal cholesterol clefts, as seen in our case. Diagnosis is made by thorough history, lipid profile, and histopathology of the lesions.…”

“…[1] Xanthomas are characterized by plaques, papules, or nodules with accumulation of lipid laden macrophages that develop in the skin and subcutaneous tissue. [2]…”

“…[6] Pharmacotherapy includes statins, bile acid sequestrants, ezetimibe, and niacin that affect various steps in the pathways of cholesterol absorption and metabolism. [2] The most common medication is a statin in combination with a cholesterol absorption inhibitor; a third drug such as a bile acid sequestrant is added if needed. [2] Early diagnosis and treatment of this condition helps in preventing the development of early coronary artery disease.…”

“…[2] The most common medication is a statin in combination with a cholesterol absorption inhibitor; a third drug such as a bile acid sequestrant is added if needed. [2] Early diagnosis and treatment of this condition helps in preventing the development of early coronary artery disease. [5]…”

Squamous cell carcinoma developing in a long-standing case of tuberous xanthoma: An incident unreported hitherto

“…Tuberous xanthomas start as small xanthomas, usually over the extensor aspects of the elbow and knees, occasionally these can be of large size when they are called giant tuberous xanthomas. [ 14 ] They develop over pressure areas such as heels and plantar surface of feet, and rarely in the bone marrow. However, atypical locations of tuberous xanthoma such as upper eyelids[ 15 ] have also been reported.…”