Cutaneous Clues to a Systemic Secret: Extensive Xanthomas

A 21-year-old woman presented with numerous yellowish to skin-colored plaques and nodules on her neck, elbows, knees, buttocks, and trunk, noted since the age of 3 years. These asymptomatic lesions included eruptive, tendinous, and tuberous xanthomas, with xanthelasma on her eyelids [Figure 1]. Dermoscopy of an eruptive xanthomatous lesion showed pale-yellow globules in pebbled clusters [Figure 2], and foamy histiocytes were seen on histopathology. Laboratory tests revealed raised total cholesterol (538 mg/dL), raised low-density lipoprotein (525 mg/dL), and low high-density lipoprotein. A diagnosis of familial hypercholesterolemia (FH) was made, and first-degree family members were screened for any cutaneous or cardiovascular involvement, but no abnormality was found in any one of them.[1] Her cardiovascular system-related history and examination, along with electrocardiogram and echocardiogram were normal. She was kept under regular follow-up in view of the risk of premature atherosclerosis and cardiovascular complications associated with FH.[2]Figure 1: (a) Clinical picture showing multiple eruptive xanthomas on the neck, (b) tuberous xanthoma on the elbow, and (c and d) tendinous xanthomas along with eruptive xanthomas on hands and feet causing deformitiesFigure 2: Dermoscopy of eruptive xanthoma showing pale-yellow irregular globules in a pebbled cluster [DermLite DL4, polarised mode, 10×]Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest. Use of artificial intelligence (AI) The preparation of this manuscript was carried out entirely by the authors without the use of artificial intelligence technologies.