This composite clinical photograph displays multiple cutaneous manifestations of xanthomas in a patient with homozygous familial hypercholesterolemia. The image is divided into four panels, each highlighting a different anatomical region with arrows pointing to the pathology. Top left: Ocular region showing xanthelasma palpebrarum, characterized by yellowish, slightly raised plaques on the upper and lower eyelids. Top right: Bilateral patellar region demonstrating tuberous xanthomas, which appear as firm, yellowish-orange nodules over the knees. Bottom left: Posterior view of the ankle showing a prominent tendon xanthoma of the Achilles tendon, presenting as a large, subcutaneous nodular thickening. Bottom right: Cubital fossa/elbow region showing a tuberoeruptive xanthoma with a wrinkled, raised, yellowish appearance over the extensor surface. Collectively, these findings illustrate the systemic deposition of cholesterol-rich material in skin and tendons, serving as a hallmark diagnostic sign for severe primary hyperlipidemia and associated cardiovascular risk.

This is a gross pathology photograph of an excised tuberous xanthoma from an 18-year-old female with familial hypercholesterolemia (type IIa). The specimen shows a solitary, well-circumscribed, nodular lesion removed from periarticular soft tissue around a knee (and noted at elbows and toes in the clinical history). On gross inspection, the cut surface is homogeneously pale to yellow-orange, soft, and slightly lobulated, with a glossy, lipid-rich appearance consistent with lipid-laden macrophage infiltration. Histology is diagnostic of xanthoma, characterized by dense aggregates of foamy macrophages (lipid-laden histiocytes) in the dermis/subcutaneous tissue with accompanying chronic inflammatory infiltrate and varying degrees of fibrosis in long-standing lesions. The lipid-rich cytoplasm creates the characteristic yellow hue. Systemic findings include elevated total cholesterol and LDL cholesterol with normal triglycerides, VLDL, and HDL; thyroid function is normal. This phenotype corresponds to familial hypercholesterolemia, type IIa, typically due to LDL receptor or ApoB gene defects. Xanthomas are not neoplasms but reactive lipid deposits that reflect prolonged hyperlipidemia and local tissue remodeling. Clinically relevant implications include increased risk of premature atherosclerotic cardiovascular disease, guiding lipid-lowering therapy and family screening. Correlation with histologic confirmation supports diagnosis and informs genetic counseling, lifestyle modification, and pharmacotherapy, such as statins, PCSK9 inhibitors, or ezetimibe.

This composite of three clinical photographs displays classic dermatological manifestations of Familial Hypercholesterolemia (FH). Panel (a) shows bilateral Achilles tendon xanthomas, presenting as large, firm, rounded subcutaneous swellings at the posterior aspect of the heels that significantly distort the local anatomy. Panel (b) illustrates a tuberous xanthoma on the elbow, characterized by a large, well-circumscribed, flesh-colored to slightly yellowish nodular protrusion with a smooth overlying surface. Panel (c) shows the plantar aspect of the foot, demonstrating planar xanthomas that cause diffuse thickening and yellowish discoloration of the sole, along with a visible vertical surgical incision line with sutures. These findings are highly characteristic of severe hyperlipidemia, specifically FH, where lipid deposits accumulate in the skin and tendons. The images serve as an educational reference for identifying physical stigmata of lipid metabolism disorders in a clinical setting.

This composite of four clinical photographs (labeled A-D) illustrates the dermatological and musculoskeletal manifestations of Familial Hypercholesterolemia (FH) in a pediatric patient. Panel A displays large, bilateral, yellowish-tan cutaneous xanthomas on the buttocks and upper thighs, characterized by irregular borders and a plaque-like distribution. Panel B shows a distinct, yellowish-tan nodule with a roughened surface over the extensor surface of the elbow, consistent with a tuberous xanthoma. Panel C depicts the dorsal aspect of a hand with several small, raised, yellowish cutaneous xanthomas located on the fingers and interdigital webs. Panel D reveals a prominent, elongated yellowish nodule overlying the Achilles tendon, indicative of a tendinous xanthoma. Red arrows in each panel highlight the specific lesions. These clinical findings are hallmark physical signs of severe lipid metabolic disorders, representing localized accumulations of lipid-laden macrophages (foam cells) in the skin and tendons due to extreme hyperlipidemia.

This composite clinical photograph displays multiple cutaneous manifestations of xanthomas in a patient with homozygous familial hypercholesterolemia. The image is divided into four panels, each highlighting a different anatomical region with arrows pointing to the pathology. Top left: Ocular region showing xanthelasma palpebrarum, characterized by yellowish, slightly raised plaques on the upper and lower eyelids. Top right: Bilateral patellar region demonstrating tuberous xanthomas, which appear as firm, yellowish-orange nodules over the knees. Bottom left: Posterior view of the ankle showing a prominent tendon xanthoma of the Achilles tendon, presenting as a large, subcutaneous nodular thickening. Bottom right: Cubital fossa/elbow region showing a tuberoeruptive xanthoma with a wrinkled, raised, yellowish appearance over the extensor surface. Collectively, these findings illustrate the systemic deposition of cholesterol-rich material in skin and tendons, serving as a hallmark diagnostic sign for severe primary hyperlipidemia and associated cardiovascular risk.

This composite clinical photograph illustrates hallmark physical manifestations of Familial Hypercholesterolemia (FH). Panel A presents a posterior view of the ankles, demonstrating bilateral Achilles tendon thickening (tendon xanthoma), indicated by red arrows. Panel B shows the extensor surface of the elbow featuring cutaneous xanthomas, which appear as raised, yellowish, irregularly shaped plaques on the skin surface. Panel C provides a close-up clinical view of the eye, revealing arcus corneae (arcus senilis), characterized by a distinct grayish-white opaque ring or arc at the periphery of the cornea. These findings are classic clinical markers for severe hyperlipidemia, often associated with genetic mutations in the LDL receptor. The image serves as an educational tool for identifying the external stigmata of lipid metabolism disorders in a pediatric or adult patient.

A multi-panel clinical photograph collection documenting physical manifestations of homozygous familial hypercholesterolemia (HoFH) and the effects of lipoprotein apheresis. Image A shows arcus lipoides (corneal arcus), characterized by a hazy, whitish-gray lipid ring at the corneal periphery. Image B demonstrates tuberous xanthomas on the extensor surface of the elbow, appearing as firm, yellowish-orange nodules. Image C illustrates tendon xanthomas, specifically bilateral thickening and prominence of the Achilles tendons. Panels D-1 through D-3 provide a longitudinal view of cutaneous xanthomas on the extensor surface of the knee. D-1 shows multiple eruptive and tuberous xanthomas before starting apheresis. D-2 shows the progression after a three-year discontinuation of apheresis, with significant enlargement and confluence of the nodules. D-3 demonstrates near-complete resolution of the xanthomas following three years of regular apheresis, with only residual skin hyperpigmentation. These images collectively serve as educational material for the dermatological and ophthalmological signs of severe hyperlipidemia and the visible efficacy of lipid-lowering interventions.