Cutaneous manifestations of familial hypercholesterolaemia

A 12-year-boy presented with multiple soft tissue swelling over the buttocks and feet, progressively increasing for last 4 years. Examination revealed multiple tuberous xanthomas of various sizes (2–8 cm diameter) studded over the buttocks (figure 1A; black arrows), multiple planar xanthomas over bilateral elbows and knees (figure 1B, C; white arrows), multiple tendinous xanthomas over the Achilles tendon, dorsum and lateral aspect of both feet (figure 1D; hollow black arrows), small xanthoma over the back of the left ear (figure 1F; hollow white arrow), xanthelasma over the lateral aspect of the right eyelid (figure 1G; hollow white arrow) and bilateral corneal arcus. Systemic examination was normal. Investigations showed elevated total cholesterol (TC) (15.98 mmol/L), elevated low-density lipoprotein (LDL) (12.92 mmol/L), normal triglycerides (0.89 mmol/L) and high-density lipoprotein (HDL) (0.98 mmol/L) normal glycaemia, liver and renal function. Echocardiography was normal. Mildly increased intima–media thickness of left common...

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