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Dermatology spot diagnosis
  1. P Maheux
  1. Division of Endocrinology and Metabolism, Université de Sherbrooke, 3001 12th Avenue North, Sherbrooke, Québec, Canada J1H 5N4;

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    A 25 year old otherwise healthy man presented with painless lesions on the palmar side of both hands (fig 1A) and elbows (fig 1B). He was not taking any medication and his family history was negative. Laboratory studies disclosed the following values: total cholesterol 24.0 mmol/l (N: 3.8–5.2), triglycerides 17.4 mmol/l (N: 0.6–2.3), HDL-C 0.80 mmol/l (N ⩾0.90). Serum was lactescent at 4°C after a night in hospital. Serum aspartate aminotransferase, alanine aminotransferase, and thyroid stimulating hormone were normal. A lipoprotein electrophoresis showed the presence of a broad β band (cholesterol enriched chylomicron and VLDL remnants). The apo E genotype was confirmed to be E2/E2. Dysbetalipoproteinaemia (type III hyperlipoproteinaemia, broad-beta disease, or remnant removal disease) is a rare disorder affecting 1:5000 to 1:10 000 persons and is in part attributable to a mutation in the APOE gene resulting in reduced uptake of apo E-containing lipoproteins by the liver and impaired conversion of VLDL and IDL to LDL.1,2 The manifestations include tuberous xanthomas, deposits of cholesterol in the palmar creases (also called striae palmaris or xanthoma striata palmaris), and severe mixed hyperlipidaemia.3 Risk of atherosclerosis and its complications is increased, with onset in the fourth and fifth decade. Hypothyroidism and diabetes are known to be precipitating factors. Treatment of this condition is essentially lipid lowering diet complemented with lipid lowering drug treatment and avoidance of alcohol, oestrogens, and triglyceride raising agents.4 The patient was treated with a fibrate and a HMG CoA reductase inhibitor; his xanthomas have completely regressed.

    Figure 1

     (A) Lesions on palmar face of both hands and (B) papules on extension side of left elbow (obtained with patient’s permission).