Xanthoma tuberoeruptive

Patients with extremely elevated serum triglycerides (greater than 1,000 mg/dL [11.3 mmol/L]) can develop pancreatitis and tuberoeruptive xanthomas. 

Tuberoeruptive xanthomas Small yellow-red raised papules usually presenting on the elbows, knees, back, and buttocks. 

This disorder has a late onset it rarely manifests itself in childhood. The most distinctive clinical presentation of dysiipoproteinemia is the presence of palmar xanthomas, the yellow deposits that occur in the creases of the palms. Tuberous and tuberoeruptive xanthomas also occur but are not unique to this syndrome. Premature atherosclerosis develops in 30% to more than 50% of these patients, particularly in the lower extremities. ... 

A unique kindred with premature cardiovascular disease, tuberoeruptive xanthomas, and, phenotypically, a type HI hyperlipoproteinemia, was found to have familial Apo E deficiency [13]. VLDL were markedly enriched in cholesterol in the homozygotes, and these same patients had only minimal amounts of Apo E, with accumulation of Apo B-48 and Apo A-IV in VLDL and LDL. In heterozygotes, plasma lipid levels were normal with mean plasma Apo E concentrations about 42% of normal. With the help of turnover studies it has been possible to show that a homozygous proband had a marked delay in the fractional catabolism of VLDL Apo B-lOO, B-48, and E, together with an extremely low Apo E synthetic rate, compared to normal subjects (Fig. 2) [31]. 

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