Lipoprotein lipase deficiency  is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides, which in turn causes stomach pain and deposits of fat under the skin, and which can lead to problems with the pancreas and  liver, which in turn can lead to diabetes. The disorder only occurs if a child acquires the defective gene from both parents (it is  autosomal recessive). It is managed by restricting fat in diet to less than 20 g/day. Signs and symptoms
The disease often presents in infancy with colicky pain, failure to thrive, and other symptoms and signs of the chylomicronemia syndrome. In women the use of estrogens or first pregnancy are also well known trigger factors for initial manifestation of LPLD. At all ages, the most common clinical manifestation is recurrent abdominal pain and acute pancreatitis. The pain may be epigastric, with radiation to the back, or it may be diffuse, with the appearance of an emergent acute abdomen. Other typical symptoms are eruptive xanthomas (in about 50% of patients), lipaemia retinalis and hepatosplenomegaly. Complications
Patients with LPLD are at high risk of acute pancreatitis, which can be life-threatening, and can lead to chronic pancreatic insufficiency and diabetes. Diagnosis
Lab tests show massive accumulation of chylomicrons in the plasma and corresponding severe hypertriglyceridemia. Typically, the plasma in a fasting blood sample appears creamy (plasma lactescence).Familial LPL deficiency should be considered in anyone with severe hypertriglyceridemia and the chylomicronemia syndrome.
Trichilemmal carcinoma  is a cutaneous condition reported to arise on sun-exposed areas, most commonly the face and ears. : 674

See also
Trichilemmoma
Skin lesionA similar tumor, although in the nail bed, is called onycholemmal. References


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