Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011849 (diabetes)
277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Eruptive xanthomas in adults are usually indicative of chylomicronemia. Although diabetes mellitus is the most common secondary cause of chylomicronemia, which is designated as diabetic lipemia, the clinical characteristics of diabetes with regard to development of xanthomas are not well defined. In this paper, we describe a young female who displayed eruptive xanthomas as an initial manifestation of diabetic lipemia. The patient was a 20-year-old female with a body mass index of 18.9 kg/m2 and Marfanoid appearance. Her past history was unremarkable, except for patent ductus arteriosus and mild mental retardation. She was admitted to our division for eruptive xanthomas on the extremities and marked hyperglycemia (random glucose, 520 mg/dl) and hypertriglyceridemia (6880 mg/dl). She was diagnosed with Type 2 diabetes based on the positive family history of diabetes, residual secretory capacity of insulin, and absence of autoantibodies related to Type 1 diabetes. Based on the increase in the concentrations of both chylomicrons and very low density lipoproteins, type V hyperlipoproteinemia was diagnosed. After the initiation of insulin therapy, both hypertriglyceridemia and eruptive xanthomas subsided, without administering any hypolipidemic agents. Minimal model analysis of a frequently sampled intravenous glucose tolerance test revealed severe insulin resistance, despite the absence of obesity. Post-heparin lipoprotein lipase (LPL) activity was moderately decreased, and common mutations in the LPL gene were not demonstrated by genetic screening. The apolipoprotein E phenotype was E4/4, which is known to be associated with type V hyperlipoproteinemia. Hypoadiponectinemia of 1.7 microg/ml was also revealed, which may, in part, account for the insulin resistance and decreased LPL activity. In conclusion, the clustering of apolipoprotein E4/4 and hypoadiponectinemia, in addition to insulin resistance and poor glycemic control, might have resulted in hypertriglyceridemia with eruptive xanthomatosis in this subject.
Diabetes Res Clin Pract 2005 Nov
PMID:Diabetic lipemia with eruptive xanthomatosis in a lean young female with apolipoprotein E4/4. 1618 78

Eruptive xanthomas are often associated with elevated plasma levels of triglyceride-rich lipoproteins and may be a marker for occult hyperlipidemia, diabetes mellitus or pancreatitis. A 42-year-old woman presented with the acute onset of disseminated eruptive xanthomas secondary to hyperlipidemia associated with diabetes and concomitant acute pancreatitis. She improved after optimized insulin therapy and intensified treatment of hyperlipidemia. Eruptive xanthomas should be diagnosed early and lead to further metabolic evaluations.
...
PMID:[Eruptive xanthomas with hypertriglyceridemia]. 1856 77

Severe hypertriglyceridemia can cause the deposit of lipids in the dermis (eruptive xanthomas) and in the retina (lipemia retinalis). Lipemia retinalis and eruptive xanthoma are occasionally seen in patients with diabetes mellitus and are thought to be due to abnormalities in the serum lipid fractions. Here a 15 year's old girl presented with typical symptoms of diabetes with skin lesions over hands and feet. On examination skin lesions were non-tender yellow papules with creamy-colored centers on extensor surfaces of the arms, hands and feet. Ophthalmoscopic examination showed creamy white retinal vessels with a faded pinkish white retinal back ground both in the periphery and posterior pole of the retina. Laboratory findings showed a grossly lipemic serum with markedly elevated serum levels of triglycerides 8869mg/dl cholesterol 498mg/dl. Her fasting blood glucose was 20.8mmol/l, 2 hours after breakfast was 50.5mmol/l and HbA1c was 14.6%. Eruptive xanthomas and lipaemia retinalis can occur in primary and secondary hyperlipoproteinemias, therefore a careful personal and family history as well as laboratory investigations is recommended in order to detect an underlying cause.
...
PMID:Hypertriglyceridemia associated with eruptive xanthomas and lipemia retinalis in newly diagnosed diabetes mellitus. 2398 56

Berardinelli-Seip syndrome is a rare autosomal recessive disease characterized by inadequate metabolism and inefficient storing of lipids in fat cells, generating accumulation of fat in organs such as the liver, spleen, pancreas, heart, arterial endothelium and skin. Classically, patients manifest generalized lipoatrophy at birth or until 2 years of age, and in adolescence usually develop marked insulin resistance with rapid progression to diabetes and dyslipidemia. We report the case of a 17-year-old Berardinelli-Seip syndrome patient with eruptive xanthoma associated with severe hypertriglyceridemia. It is worth noting Eruptive xanthoma as a dermatological manifestation that is not generally highlighted in the reports of cases of this genetic metabolic disorder.
...
PMID:Do you know this syndrome? Berardinelli-Seip syndrome. 2447 21

Eruptive xanthomas are cutaneous manifestations of hyperlipidemias in which lipids accumulate in large foam cells within the skin. They classically present as crops of 1- to 4-mm yellow-orange papules and are often associated with extreme hypertriglyceridemia. We describe a 12-year-old boy with autism who was thought to have widespread molluscum contagiosum for a year before dermatologic consultation was obtained. Recognition of eruptive xanthomas led to the discovery of massive hypertriglyceridemia (serum triglycerides 6853 mg/dL) and diabetes mellitus. Through medical intervention, including insulin and fenofibrate therapy, and dietary modification with weight loss, the xanthomas cleared during the subsequent months, and his serum triglyceride levels nearly normalized.
...
PMID:Eruptive xanthomas masquerading as molluscum contagiosum. 2491 25

Eruptive xanthoma (EX) is a very rare dermatosis mostly occurring due to high levels of serum triglycerides or uncontrolled diabetes mellitus. When EX is encountered, it is important to keep in mind that it could be a sign of severe underlying metabolic derangements. Early recognition can help avoid serious complications such as pancreatitis. After treatment of the underlying metabolic disorders, lesions mostly disappear without leaving scars. We present a case of a 55-year-old woman who presented with solely EX lesions and who was eventually diagnosed with diabetes mellitus and severe hypertriglyceridaemia.
...
PMID:First and only symptom of undiagnosed diabetes mellitus: eruptive xanthoma. 2640 50

Eruptive xanthomas are benign skin lesions caused by localised deposition of lipids in the dermis. Xanthomas can present as early manifestations of systemic disorders, which are typically caused by elevated levels of serum triglycerides and uncontrolled diabetes. Early recognition and treatment of the underlying condition decreases morbidity and mortality. After treatment of the underlying metabolic disorders, lesions mostly disappear without leaving scars. We present a case with multiple yellowish, erythematous papules on the extremities suggestive of eruptive xanthomas admitted to our hospital with acute pancreatitis.
...
PMID:Acute pancreatitis with eruptive xanthoma. 2901 45

Eruptive xanthoma is characterized by yellowish skin papules encircled by an erythematous halo and associated with severe hypertriglyceridemia above 2,000 mg/dl. Hypertriglyceridemia can be caused by primary genetic mutations, secondary causes, such as uncontrolled diabetes, obesity, alcohol overuse, or combinations of both. Eruptive xanthoma can serve as an important clinical indicator of underlying systemic conditions (e.g. hypertriglyceridemia and uncontrolled diabetes mellitus). It is important for clinicians to recognize it to prevent further complications such as pancreatitis and cardiovascular disease.
...
PMID:Eruptive xanthoma associated with severe hypertriglyceridemia and poorly controlled type 1 diabetes mellitus. 3152 86