Serum lipoprotein deficiency in diffuse "normolipemic" plane xanthoma

Lindeskog, G. R.

doi:10.1001/archderm.106.4.529

Cited by 10 publications

(3 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…One case report, showing the histological features of xanthomas arising from an HDL deficiency status, documented the presence of T lymphocytes, as well as of clusters of foam cells with free and esterified cholesterol accumulation [28]. These features resemble those found in our study in A-IKO/EKO mice, thus suggesting that this genetically modified mouse line could represent a valid animal model for the study of this pathological skin condition.…”

Section: Discussionsupporting

confidence: 82%

High-density lipoprotein deficiency in genetically modified mice deeply affects skin morphology: A structural and ultrastructural study

Arnaboldi¹,

Busnelli

Cornaghi³

et al. 2015

Experimental Cell Research

View full text Add to dashboard Cite

Section: Discussionsupporting

confidence: 82%

High-density lipoprotein deficiency in genetically modified mice deeply affects skin morphology: A structural and ultrastructural study

Arnaboldi¹,

Busnelli

Cornaghi³

et al. 2015

Experimental Cell Research

View full text Add to dashboard Cite

“…In addition, hepatomegaly was present. No corneal opacities were present according to the first communication [24] but such opacities, seen in the slit lamp, were reported in the second one [25].…”

Section: Discussionmentioning

confidence: 92%

“…Clinically fish eye disease also differs from the recently described familial condition with low HDL and abnormal apolipoprotein A1 (A-I-Milano) as there were no clinical signs and symptoms at all in that condition [5]. Gustafson et al described one woman with a 'variant of apolipoprotein A deficiency' [24,25]. This patient was biochemically quite similar to Tangier disease with low HDL, absent al-lipoprotein band and plasma levels ofapo AI, apo A11 and apo D of l%, 20% and 50% respectively of normal.…”

Section: Discussionmentioning

confidence: 99%

Fish eye disease: a new familial condition with massive corneal opacities and dyslipoproteinaemia Clinical and laboratory studies in two afflicted families

Carlson

1982

Eur J Clin Investigation

114

View full text Add to dashboard Cite

Fish eye disease (FED) is characterized by severe corneal opacities, causing impaired vision, and dyslipoproteinaemia: hypertriglyceridaemia, raised levels of very low density lipoproteins (VLDL), triglyceride enrichment of low density lipoproteins (LDL) and reduction of high density lipoproteins (HDL). The disease is described in two unrelated families. In both there was a high proportion of low HDL in relatives without eye disease. VLDL, LDL and HDL had normal electrophoretic mobilities. The concentrations of VLDL cholesterol and triglycerides were increased fivefold. LDL cholesterol levels were normal but LDL triglycerides markedly increased. HDL cholesterol was reduced by 90% as were the levels of HDL apolipoproteins. The major part of HDL cholesterol was in the HDL3 fraction. FED HDL were smaller than normal with molecular weights of 115,000 daltons. Lecithin: cholesterol acyltransferase activity and amount of cholesterol esters in serum were normal. Postheparin lipoprotein and hepatic lipases showed normal or subnormal values. Clinically FED differs from other familial conditions with deficiency of HDL such as Tangier disease, LCAT-deficiency and Milano-AI-apoprotein disease. In spite of the extremely low HDL cholesterol FED is not characterized by premature atherosclerosis. Mechanisms for the dyslipoproteinaemia are discussed.

show abstract