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Literature DB >> 18828009

Xanthoma of bone associated with lipoprotein lipase deficiency.

Tomoaki Torigoe¹, Atsuhiko Terakado, Yoshiyuki Suehara, Hisashi Kurosawa.

Abstract

Lipoprotein lipase (LPL) deficiency is an extremely rare congenital metabolic disorder with an accumulation of chylomicrons in the blood. We encountered a patient with an LPL deficiency leading to multiple bone xanthomas associated with hyperlipidemia. Radiographs and MRI of the humerus and femur revealed symmetrical bone lesions, and there is a possibility that these symmetrical lesions may therefore be a characteristic feature for this disorder.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2008 PMID： 18828009 DOI： 10.1007/s00256-008-0594-5

Source DB: PubMed Journal: Skeletal Radiol ISSN： 0364-2348 Impact factor: 2.199

11 in total

Review 1. Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases.

Authors: C Veyssier-Belot; P Cacoub; D Caparros-Lefebvre; J Wechsler; B Brun; M Remy; B Wallaert; H Petit; A Grimaldi; B Wechsler; P Godeau
Journal: Medicine (Baltimore) Date: 1996-05 Impact factor: 1.889

2. A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency.

Authors: T Gotoda; N Yamada; T Murase; S Miyake; R Murakami; M Kawamura; K Kozaki; N Mori; H Shimano; M Shimada
Journal: Biochim Biophys Acta Date: 1992-04-14

Xanthoma of bone associated with lipoprotein lipase deficiency.

Review 1. Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases.

2. A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency.

3. A Japanese patient with lipoprotein lipase deficiency homozygous for the Gly188Glu mutation prevalent worldwide.

4. Multimodality imaging features of primary xanthoma of the calcaneus.

5. Xanthoma of bone: first sign of hyperlipidemia type IIB: a case report.

6. Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.

7. Xanthoma of the sacrum.

8. Intraosseous xanthoma associated with hyperlipoproteinemia. A case report.

9. Xanthoma of bone.

10. Primary xanthoma of thoracic spine presenting with myelopathy.

1. Bilateral primary xanthoma of the humeri with pathologic fractures: A case report.

2. Primary xanthoma of calcaneus bone: Case report.