Literature DB >> 6543827

Lipomembranous osteodysplasia: a case report.

P Edvardsen, T B Halvorsen, O Nesse.   

Abstract

A case is reported of symmetrical cystic bone destruction in a young woman; in the affected areas bony tissue was replaced by a lipomembranous material and the lesions show unique features on electron and light microscopy. The patient suffered from skeletal pain and spontaneous fractures occurred in weightbearing bones. The bony disease was associated with psychiatric signs of leucoencephalopathy and brain atrophy. The aetiology is unknown, but it is possible that the condition may have a genetic basis. Treatment can only be directed towards the relief of symptoms.

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Year:  1983        PMID: 6543827     DOI: 10.1007/bf00266458

Source DB:  PubMed          Journal:  Int Orthop        ISSN: 0341-2695            Impact factor:   3.075


  3 in total

1.  Membranous lipodystrophy: a clinicopathological study of six cases.

Authors:  M Akai; A Tateishi; C H Cheng; K Morii; M Abe; T Ohno; M Ben
Journal:  J Bone Joint Surg Am       Date:  1977-09       Impact factor: 5.284

2.  Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia.

Authors:  H P Hakola
Journal:  Acta Psychiatr Scand Suppl       Date:  1972

3.  A lipid metabolic disease-"membranous lipodystrophy"-an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues.

Authors:  T Nasu; Y Tsukahara; K Terayama
Journal:  Acta Pathol Jpn       Date:  1973-08
  3 in total
  4 in total

Review 1.  Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia.

Authors:  A Verloes; P Maquet; B Sadzot; M Vivario; A Thiry; G Franck
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.

Authors:  P Pekkarinen; I Hovatta; P Hakola; O Järvi; M Kestilä; U Lenkkeri; R Adolfsson; G Holmgren; P O Nylander; L Tranebjaerg; J D Terwilliger; J Lönnqvist; L Peltonen
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

3.  Case report 381: Membranous lipodystrophy (MLD).

Authors:  U E Pazzaglia; F Benazzo; C Castelli; M Boiocchi; G Beluffi
Journal:  Skeletal Radiol       Date:  1986       Impact factor: 2.199

4.  Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.

Authors:  Juha Paloneva; Tuula Manninen; Grant Christman; Karine Hovanes; Jami Mandelin; Rolf Adolfsson; Marino Bianchin; Thomas Bird; Roxana Miranda; Andrea Salmaggi; Lisbeth Tranebjaerg; Yrjö Konttinen; Leena Peltonen
Journal:  Am J Hum Genet       Date:  2002-06-21       Impact factor: 11.025

  4 in total

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