Barraquer-Simons disease

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Barraquer-Simons disease
ICD-10 272.6
OMIM 608709
DiseasesDB 9697

Barraquer-Simons disease (or acquired partial lipodystrophy) is a form of lipodystrophy, which usually first affects the head, and then spreads to the thorax.[1][2]

It is named for Luis Barraquer Roviralta and Arthur Simons.[3][4][5]

There is some evidence tying it to LMNB2.[6]

See also

References

  1. Ferrarini A, Milani D, Bottigelli M, Cagnoli G, Selicorni A (2004). "Two new cases of Barraquer-Simons syndrome". Am. J. Med. Genet. A. 126 (4): 427–9. doi:10.1002/ajmg.a.20623. PMID 15098243.
  2. Brănişteanu DD, Zbranca E (2000). "Barraquer-Simons syndrome. Report of a case and review of the literature". Revista medico-chirurgicală̆ a Societă̆ţ̜ii de Medici ş̧i Naturaliş̧ti din Iaş̧i. 104 (2): 155–8. PMID 12089983.
  3. synd/1565 at Who Named It
  4. L. Barraquer Roviralta. Histoire clinique d'un cas d'atrophie du tissue cellulo-adipeux. Barcelona, 1906.
  5. A. Simons. Eine seltene Trophoneurose ("Lipodystrophia progressiva"). Zeitschrift für die gesamte Neurologie und Psychiatrie, Berlin, 1911, 5: 29-38.
  6. Hegele RA, Cao H, Liu DM; et al. (2006). "Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy". Am. J. Hum. Genet. 79 (2): 383–9. doi:10.1086/505885. PMID 16826530.



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