Barraquer-Simons syndrome

Barraquer-Simons syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 9697
ICD10 = ICD9|272.6
ICD9 =
ICDO =
OMIM = 608709
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

Barraquer-Simons syndrome (or acquired partial lipodystrophy) is a rare form of lipodystrophy, which usually first affects the head, and then spreads to the thorax.cite journal |author=Ferrarini A, Milani D, Bottigelli M, Cagnoli G, Selicorni A |title=Two new cases of Barraquer-Simons syndrome |journal=Am. J. Med. Genet. A |volume=126 |issue=4 |pages=427-429 |year=2004 |pmid=15098243 |doi=10.1002/ajmg.a.20623] cite journal |author=Brănişteanu DD, Zbranca E |title=Barraquer-Simons syndrome. Report of a case and review of the literature |journal=Revista medico-chirurgicală̆ a Societă̆ţ̜ii de Medici ş̧i Naturaliş̧ti din Iaş̧i |volume=104 |issue=2 |pages=155-158 |year=2000 |pmid=12089983 |doi=]

It is named for Luis Barraquer Roviralta and Arthur Simons. [WhoNamedIt|synd|1565] [L. Barraquer Roviralta. Histoire clinique d'un cas d'atrophie du tissue cellulo-adipeux. Barcelona, 1906.] [A. Simons. Eine seltene Trophoneurose ("Lipodystrophia progressiva"). Zeitschrift für die gesamte Neurologie und Psychiatrie, Berlin, 1911, 5: 29-38.]

There is some evidence tying it to LMNB2.cite journal |author=Hegele RA, Cao H, Liu DM, "et al" |title=Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy |journal=Am. J. Hum. Genet. |volume=79 |issue=2 |pages=383-389 |year=2006 |pmid=16826530 |doi=10.1086/505885]

ee also

* Laminopathy

References


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