Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Barraquer-Simons Syndrome
Introduction
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.[1][2]
It is named for Luis Barraquer Roviralta and Arthur Simons.[3][4][5]
There is some evidence tying it to LMNB2.[6]
References
References
- ↑ 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): 427–429. doi:10.1002/ajmg.a.20623. PMID 15098243.
- ↑ BrăniÅŸteanu 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): 155–158. PMID 12089983.
- ↑ Template:WhoNamedIt
- ↑ 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.
- ↑ 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): 383–389. doi:10.1086/505885. PMID 16826530.