Familial partial lipodystrophy.
The lipodystrophies are rare disorders characterized by insulin resistance and the absence or loss of body fat. The 4 subtypes of lipodystrophy are characterized by onset and distribution. Partial lipodystrophy is rare, with loss of fat from the extremities and excess fat accumulation in the face and neck; recognizing this phenotype and subsequent referral for endocrinologic care may improve outcome and reduce mortality.
Patel
Purvisha
P
University of Virginia School of Medicine, Charlottesville, USA.
Starkey
Ralph
R
Maroon
Michele
M
D000052:Acanthosis Nigricans / Q000150:complications; D000328:Adult; D005260:Female; D006801:Humans; D008060:Lipodystrophy / Q000145:classification / Q000150:complications / Q000175:diagnosis* / Q000235:genetics