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Patient with familial partial lipodystrophy type 2

Patient with familial partial lipodystrophy type 2
FPLD of the Dunnigan variety resulting from a missense mutation in the LMNA gene that encodes lamins A and C. Note the loss of fat from the extremities and trunk and excess accumulation of fat in the face and neck.
FPLD: familial partial lipodystrophy.
Graphic 60538 Version 6.0