Familial partial lipodystrophy

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Familial partial lipodystrophy (also known as "Köbberling–Dunnigan syndrome"[1]) is an autosomal dominant skin condition characterized by the loss of subcutaneous fat.[2]:495

Familial partial lipodystrophy also refers to a rare condition in which there is a loss of subcutaneous fat in the upper section of the body, face to trunk, however the lower half of the body remains unaffected.

OMIM Name Locus
608600 FPLD1 (Kobberling-type, loss from extremities)  ?
151660 FPLD2 (Dunnigan-type, loss from limbs and trunk) LMNA; 1q21.2
604367 FPLD3 PPARG; 7q11.23-q21.11, 3p25

Type 1 is believed to be underdiagnosed.[3]

See also

Lipodystrophy Patient Registry - register to learn from the community!

References

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