Familial partial lipodystrophy, Kobberling type
Familial partial lipodystrophy, Kobberling type
Definition
Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.
Also known as familial partial lipodystrophy type 1, FPLD1 — per MONDO