Lipodystrophy (kobberling-dunnigan syndrome)

General: Disturbance of the fat metabolism; autosomal dominant; 636b12g affects females predominantly; occurs at puberty.

Ocular: Enophthalmos; lack of lid apposition; choroidal atrophy; optic disk pallor; corneal opacity.

Clinical: Progressive symmetrical loss of subcutaneous fat in upper part of body, including face and orbits; fat accumulation of neck, shoulders, buffalo hump, and genitalia; hyperthyroidism; lipoatrophic diabetes; hepatosplenomegaly; acanthosis nigricans; hyperlipemia; lean muscular limbs; phlebectasia; insulin resistance; hyperglycemia; type IV lipoproteinemia.

Dunnigan MG, et al. Familial lipoatrophic diabetes with dominant transmission: a new syndrome. Q J Med 33-48.

Kobberling J, et al. Lipodystrophy of the extremities: a dominantly inherited syndrome associated with lipoatrophic diabetes. Humangenetik 1975; 29:111-l20.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.