Familial partial lipodystrophies E88.1

Congenital or acquired, circumscribed fatty tissue atrophy with accompanying symptoms such as acanthosis nigricans, hirsutism, acromegal aspect. So far the following genotypically and phenotypically different clinical pictures have been described and accepted as entities:

• Lipodystrophy, familial, type Koebberling-Dunnigan (type 1)

• Lipodystrophy, familial, type Dunnigan (type 2; OMIM 151600)

• Lipodystrophy, familial, type Barroso (type 3; OMIM 604367)

Type Dunnigan and Köbberling differ fundamentally from progressive partial lipodystrophy by an autosomal-dominant inheritance as well as by leaving the face free. Type Dunnigan manifests itself on the trunk and extremities, type Köbberling only on the extremities. In type Barroso, lipodystrophy is more discrete than in type 2 and affects only the arms, legs and face.

No causal therapy known. If necessary, plastic surgery measures; symptomatic treatment of the associated underlying diseases)

1. Dunnigan MG, Cochrane MA, Kelly A, Scott JW (1974) Familial lipoatrophic diabetes with dominant transmission. A new syndrome. Q J Med 43: 33-48
2. Kobberling J, Willms B, Kattermann R, Creutzfeldt W (1975) Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes. Human genetics 29: 111-120
3. Koebberling J et al (1986) Familial partial lipodystrophy: two types of an mal linked dominant syndrome, lethal in the hemizygous state. J Med gene 23: 120-127
4. Owen KR et al (2004) Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome). Nephron Clin Pract 96: 35-38