Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes
- 1 January 1975
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 29 (2), 111-120
- https://doi.org/10.1007/bf00430347
Abstract
A female patient with the following symptoms has been observed: complete absence of subcutaneous fat on the arms and legs, well developed adipose tissue on the trunk and face, severe hyperlipidemia, eruptive xanthomas, insulin resistant diabetes mellitus with lack of ketoacidosis, hepatomegaly and elevated basal metabolic rate. The patient thus exhibited all characteristics of lipatrophic diabetes (Lawrence type of diabetes). The mother and a sister of the patient were found to have the same peculiar appearence and a slight hyperlipidemia but no diabetes mellitus. The combination of this type of partial lipodystrophy with severe hyperlipidemia, insulin resistant diabetes mellitus without ketoacidosis and elevated basal metabolic rate was further observed in 2 unrelated patients without known familial occurrence. Thus partial lipodystrophy of the extremities is another, previously undescribed, syndrome associated with the Lawrence type of diabetes mellitus. In the 1 family the syndrome of lipodystrophy and hyperlipidemia is dominantly inherited. Besides the autosomal recessively inherited syndrome of congenital generalized lipodystrophy there is a heterogenous group of dominantly inherited syndromes with various types of lipodystrophy.Keywords
This publication has 35 references indexed in Scilit:
- PARTIAL LIPODYSTROPHY AND CHRONIC HYPOCOMPLEMENTEMIC GLOMERULONEPHRITISActa Medica Scandinavica, 1974
- MESANGIOCAPILLARY NEPHRITIS, PARTIAL LIPODYSTROPHY, AND HYPOCOMPLEMENTÆMIAThe Lancet, 1973
- Congenital lipodystrophic diabetes with acanthosis nigricans. The Seip-Lawrence syndromeArchives of Dermatology, 1965
- Acanthosis nigricans and congenital total lipodystrophy. Associated anomalies observed in two siblingsArchives of Dermatology, 1965
- EditorialCirculation, 1965
- TWO SIBLING CASES WITH LIPOATROPHIC DIABETESEndocrinologia Japonica, 1965
- Generalized lipoatrophy, hepatic cirrhosis, disturbed carbohydrate metabolism and accelerated growth (lipoatrophic diabetes)American Journal Of Medicine, 1960
- Lipodystrophia Progressiva and Temporary HydronephrosisBMJ, 1955
- PATHOGENESIS OF PROGRESSIVE CEPHALOTHORACIC LIPODYSTROPHY (Barraquerʼs Disease)Journal of Nervous & Mental Disease, 1949
- LIPODYSTROPHY AND HEPATOMEGALY WITH DIABETES, LIPÆMIA, AND OTHER METABOLIC DISTURBANCES: A CASE THROWING NEW LIGHT ON THE ACTION OF INSULINThe Lancet, 1946