Köbberling J, Willms B, Kattermann R, Creutzfeldt W
Humangenetik. 1975 Sep 10;29(2):111-20. doi: 10.1007/BF00430347.
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 appearance 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.
手臂和腿部完全没有皮下脂肪，躯干和面部的脂肪组织发育良好，严重高脂血症，发疹性黄瘤，胰岛素抵抗型糖尿病且无酮症酸中毒，肝肿大以及基础代谢率升高。该患者表现出脂肪萎缩性糖尿病（劳伦斯型糖尿病）的所有特征。发现该患者的母亲和一个姐妹有相同的特殊外貌以及轻微高脂血症，但无糖尿病。在另外2名无已知家族病史的无关患者中，进一步观察到这种类型的部分脂肪营养不良与严重高脂血症、无酮症酸中毒的胰岛素抵抗型糖尿病以及基础代谢率升高的组合。因此，肢体部分脂肪营养不良是另一种先前未描述的与劳伦斯型糖尿病相关的综合征。在这个家族中，脂肪营养不良和高脂血症综合征是显性遗传的。除了常染色体隐性遗传的先天性全身性脂肪营养不良综合征外，还有一组异质性的显性遗传综合征，伴有各种类型的脂肪营养不良。
