Lee Cheng-Hiang, Spence Roy A J, Upadhyaya Meena, Morrison Patrick J
Belfast HSC Trust, Belfast, UK.
BMJ Case Rep. 2011 Feb 17;2011:bcr1020103395. doi: 10.1136/bcr.10.2010.3395.
Familial multiple lipomatosis is rare. Several modes of inheritance have been proposed but no conclusive evidence shown, although some families have suggested autosomal dominant inheritance. The authors describe a family with multiple lipomatosis showing clear autosomal dominant inheritance, and no mutations within the NF1, SPRED1 or Cowden disease (PTEN) genes. Familial autosomal dominant lipomatosis is a rare but distinct entity.
家族性多发性脂肪瘤病较为罕见。虽然有人提出了几种遗传模式，但尚无确凿证据，尽管一些家族提示为常染色体显性遗传。作者描述了一个具有多发性脂肪瘤病且呈现明确常染色体显性遗传的家族，并且在NF1、SPRED1或考登病（PTEN）基因中未发现突变。家族性常染色体显性脂肪瘤病是一种罕见但独特的疾病。
