Albright Steven B, Wolfswinkel Erik M, Caceres Kevin J, Weathers William M, Hollier Larry H
Division of Plastic Surgery, Michael E. Debakey Department of Surgery, Baylor College of Medicine, Houston, TX 77030, USA.
Hand Surg. 2013;18(2):267-72. doi: 10.1142/S0218810413720180.
Macrodystrophia lipomatosa is a rare, non-hereditary form of congenital local gigantism characterised by enlargement and hypertrophy of all mesenchymal tissue components with a disproportionate increase in adipose tissue. This form of macrodactyly has been reported in association with other anomalies including polydactyly, brachydactyly, syndactyly, and symphalangism. We describe a previously unreported case of bilateral upper extremity macrodystrophia lipomatosa with syndactyly in a 23-month-old boy. In this report, we emphasise the importance of establishing a diagnosis with imaging and review the described surgical approaches to treating this difficult condition.
巨脂性多指（趾）畸形是一种罕见的、非遗传性先天性局部巨大症，其特征是所有间充质组织成分均增大和肥大，脂肪组织不成比例增加。这种多指（趾）畸形形式已被报道与其他异常有关，包括多指（趾）、短指（趾）、并指（趾）和关节粘连。我们描述了一名23个月大男孩双侧上肢巨脂性多指（趾）畸形合并并指（趾）的此前未报道病例。在本报告中，我们强调通过影像学进行诊断的重要性，并回顾了针对这种疑难病症所描述的手术方法。
