Vissers Wynand, Van Steensel Maurice, Steijlen Peter, Renier Willy, Van De Kerkhof Peter, Van Der Vleuten Carine
Department of Dermatology University Medical Centre Radboud, PO Box 9101, NL-6500 HB Nijmegen, The Netherlands.
Eur J Dermatol. 2003 May-Jun;13(3):238-41.
We describe a patient with a complex neurocutaneous syndrome of congenital vascular malformations, abnormalities of brain and bones, and soft tissue hypertrophy of one leg. According to eponymous classification schemes, the patient can be assigned to two different clinical entities. Using the lethal gene theory it is possible to unify these different syndromes and to explain the overlap and diversity of these congenital vascular syndromes. We argue that it is better to describe such vascular malformation syndromes in anatomical/histological or functional terms and map the extent of the disease, rather than name it according to the eponymous classification.
我们描述了一名患有先天性血管畸形、脑与骨骼异常以及单侧腿部软组织肥大的复杂神经皮肤综合征患者。根据以人名命名的分类方案,该患者可被归为两种不同的临床病症。运用致死基因理论,有可能将这些不同的综合征统一起来,并解释这些先天性血管综合征的重叠与多样性。我们认为,相较于根据以人名命名的分类来命名,以解剖学/组织学或功能术语描述此类血管畸形综合征并明确疾病范围会更好。