Paediatric Surgery Unit, Salesi Children's Hospital, Ancona, Italy.
Paediatric Surgery Unit, Salesi Children's Hospital, Ancona, Italy.
J Vasc Surg Venous Lymphat Disord. 2018 Mar;6(2):230-236. doi: 10.1016/j.jvsv.2017.09.011. Epub 2017 Dec 8.
Klippel-Trénaunay syndrome (KTS) is described in the literature as a complex syndrome characterized by various combinations of capillary, venous, and lymphatic malformations associated with limb overgrowth. In the first description by Maurice Klippel and Paul Trénaunay, tridimensional bone hypertrophy was believed to be the cause of limb enlargement. The purpose of this study was primarily to assess the presence of real bone hypertrophy as a cause of enlargement of the limb and to underline the rare presence of undergrowth of the affected limb in patients with KTS.
A two-center retrospective review including 17 KTS patients with various combinations of capillary, venous, and lymphatic malformation affecting the lower limb was performed. Differences in limb dimension were evaluated clinically. Width and length discrepancy of the affected limb was measured with radiologic imaging.
We found an increase of length in the affected limb in 80% of the patients. The leg length discrepancy varied from 0.2 to 2.6 cm. The median leg length discrepancy was found to be 1.4 cm. Three patients had a reduced length of the affected limb. Girth enlargement of the affected extremity was noticed in 60% of the patients, and 2 of 17 patients had hypotrophy of the involved limb. Hypertrophy (an increase in both length and width) of the bone was found in none of our cases, and the circumferential enlargement of the affected extremity was related only to soft tissue enlargement.
In the literature, KTS is considered the prototype of overgrowth syndromes associated with complex vascular malformations. The majority of our patients showed limb length increase associated with soft tissue enlargement without an increase of bone width; there were also two patients with limb undergrowth. A real bone overgrowth (an increase in both length and width) was not present in our patients. Therefore, we could consider the absence of real bone hypertrophy as probably a new aspect of such confusing and controversial definitions of KTS. In addition, it would be more accurate to classify KTS patients on the basis of their phenotypic features (type of vascular malformation, types of overgrown tissue) rather than by use of an outdated eponym.
Klippel-Trénaunay 综合征（KTS）在文献中被描述为一种复杂的综合征，其特征为各种毛细血管、静脉和淋巴管畸形与肢体过度生长相关联。在 Maurice Klippel 和 Paul Trénaunay 的首次描述中，三维骨肥大被认为是肢体增大的原因。本研究的主要目的是评估真正的骨肥大是否是肢体增大的原因，并强调 KTS 患者中受累肢体生长不足的罕见性。
对 17 例患有各种毛细血管、静脉和淋巴管畸形的 KTS 患者进行了两中心回顾性研究，这些畸形影响下肢。临床评估肢体尺寸差异。影像学测量受累肢体的宽度和长度差异。
我们发现 80%的患者患侧肢体长度增加。肢体长度差异从 0.2 至 2.6cm 不等。中位肢体长度差异为 1.4cm。3 例患者患侧肢体长度缩短。60%的患者患侧肢体周长增大，17 例患者中有 2 例受累肢体萎缩。我们的病例均未发现骨肥大（长度和宽度均增加），受累肢体的周长增大仅与软组织增大有关。
在文献中，KTS 被认为是与复杂血管畸形相关的过度生长综合征的原型。我们的大多数患者表现为肢体长度增加，伴有软组织增大，而骨宽度没有增加；还有两名患者患侧肢体生长不足。我们的患者中没有真正的骨过度生长（长度和宽度均增加）。因此，我们可以认为缺乏真正的骨肥大可能是 KTS 如此混淆和有争议的定义的一个新方面。此外，根据患者的表型特征（血管畸形类型、过度生长组织类型）而不是使用过时的命名法对 KTS 患者进行分类将更为准确。
