Department of Pediatrics, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui Province, China.
J Chin Med Assoc. 2013 Apr;76(4):229-31. doi: 10.1016/j.jcma.2012.12.004. Epub 2013 Feb 15.
Klippel-Trenaunay syndrome (KTS) is a rare and sporadic disorder characterized by the triad of capillary malformations, venous varicosities, and limb hypertrophy. The clinical manifestations of KTS are heterogeneous. In this report, we present a unique case of KTS in combination with congenital dislocation of the hip (CDH) in a 4-day-old female neonate. The patient had a widespread port-wine stain surrounded by regions of unaffected skin in a mosaic pattern, cutaneous hemangioma on the upper lip, left-sided hemihypertrophy involving the entire body, and also evidence of left CDH (based on the results of a physical examination and radiographic interpretation). We present this case for the rarity of presentation, discuss the relationship between KTS and CDH, and the treatment options available with a brief review of the literature.
克莱彭-特伦纳扬综合征(Klippel-Trenaunay syndrome,KTS)是一种罕见的散发性疾病,其特征为毛细血管畸形、静脉瘤和肢体肥大三联征。KTS 的临床表现具有异质性。本报告介绍了一例 4 天大的女性新生儿合并先天性髋关节脱位(congenital dislocation of the hip,CDH)的 KTS 独特病例。患者表现为广泛的葡萄酒色斑,周围为镶嵌模式的正常皮肤,上唇皮肤血管瘤,左侧整个身体肥大,同时也存在左侧 CDH 的证据(基于体格检查和影像学解释的结果)。我们提出该病例的罕见表现,讨论了 KTS 和 CDH 之间的关系,以及现有治疗方案,并简要复习了文献。