1例Klippel-Trenaunay综合征合并神经纤维瘤病  

A case of Klippel-Trenaunay syndrome with neurofibromatosis

作　　者：高鹏[1] 白厚桥[1] 代丽美[1] 杨成林[1] GAO Peng;BAI Hou-qiao;DAI Li-mei(Department of Dermatology,Weihai Second Hospital Affiliated to Qingdao University Medical College,Weihai 264200,China)

机构地区：[1]青岛大学医学院附属威海市立第二医院,264200

出　　处：《中国实用医药》2023年第13期154-156,共3页China Practical Medicine

摘　　要：1例青年女性患者,16岁时发现左足部出现暗青色至暗褐色增生物,曾在“某军区医院”就诊,诊断为“Klippel-Trenaunay综合征”,给予“硬化治疗”,未见明显好转。2022年2月8日至本院皮肤科就诊。查体:心肺腹未见明显异常。专科情况:躯干有大小不等的暗褐色斑,部分呈类圆形,背部、腰部可见豆粒大小的肤色至淡红色丘疹,表面光滑。左小腿较右小腿粗。左足可见约10 cm×7 cm的暗青色至暗褐色肿物,左拇趾可见弯曲畸形。诊断为:(1) Klippel-Trenaunay综合征;(2) 1型神经纤维瘤病(NF1)。Klippel-Trenaunay综合征又称血管扩张肥大及血管骨肥大综合征,它是先天性血管畸形,由三部分构成:(1)毛细血管畸形(葡萄酒样痣);(2)静脉畸形(即广泛分布、早发性静脉曲张);(3)受累组织[软组织和(或)骨]肥大。典型神经纤维瘤病、周围性神经纤维瘤病表现为神经系统、骨骼和皮肤的发育异常。A 16-year-old young female patient with dark cyan to dark brown hyperplasia of the left foot was diagnosed as Klippel-Trenaunay syndrome in a military hospital,and given "sclerotherapy",but no significant improvement was observed.She went to our department of dermatology on February 8,2022.Physical examination:no significant abnormalities were seen in the heart,lungs and abdomen.Specialty situation:the body scattered in the size of dark brown spots,part of the quasi-round,back,waist can be seen bean-size skin color to light red papules,smooth surface.The left calf is thicker than the right calf.A dark cyan to dark brown mass of about 10 cm×7 cm can be seen on the left foot,and a curved deformity of the left hallux.Diagnosis:a.Klippel-Trenaunay syndrome;b.neurofibromatosis 1(NF1).Klippel-Trenaunay syndrome,also known as vasodilated hypertrophy and vascular osteohypertrophy syndrome,is a congenital vascular malformation consisting of three parts:a.capillary malformation(wine-like nevus);b.venous malformation(that is,widely distributed,early-onset varices);c.hypertrophy of the affected tissue [soft tissue and/(or) bone].Typical neurofibromatosis and peripheral neurofibromatosis present with developmental abnormalities of the nervous system,bones,and skin.

关 键 词：KLIPPEL-TRENAUNAY综合征 神经纤维瘤病 

分 类 号：R543[医药卫生—心血管疾病] R739.4[医药卫生—内科学]