先天性多毛性皮肤色素异常伴隐性脊柱裂一例

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患儿男,14岁.后腰部褐青色皮肤色素异常随年龄增大14年.该患儿出生不久后腰部出现1.0 cm×l.5 cm大小褐青色斑片,随年龄增长逐渐增大,局部皮肤无明显痛痒等不适症状.生长发育及智力正常,自幼不能憋尿、经常尿床,自觉久站后双腿有胀痛感,足弓疼痛,10岁后症状逐渐减轻.生后有长期稀便史,不伴腹痛等不适症状,多次便常规检查均无异常,曾间断服用盐酸地芬诺酯缓解症状,至就诊时大便仍较正常略稀,平均2~3次/d,小便次数较多,夜尿1~2次,24h尿量正常.既往史:就诊前9年曾患过敏性紫癜,经服用中药治疗后痊愈.否认药物、食物过敏史.家族中无类似疾病患儿.体格检查:患儿智力、生长发育正常,各系统查体无明显异常.双弓足高,无足部畸形.皮肤科情况:平第2腰椎处皮肤可见1.8 cm ×2.0 cm褐青色斑块,稍隆起皮面,边界不清,颜色不均匀,表面无破溃,触之无囊性感,其上可见数根黑色毛发穿出.
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