中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (9): 650-652.doi: 10.12144/zgmfskin202609650

• 病例报告 • 上一篇    下一篇

头颅、肾脏受累的结节性硬化症一例

甘丽平1,盘金玲1,曹应琼2,邓信文1,杨万玲1,罗红叶1   

  1. 1 云南省文山壮族苗族自治州皮肤病防治所（文山州皮肤病专科医院）皮肤科，云南文山，663000；2 麻栗坡县皮肤病防治站（麻栗坡县皮肤病专科医院），云南文山，663600
  • 出版日期:2026-09-15 发布日期:2026-09-02

Tuberous sclerosis involving the head and kidneys: a case report

GAN Liping1, PAN Jinling1, CAO Yingqiong2, DENG Xinwen1, YANG Wanling1, LUO Hongye1   

  1. 1 Yunnan Province Wenshan Prefecture Dermatology Prevention and Treatment Institute (Wenshan Prefecture Dermatology Specialist Hospital), Wenshan 663000, China; 2 Malipo County Dermatosis Prevention and Treatment Station (Malipo County Dermatology Specialized Hospital), Wenshan 663600, China
  • Online:2026-09-15 Published:2026-09-02

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摘要： 结节性硬化症(tuberous sclerosis complex，TSC)是一种多系统受累的常染色体显性遗传性疾病，本文报道一例头颅、肾脏受累的TSC病例。患者，男，20岁，面部多发丘疹9年。皮肤科查体：双侧面颊部、鼻部、口周见散在或密集圆形丘疹，质硬、表面光滑；颈部、躯干、臀部见8处散在大小不等色素脱失斑；左侧肩部见稍隆起的10 cm×13 cm大小的淡褐色斑块。牙齿见点状凹陷。头颅CT示右侧小脑、双侧侧脑室体部旁、内囊结节状高密度影，腹部CT示双肾多发结节状、片状低密度影，错构瘤表现。诊断：结节性硬化症。面部10余粒红色丘疹予激光治疗1次后脱落，后续随访失访。

关键词: 结节性硬化症, 肾血管平滑肌脂肪瘤

Abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant hereditary disease involving multiple systems. We report a 20-year-old male patient with a 9-year history of multiple facial papules. Dermatological examination showed scattered or clustered round, firm and smooth-surfaced papules on both cheeks, nose and perioral area, eight scattered hypopigmented macules of different sizes on the neck, trunk and buttocks, a slightly elevated light brown plaque of 10 cm × 13 cm on the left shoulder, and pitted enamel defects on the teeth. Cranial CT revealed nodular high-density lesions in the right cerebellum, beside the bodies of bilateral lateral ventricles and the internal capsule, while abdominal CT presented multiple nodular and patchy low-density lesions in both kidneys suggestive of hamartomas. Diagnosis: Tuberous sclerosis. Over ten red papules on the face were treated with one laser session, after which they fell off,subsequent follow-up was lost.

Key words: tuberous selerosis complex, renal angiomyolipoma