以色素脱失斑为首发表现的婴幼儿结节性硬化症12例分析

摘要/Abstract

摘要： 目的探讨无神经系统症状的婴幼儿结节性硬化症的临床特点。方法分析12例婴幼儿期结节性硬化症患儿的临床表现，同时对其中5例进行反射式共聚焦显微镜检查，2例进行皮肤活检组织病理检查及电镜检查。结果 12例患儿就诊年龄2 ~ 18个月，中位数8.6个月。在出现神经症状前，多表现为色素脱失斑、侧脑室室管膜下结节/脑室壁结节、心脏横纹肌瘤和肾脏多发囊肿。5例行反射式共聚焦显微镜检查，结果均表现为色素环结构完整，无缺失，折光变暗，边缘不清晰。组织病理检查：基底细胞色素颗粒及黑素细胞局灶减少；电镜检查：基底层黑素细胞胞质中可见正常数量黑素颗粒。结论婴幼儿期的结节性硬化在出现神经症状前，主要表现为色素脱失斑，临床上易与白癜风相混淆，反射式共聚焦显微镜检查结果可以作为与色素减退类疾病相鉴别的依据之一。

关键词: 显微镜检查, 共焦

Abstract: Xiao Yuanyuan, Xing Huan, Xu Jiaosheng, Ma Lin Department of Dermatology, Beijing Children′s Hospital, Capital Medical University, Beijing 100045, China Corresponding author: Xing Huan, Email: xinghuan63@aliyun.com 【Abstract】 Objective To investigate clinical characteristics of tuberous sclerosis （TSC） without nervous system abnormalities in infants. Methods Clinical manifestations of 12 infants with TSC were analyzed. Reflectance confocal microscopy （RCM） was performed in 5 of the 12 infants. Two patients underwent histopathological examination and electron microscopic examination. Results The age at first clinic visit for TSC ranged from 2 to 18 months （median, 8.6 months） among these patients. Before occurrence of nervous symptom, TSC mainly manifested as hypomelanotic macules, nodules in the subependymal layer or walls of lateral ventricles of the brain, cardiac rhabdomyoma and multiple renal cysts. RCM revealed intact dermal papillary rings with low reflectivity and obscure boundaries in 5 infants. Histopathological examination showed a local decrease in melanocytes and pigment granules in basal cells. Electron microscopic examination showed a normal number of melanin granules in the cytoplasm of melanocytes in the basal layer. Conclusions Before appearance of nervous system abnormalities, TSC mainly manifests as hypomelanotic macules in infants, and is easily confused with vitiligo in clinic. RCM examination may serve as a useful method to distinguish infant TSC from hypopigmented diseases.

肖媛媛邢嬛徐教生马琳. 以色素脱失斑为首发表现的婴幼儿结节性硬化症12例分析[J]. 中华皮肤科杂志, 2016, 49(3): 187-191.doi:

参考文献 17

［1］	Northrup H, Krueger DA, International tuberous sclerosis complex consensus group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference［J］. Pediatr Neurol, 2013, 49（4）: 243⁃254. DOI: 10.1016/j.pediatrneurol.2013.08.001.
［2］	Morse RP. Tuberous sclerosis［J］. Arch Neurol, 1998, 55（9）: 1257⁃1258.
［3］	Jozwiak S, Schwartz RA, Janniger CK, et al. Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance［J］. Int J Dermatol, 1998, 37（12）: 911⁃917.
［4］	孙新芬, 严淑贤, 陈连军, 等. 结节性硬化症98例临床表现对诊断的意义［J］. 中国皮肤性病学杂志, 2009, 23（5）: 285⁃287.
	Sun XF, Yan SX, Chen LJ, et al. Diagnostic significance of clinical manifestations in 98 patients with tuberous sclerosis［J］. Chin J Derm Venereol, 2009, 23（5）: 285⁃287.
［5］	孟如松, 赵广, 蔡瑞康, 等. 偏振光皮肤镜在白癜风早期诊断及与其他色素减退斑鉴别中的应用［J］. 中华皮肤科杂志, 2009, 42（12）: 810⁃813. DOI: 10.3760/cma.j.issn.0412⁃4030.2009.12.003.
	Meng RS, Zhao G, Cai RK, et al. Application of polarized light dermoescopy in the early diagnosis of vitiligo and its differential diagnosis from other depigmented diseases［J］. Chin J Dermatol, 2009, 42（12）: 810⁃813. DOI: 10.3760/cma.j.issn.0412⁃4030.2009. 12.003.
［6］	赖来桂, 许爱娥. 几种色素减退性皮肤病的共聚焦激光扫描显微镜图像特点［J］.中华皮肤科杂志, 2011, 44（4）: 273⁃275. DOI: 10.3760/cma.j.issn.0412⁃4030.2011.04.015
	Lai LG, Xu AE. In vivo confocal laser scanning microscopic features of several hypopigmented diseases［J］. Chin J Dermatol, 2011, 44（4）: 273⁃275. DOI: 10.3760/cma.j.issn.0412⁃4030.2011. 04.015.
［7］	徐梓榕, 冯阳宁, 谢雷, 等. 结节性硬化的MRI诊断［J］. 放射学实践, 2006, 21（2）: 130⁃132. DOI: 10.3969/j.issn.1000⁃0313.2006. 02.007.
	Xu ZR, Feng YN, Xie L, et al. MRI Diagnosis of tuberous sclerosis ［J］. Radiologic Practice, 2006, 21（2）: 130⁃132. DOI: 10.3969/j.issn.1000⁃0313.2006.02.007.
［8］	郑淋, 金兰中, 王芳韵, 等.小儿心脏横纹肌瘤的超声心动图诊断及分析其与结节性硬化症的关系［J］. 中国超声医学杂志,2012, 28（9）: 817⁃819. DOI: 10.3969/j.issn.1002⁃0101.2012.09.018.
	Zheng L, Jin LZ, Wang FY, et al. Pediatric cardiac rhabdomyoma and its relation with tuberous sclerosis［J］. Chin J Ultras Med, 2012, 28（9）: 817⁃819. DOI: 10.3969/j.issn.1002⁃0101.2012.09.018.
［9］	孙新芬, 王涌, 骆肖群, 等.腹部超声检查在诊断结节性硬化症中的应用价值［J］. 中国临床医学, 2010, 17（5）: 745⁃747. DOI: 10.3969/j.issn.1008⁃6358.2010.05.047.
	Sun XF, Wang Y, Luo XQ, et al. Diagnostic value of abdominal ultrasound screening in patients with tuberous sclerosis［J］. Chin J Clin Med, 2010, 17（5）: 745⁃747. DOI: 10.3969/j.issn.1008⁃6358.2010.05.047.
［10］	严昉, 项蕾红, 李颖, 等. 无色素痣的临床、组织学和超微结构观察［J］. 中华皮肤科杂志, 2010, 43（8）: 549⁃554. DOI: 10.3760/cma.j.issn.0412⁃4030.2010.08.010.
	Yan F, Xiang LH, Li Y, et al. Clinical, histopathologic and ultrastructural characteristics of achromic naevus［J］. Chin J Dermatol, 2010, 43（8）: 549⁃554. DOI: 10.3760/cma.j.issn.0412⁃4030.2010.08.010.
［11］	王莹, 管志伟, 林杨杨, 等.皮肤共聚焦激光扫描显微镜在儿童色素减退性疾病诊断中的应用［J］. 中华皮肤科杂志, 2015, 48（7）: 496⁃499. DOI: 10.3760/cma.j.issn.0412⁃4030.2015.07.014.
	Wang Y, Guan ZW, Lin YY, et al. Application of confocal laser scanning microscopy in the diagnosis of hypopigmentation disorders in children［J］. Chin J Dermatol, 2015, 48（7）: 496⁃499. DOI: 10. 3760/cma.j.issn.0412⁃4030.2015.07.014.
［12］	许德清. 结节性硬化病的诊治新进展［J］. 皮肤性病诊疗学杂志, 2014, 21（6）: 435⁃436. DOI: 10.3969/j.issn.1674⁃8468.2014. 06.002.
	Xu DQ. New advances in diagnosis and treatment of tuberous sclerosis complex［J］. J Diagn Ther Dermato⁃venereol, 2014, 21（6）: 435⁃436. DOI: 10.3969/j.issn.1674⁃8468.2014.06.002.
［13］	Failla P, Romano C, Schepis C. Hypomelanosis of Ito: asyndrome requiring a multisystem approach［J］. Australas J Dermatol, 1997, 38（2）: 65⁃70.
［14］	Jacks SK, Witman PM. Tuberous sclerosis complex an update for dermatologists［J］. Pediatr Dermatol, 2015, 32（5）: 563⁃570. DOI: 10.1111/pde.12567.
［15］	Verheyden CN. Treatment of the facial angiofibromas of tuberous sclerosis［J］. Plast Reconstr Surg, 1996, 98（5）: 777⁃783.
［16］	Papadavid E, Markey A, Bellaney G, et al. Carbon dioxide and pulsed dye laser treatment of angiofibromas in 29 patients with tuberous sclerosis［J］. Br J Dermatol, 2002, 147（2）: 337⁃342.
［17］	Dill PE, De Bernardis G, Weber P, et al. Topical everolimus for facial angiofibromas in the tuberous sclerosis complex:a first case report［J］. Pediatr Neurol, 2014, 51（1）: 109⁃113. DOI: 10.1016/j.pediatrneurol.2014.02.016.

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