CAJ | 학술논문

分析我院2例儿童表皮痣综合征的临床表现、影像检查及皮肤组织病理学资料,并结合相关文献进行复习.2例均有典型的表皮痣、脑部影像学异常,且合并智力低下、癫痫、语言及运动发育迟缓,其中1例合并眼部肿瘤.皮损组织病理学检查示鳞状表皮乳头状增生.提示该病除皮肤损害外,常合并全身其他系统损害,尤其是神经系统,早期诊断及治疗可以帮助改善患者生活质量.
분석아원2례인동표피지종합정적림상표현、영상검사급피부조직병이학자료,병결합상관문헌진행복습.2례균유전형적표피지、뇌부영상학이상,차합병지력저하、전간、어언급운동발육지완,기중1례합병안부종류.피손조직병이학검사시린상표피유두상증생.제시해병제피부손해외,상합병전신기타계통손해,우기시신경계통,조기진단급치료가이방조개선환자생활질량.
Clinical, radiological and pathological presentations in two children with epidermal nevus syndrome were analyzed and relevant literature was reviewed.Two patients both had typical epidermal nevus and abnormal cerebral radiography, which was associated with mental retardation, epilepsy, language and movement retardation.One case was complicated with an ocular tumor.Pathological investigations of the epidermal nevus revealed papilliform proliferation in squamous epidermis.The disorder may have a systemic involvement besides cutaneous lesions, with a predilection for the central nervous system.Early diagnosis and therapy may help to improve patients life quality.