表皮痣一家系报道并文献复习

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1、itffmacyoilthebuttockandperianalareas，therightuppermadlowerextremities，aswellassubmaxillaThelesionswerepnmtusallthetimeNoabnomalitywasdetectedongeneralphysicalandsystemicexamination&Laboratoryexaminationsincludingcompletebloodcount,rutineurineanalysis，serumelectrolytes,liver

2、andkidneyfunctiontestsweremlwithinnormalrangeHistologicalexaminationshowedhyperpemkeratosisandaeanthosisoftheepidermis,theupperdermisshowedamildperivascularlymphohistocytieinfiltratewithdilatedbloodvesselsHisnephew,a2-year-oldboy,bedsimilarclinicalandhistopethologicalfeature

3、sThethirde2deinthisfamily,wasthefirstpatient’smother,whohadalocalizedclusteredkeratoficpepniesincemearlyageFromherclinicalcharacteristicsandfamilyhistory,theprimarydiagno《swaslocalizedNENOverall，NENoccurrediIl5membersinthreegenerations(mother，uncle，cousins，nephew)ofafamilyth

4、athadnoconsangninoousmarriage．Inthiscomposition,we州ewedtheepidemiology,4些a：盔堂堡主堂壁鲨苎moleculepathogenesis，clinicalclassification,pathology,differentialdiagnosisandtreatmentKeywords：VCtTOCOUSnevus；hamartoma；keratinocyte；mosaicism；inflanmlatorylinearvcrrucousepidermallleVtlS坐垄盔兰

5、堡主兰生鲨皇一——符号说明英文略称英文全称中文仝称NENnon．organoidepidermalnevlls非器官样型表皮痣ILVENinflammatorylinearVCl3mCOUSepidermalnevus炎性线状表皮痣FGFRfibroblastgrowthfactorreceptor成纤维生长因子受体pIIOCAphusphoinosifide一3一kinase，catalytic，alpha类磷脂酰肌醇3激酶a催化亚单位HPVhumanpapilloma,diius人类乳头瘤病毒EVepidermodysplasiaverru

6、ciformis疣状表皮发育不良TCA廿ichlomaceticacid三氧醋酸PDTphotodynamictherapy光动力疗法山东大学硕士学位论文前言表皮痣是由皮肤或粘膜的上皮细胞局限性良性增生所形成的错{匐瘤，根据其主要组成成分是皮肤附属器还是角质细胞又分为器官样痣和非器官样型表皮痣。但狭义上表皮痣则专指非器官样型表皮痣。本病通常在出生时或幼儿期发病，作为一种先天性皮肤病，临床上并非罕见，研究资料显示表皮痣的发生率约为新生儿的1‰，男女的发病几率相等，且无种族差异。引前，国内外多见散发病例．罕见家族发病者。非器官样型表皮痣足一种先天性

7、嵌合性皮肤病，在胚胎发育早期体细胞发生非致死性究变，继续分裂井迁移至表皮．与正常表皮细胞交错镶嵌，形成嵌台性皮肤损害。因此表皮痣的皮肤损害大多沿Blaschko线(德国皮肤科医生AlfredBlaschko通过长期对一些痣类及呈线状分布皮肤病的观察，发现这些皮损有沿着体表呈线状分布的规律性．并于1901年提出了“痣样线”的概念，后被命名为Blaschko线)分布即是皮肤嵌合性舶体现。文献检索发现，成纤维生长因子受体3(FibrobIas!growt．bfactorreceptor3，FGFR3)和类磷脂酰肌醇一3一激酶。催化亚单位(Phosph

8、oinositidc-3-kinase，catalytic，alph4PIK3CA)两个基因的点突变与表皮痣的发生密切相关。非器官样型表皮痣按皮损的形