CAJ | 학술논문

目的：探讨幼儿着色性干皮病(XP)伴角化棘皮瘤的临床表现、组织病理学特征、诊断、治疗及鉴别诊断。方法以2013年6月6日在济南军区总医院确诊的1例幼儿 XP 伴角化棘皮瘤患儿为研究对象(本研究遵循的程序符合济南军区总医院人体试验委员会制定的伦理学标准,得到该委员会批准,并征得受试对象监护人的知情同意,并与之签署临床研究知情同意书)。对其罹患的 XP 伴角化棘皮瘤进行组织病理学检查,并结合相关文献总结该病的临床表现、组织病理学特征、诊断和治疗方法等。结果本例患儿为生后18个月龄,男性,临床表现为面部可见大小不等、形状不规则的褐色色素沉着斑及色素脱失斑,左眼下眼睑下方可见半球形肿物,大小约为3 cm×3 cm,表面尚光滑,伴褐色斑片,边界清楚,质韧。术后切除皮损组织送组织病理学检查结果示,表皮角化过度,真皮浅层慢性炎性细胞浸润,基底层黑色素细胞不规则增多,黑色素增加。左眼下眼睑下方切除肿物于镜下呈火山口状,其内充满角化物,2侧边缘表皮增生呈唇状向中央包绕,底部表皮呈假上皮瘤样增生,形成不规则的上皮团块及角化物,肿物边界清晰,周围间质内炎性细胞浸润明显。经过手术及药物治疗后,电话随访8个月示患儿恢复良好。结论幼儿 XP 伴角化棘皮瘤十分罕见。采用避光+抗氧化药物+肿瘤切除综合治疗可取得较满意的疗效。
목적：탐토유인착색성간피병(XP)반각화극피류적림상표현、조직병이학특정、진단、치료급감별진단。방법이2013년6월6일재제남군구총의원학진적1례유인 XP 반각화극피류환인위연구대상(본연구준순적정서부합제남군구총의원인체시험위원회제정적윤리학표준,득도해위원회비준,병정득수시대상감호인적지정동의,병여지첨서림상연구지정동의서)。대기리환적 XP 반각화극피류진행조직병이학검사,병결합상관문헌총결해병적림상표현、조직병이학특정、진단화치료방법등。결과본례환인위생후18개월령,남성,림상표현위면부가견대소불등、형상불규칙적갈색색소침착반급색소탈실반,좌안하안검하방가견반구형종물,대소약위3 cm×3 cm,표면상광활,반갈색반편,변계청초,질인。술후절제피손조직송조직병이학검사결과시,표피각화과도,진피천층만성염성세포침윤,기저층흑색소세포불규칙증다,흑색소증가。좌안하안검하방절제종물우경하정화산구상,기내충만각화물,2측변연표피증생정진상향중앙포요,저부표피정가상피류양증생,형성불규칙적상피단괴급각화물,종물변계청석,주위간질내염성세포침윤명현。경과수술급약물치료후,전화수방8개월시환인회복량호。결론유인 XP 반각화극피류십분한견。채용피광+항양화약물+종류절제종합치료가취득교만의적료효。
Objective To investigate the clinicopathological characteristics,diagnosis,differential diagnosis and treatment of xeroderma pigmentosum(XP)associated with keratoacanthoma.Methods One case of child (boy,18-month old)with XP associated with keratoacanthoma in Jinan Military General Hospital was reported.The study protocol was approved by the Ethical Review Board of Investigation in Jinan Military General Hospital.Informed consent was obtained from parents of this child.The clinical manifestations,histological features,treatment and prognosis of the disease were analyzed and summarized. Results A 1 8-month old boy was admitted with unequal size,irregularly shaped brown spots,patches and depigmentation spots.A well-circumscribed hemispherical mass measuring 3 cm × 3 cm was found with smooth surface and brown patches beneath the left lower eyelid.The microscopical features of skin lesion revealed epidermal hyperkeratosis,chronic inflammatory infiltration in the superficial dermal,and increases of melanocyte and melanin in basal layer.The scanning magnification of the mass beneath the left lower eyelid showed a cup-shaped,squamous proliferation with a central keratin plug.The squamous epithelium was acanthotic with hypergranulosis.The adjacent epidermis formed exophytic projections resulting in a silhouette that has been likened to lips.There was an associated inflammatory reaction within the stroma surrounding the mass.A eight-month follow-up showed a good prognosis.Conclusions XP of infancy is a rare disease,and it is more rare which associated with keratoacanthoma.Combined therapy of antioxidant drugs away from light and excision of the mass remain the treatment of choice.