先天性皮肤发育不全:国内258例报道临床分析

Aplasia cutis congenita:clinical analysis of 258 cases reported in China

目的总结我国先天性皮肤发育不全(aplasia cutis congenita,ACC)病例的临床特点。方法对我国近40年以来所有公开发表的ACC病例文献资料进行总结,文献来源于中国知网、万方医学网和维普数据库。结果统计病例258例,男144例,女95例,19例性别不详;有家族史15例,孕期有并发症或合并症16例,孕期服药及接触有害物质17例;发生于头皮39例(15.1%)、躯干8例(3.1%)、肢体107例(41.5%)、多部位皮肤缺损104例(40.3%)。单纯皮肤缺损89例(38.4%),合并其他组织发育异常或缺陷者169例(61.6%)。药物保守治疗235例(91.1%),15例伴有硬脑膜缺损、颅骨缺损或缺损面积>10%者进行植皮等手术治疗。放弃治疗8例。随访病例248例,其中233例(93.95%)在1周至4个月愈合;瘢痕挛缩3例,关节挛缩4例;死亡8例(3.2%),死因为出血或感染。结论ACC是一种可累及皮肤、骨质和身体多部位的皮肤发育缺陷,常合并其他组织发育异常。创面小及表浅者可行保守治疗,伴骨质缺损、大面积皮肤缺损等宜采用手术治疗。及时适当处理大多预后良好。

Objective To summarize the pathogenesis, diagnosis and treatment of aplasia cutis congenita (ACC) in China. Methods We reviewed and summarized all published ACC cases in China in the past four decades from China National Knowledge Internet(CNKI), Wan-Fang Medical Database and VIP database. Results Totally, 258 cases were included, consisting of 144 males, 95 females and 19 of unknown gender. Fifteen cases reported family history, 16 had maternal morbidity during pregnancy, 17 exposed to maternal medication or toxic material. Skin lesions of ACC occurred on the scalp (39 cases, 15.1%), trunk (8 cases, 3.1%) or limbs (107 cases, 41.5%) and sometimes were manifested as multiples skin defects (104 cases, 40.3%). Eighty-nine cases (38.4%) were presented with isolated skin defect, and 169 (61.6%) were complicated by other abnormalities or congenital defects. Totally, 235(91.1%) cases were treated conservatively, 15 cases with dural defect, skull defect or defect area > 10% underwent dermatoplasty, and the other eight cases refused any treatment. Among the 248 cases being followed up, 233 (93.95%) healed after treatment for one week to four months, three had scar contracture, four developed joint contracture, and eight (3.2%) died of hemorrhage or infection. Conclusions ACC is a congenital skin defect which might involve skin, bone and multiple parts of the body, often complicated with other abnormalities. Superficial and small skin defect maybe managed conservatively, while for patients with bone exposure or defect, large area skin defect, surgical management is recommended. Appropriate management can ensure good outcomes in most cases.