Beer-Sheva, Israel From the Division of Plastic and Reconstructive Surgery, the Newborn and Intermediate Care Unit, Division of Pediatrics, and the Division of Obstetrics and Gynecology, Soroka University Medical Center, Ben-Gurion University of the Negev.
Plast Reconstr Surg. 2014 Nov;134(5):766e-774e. doi: 10.1097/PRS.0000000000000638.
Aplasia cutis congenita is a rare, congenital disorder. In its severe phenotype, it is potentially life threatening. Its management and the timing of surgery remain controversial because of the risks involved with both conservative and surgical approaches. Most literature is based on case reports and very small case series because of the rarity of the disorder. The authors present their experience treating newborns with aplasia cutis congenita and its progressive development.
Using a hospital registry, the authors found all cases of newborns diagnosed with aplasia cutis congenita during the years 2000 to 2013. Clinical data were gathered from hospital and clinic records, and photographs were obtained by the plastic surgery team.
Twenty-two cases of aplasia cutis congenita were included in this study: 21 on the scalp and one on the foot heel. Eleven patients were male and 11 were female. Defect size ranged from 1 to 150 cm (average, 29 cm). Three patients died as a result of uncontrollable hemorrhage. Six patients underwent emergency coverage, one with allografts later replaced by split-thickness skin grafts and five by immediate split-thickness skin grafting. All of the patients who underwent immediate skin grafting survived and thrived.
The authors emphasize the role of emergency split-thickness skin grafting in the treatment of large aplasia cutis congenita or ones with large veins or sagittal sinus exposure. The authors also present a practical, treatment-oriented classification that could assist physicians in estimating the severity and therefore prognosis of the disease and offer a treatment guideline.
CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.
先天性皮肤发育不全是一种罕见的先天性疾病。在其严重的表型中，它可能具有生命威胁。由于保守和手术方法都存在风险，其管理和手术时机仍然存在争议。由于该疾病的罕见性，大多数文献都是基于病例报告和非常小的病例系列。作者介绍了他们治疗先天性皮肤发育不全新生儿及其进行性发展的经验。
作者使用医院登记册，发现了 2000 年至 2013 年期间所有被诊断为先天性皮肤发育不全的新生儿病例。临床数据来自医院和诊所记录，整形外科团队获取了照片。
本研究纳入了 22 例先天性皮肤发育不全病例：头皮 21 例，足跟 1 例。11 例为男性，11 例为女性。缺损大小从 1 至 150 厘米（平均 29 厘米）。3 例患者因无法控制的出血而死亡。6 例患者进行了紧急覆盖，1 例患者随后用同种异体移植物替换了部分厚度皮肤移植，5 例患者立即进行了部分厚度皮肤移植。所有立即进行皮肤移植的患者均存活并茁壮成长。
作者强调了紧急部分厚度皮肤移植在治疗大的先天性皮肤发育不全或有大静脉或矢状窦暴露的疾病中的作用。作者还提出了一种实用的、以治疗为导向的分类方法，可以帮助医生估计疾病的严重程度和预后，并提供治疗指南。
临床问题/证据水平：治疗，IV。
