Fagan Linda-Lynn, Harris Philip A, Coran Arnold G, Cywes Robert
Department of Pediatric Surgery, Vanderbilt University Medical Center, Nashville, TN, USA.
Pediatr Surg Int. 2002 Sep;18(5-6):545-7. doi: 10.1007/s00383-002-0812-5. Epub 2002 May 8.
Aplasia cutis congenita (ACC) is a rare group of disorders characterized by the focal absence of skin at birth. The majority of cases affect the scalp, but involvement of the trunk and extremities has been described. Proposed etiologies for ACC include infection, vascular malformations, amniogenesis, and teratogens, but no unifying theory has been identified. We present the case of a 1-day-old female with large, bilateral posterolateral trunk skin defects noted at birth. The prenatal history was significant for maternal diabetes, fetal papyraceus at 12 weeks' gestation, and a family history of limb defects. The infant was treated non-surgically with local wound care and antibiotics, as well as frequent dressing changes. The areas of absent skin developed a granulation-tissue layer followed by re-epithelialization and mild wound contracture. With early identification of the etiology of the lesions and appropriate investigation and treatment, including conservative wound management, aplastic lesions can heal successfully without affecting growth, but may require cosmetic repair at a later stage.
先天性皮肤发育不全（ACC）是一组罕见的疾病，其特征为出生时局部皮肤缺失。大多数病例累及头皮，但也有躯干和四肢受累的报道。ACC的病因包括感染、血管畸形、羊膜形成异常和致畸物，但尚未确定统一的理论。我们报告一例1日龄女性病例，出生时即发现双侧后外侧躯干有大面积皮肤缺损。产前病史显示母亲患有糖尿病、孕12周时出现纸样胎儿，并有肢体缺陷家族史。该婴儿接受了非手术治疗，包括局部伤口护理、使用抗生素以及频繁更换敷料。皮肤缺失区域形成了肉芽组织层，随后重新上皮化并出现轻度伤口挛缩。通过早期确定病变病因并进行适当的检查和治疗，包括保守的伤口处理，发育不全性病变可成功愈合而不影响生长，但后期可能需要进行美容修复。
