Thadchanamoorthy V, Dayasiri Kavinda, Thirukumar M, Thamilvannan N, Chandraratne S H
Faculty of Health Care Sciences, Eastern University, Chenkalady, Sri Lanka.
Consultant Pediatrician, Base Hospital, Mahaoya, Sri Lanka.
J Med Case Rep. 2021 Mar 4;15(1):110. doi: 10.1186/s13256-021-02662-3.
Aplasia cutis congenita is regarded as congenital focal absence of skin in the newborn, and occurrence of more than three similar skin defects is rare. The etiology is thought to be multifactorial, and precise etiopathogenesis is unknown.
A 13-day-old newborn Sri Lankan Tamil girl was referred to the dermatologic clinic with multiple skin defects at birth. There were six lesions on the body, and two of them had healed during intrauterine period, leaving scars. This was a second twin of her pregnancy. Her first twin fetus had demised before 19 weeks of pregnancy and was confirmed to be fetus papyraceous based on ultrasound-guided fetal assessment. The said child was thoroughly investigated and found to have no other congenital abnormalities. Chromosomal studies yielded normal findings. She was treated with tropical antibacterial ointment, and all lesions resolved spontaneously within 4 weeks, leaving scars. Physiotherapy was commenced to prevent contracture formation, and follow-up was arranged in collaboration with the plastic surgical team.
Aplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. This report described a newborn with type V cutis aplasia congenita in whom the diagnosis was confirmed based on clinical features and revision of antenatal history. The management depends on the pattern, extent, location, severity, underlying causes, and associated anomalies.
先天性皮肤发育不全被认为是新生儿先天性局限性皮肤缺失,而出现三个以上类似皮肤缺损的情况罕见。其病因被认为是多因素的,确切的发病机制尚不清楚。
一名13天大的斯里兰卡泰米尔族新生儿女孩因出生时存在多处皮肤缺损被转诊至皮肤科诊所。身上有六个皮损,其中两个在宫内已愈合,留有瘢痕。这是她此次妊娠的第二个双胞胎胎儿。她的第一个双胞胎胎儿在妊娠19周前死亡,经超声引导下胎儿评估确诊为纸样胎儿。对该患儿进行了全面检查,未发现其他先天性异常。染色体研究结果正常。给予外用抗菌软膏治疗,所有皮损在4周内自行消退,留有瘢痕。开始进行物理治疗以预防挛缩形成,并与整形外科团队协作安排了随访。
先天性皮肤发育不全是一种病因不明的罕见疾病,但近亲结婚可能起一定作用。本报告描述了一名患有Ⅴ型先天性皮肤发育不全的新生儿,根据临床特征和产前病史回顾确诊。治疗取决于皮损的类型、范围、部位、严重程度、潜在病因及相关异常情况。