Sporadic Isolated Aplasia Cutis Congenita

偶發性單一性先天性表皮發育不全

王璇璣(Hsuan-Chi Wang) ； 楊偉琪(Wei-Chi Yang) ； 張炯心(Chiung-Hsin Chang) ； 張峰銘(Fong-Ming Chang)

《Taiwanese Journal of Obstetrics & Gynecology》 42卷3期 (2003/09) Pp. 215-218

https://doi.org/10.29787/TJOG.200309.0011

摘要

目的：先天性表皮發育不全為一種少見的先天性疾病，但往往因為缺損體積過小而被忽略。我們報告一個在生產中意外發現的病例，並追蹤其是否有其他伴隨的問題，以及其治療與康復的過程。
病例報告：一位三十一歲女性之前並沒有顯著病史及家族史，懷孕中並無使用藥物，且產前檢查均正常。懷孕三十八週又六天時經剖腹產下一活產男嬰，母親健康良好。而新生兒頭部有一直徑一公分的表皮缺損，底部為頭骨，其他並無異常情形。證實為「偶發性單一性先天性表皮發育不全」。經照會皮膚科與神經外科醫師，決定以抗生素及傷口護理，做保守性治療。一週後，該先天性表皮發育不全傷口癒合，表皮完整。
結論：先天性表皮發育不全，可能伴隨其他遺傳症候群或外觀異常，但大多數為偶發性、單一性頭皮缺損。當先天性表皮發育不全傷口面積很小時，極易被忽略。由於部分病人有感染及顱內出血的危險，此疾病應藉由新生兒詳細身體檢查找出。治療方面，可依缺損之範圍及深度決定，是否以抗生素及傷口護理做保守性治療，或逕行手術矯正。

關鍵字

先天性表皮發育不全

並列摘要

Objective: As shown in published literatures, aplasia cutis congenita (ACC) is an uncommon anomaly among newborns and is often overlooked when the lesion is small. We report a case of ACC accidentally found at birth.
Case Report(s): A 31-year-old female, gravida 2 para 1, came to the hospital at 38 weeks and 6 days of gestation. She received regular prenatal care and the results of all tests were normal. Elective cesarean section was perlormed smoothly and a seemingly healthy male baby was born. Initial physical examination of the baby showed a round lesion sized 1 cm in diameter just over parietal area, near the vertex of the head. The floor of the lesion was bone, and aponeurosis can be seen. No protruding brain tissue or meninges were noted. Wound care with antibiotic ointment was undertaken for this lesion, and it healed in a week with only some fibrotic tissue left.
Conclusion(s): Aplasia cutis congenita is easily ignored when the lesion is small. A thorough examination is indicated in all newborns for any skin lesion and other accompanying anomalies. While surgical repair is necessary for large and complicated defects, pure skin lesions could be easily managed by conservative treatment of antibiotics and wound care.

並列關鍵字

aplasia cutis congenita