Yang Xiu-Fang, Shi Shang-Wen, Chen Kang
Department of Neonatology, Zhongshan Hospital Affiliated to Sun Yat-Sen University, Zhongshan, China.
Molecular Inspection Center, Zhongshan Hospital Affiliated to Sun Yat-Sen University, Zhongshan, China.
Front Surg. 2023 Jan 11;9:1072021. doi: 10.3389/fsurg.2022.1072021. eCollection 2022.
Aplasia cutis congenita is a congenital disorder with the absence of skin, muscle and(or) bone. It usually affects the scalp. The presence of a large scalp defect can be potentially serious when complicated with hemorrhage and infection. Early healing of this condition is beneficial to improve the prognosis of infants.
A full-term newborn male was born with a round-shaped defect at the vertex of the scalp and skull (dimensions, 8 cm × 9 cm). The infant had a large deletion encompassing the 15.1 region of chromosome 15, including the gene. Genetic testing was positive for Adams-Oliver syndrome (AOS). After two months of recombinant human epidermal growth factor gel combined with kangfuxin solution therapy, the skin defects of the scalp healed remarkably. The infant had regular follow-up appointments. At the age of 5 months, the defect became smaller, hairless, and showed good granulation tissue. At 2 years of age, the child's Gesell Developmental Schedules was 70.
Recombinant human epidermal growth factor gel combined with kangfuxin solution was a successful conservative treatment for an infant with a large scalp defect accompanied by AOS.
先天性皮肤发育不全是一种先天性疾病，表现为皮肤、肌肉和（或）骨骼缺失。它通常影响头皮。当伴有出血和感染时，大面积头皮缺损可能会很严重。这种情况的早期愈合有利于改善婴儿的预后。
一名足月新生儿男性，出生时头皮和颅骨顶部有一个圆形缺损（尺寸为8厘米×9厘米）。该婴儿有一个包含15号染色体15.1区域的大片段缺失，包括 基因。基因检测显示亚当斯-奥利弗综合征（AOS）呈阳性。经过两个月的重组人表皮生长因子凝胶联合康复新液治疗，头皮皮肤缺损明显愈合。该婴儿定期进行随访。在5个月大时，缺损变小，无毛，肉芽组织良好。在2岁时，该儿童的格塞尔发育量表评分为70分。
重组人表皮生长因子凝胶联合康复新液是治疗一名伴有AOS的大面积头皮缺损婴儿的成功保守疗法。
