新生儿皮肤再生不良1例

患儿女,2h。出生时即被发现双下肢多处皮肤缺损。无产伤史。皮肤科情况:双下肢内侧及右膝关节多处皮肤缺损,面积1.0cm×0.4cm^4.0cm×2.5cm,皮损中央的表皮缺失,可见淡红色肉芽组织,表面少许浆液渗出,外缘呈褐色,界清,但不规则。毛发及指/趾甲发育良好。予氯霉素乳膏外用2周,创面愈合良好。3个月后仅存局部色素分布不均匀。

父子同患先天性皮肤再生不良

例1男,出生半天,出生后即发现右下肢皮肤不规则缺损,基底部鲜红、潮湿,其上见少量黄白色渗出物。诊断:先天性皮肤再生不良。嘱患者家长保持创面清洁、干燥,外用重组牛碱性成纤维细胞生长因子溶液治疗,皮损逐渐好转。1个月后随访皮肤缺损处愈合,瘢痕形成。例2为例1之父,出生时右下肢皮肤缺损同例1,现右下肢可见灰白色羊皮纸样瘢痕,右足皮损轻度萎缩。

Bart’s Syndrome: A Neonatal Observation about a Case Report

Introduction: Bart’s syndrome is a rare neonatal pathology combining congenital skin aplasia affecting the extremities and congenital epidermolysis bullosa, exceptionally described on black skin. Observation: A 2-day-old male newborn was referred for multiple ulcerations of the limbs observed at birth. The clinical examination found an absence of bilateral and symmetrical skin occupying almost all of the two lower limbs with some flaccid bubbles. The vascular network was clearly visible. The rest of the skin coating was normal. The diagnosis of Bart syndrome in connection with epidermolysis bullosa was evoked clinically and despite pediatric and dermatological management, the evolution was rapidly fatal by severe sepsis. Discussion: Bart syndrome corresponds to a clinical picture of congenital skin aplasia associated with congenital epidermolysis bullosa suspected by areas of fragility and sometimes bubbles. All types of congenital epidermolysis bullosa may be associated with this syndrome. The clinical diagnosis is generally easy but the therapeutic management is difficult and the prognosis reserved. Conclusion: Bart syndrome is a curious congenital association of well-defined skin symptoms, the etiopathogeny of which still remains poorly elucidated, hence the difficulty of establishing an antenatal diagnostic strategy or giving appropriate genetic advice.

皮肤再生不良3例

报告3例皮肤再生不良。男性患儿2例,出生时分别于头顶正中见蚕豆大水疱,局部凹陷,无毛发;颈部萎缩性瘢痕3个,其中2个表面有水疱,双侧耳屏前下方绿豆大副耳。后者母亲妊娠17周时患单纯疱疹,外用过阿昔洛韦乳膏。均无类似家族史。女性患儿1例,出生时双下肢大面积皮肤缺损,部分大水疱,左足大拇趾部分缺失。其哥哥有类似病史。除女性患儿左足大拇趾仍部分缺失外,3例患儿分别于出生3个月、6周和1年后萎缩性瘢痕愈合。