火棉胶样婴儿又称胶样婴儿(colloidbaby),是一种罕见的常染色体隐性遗传性疾病,我们最近发现一例,现报告如下:男,生后12h因皮肤异常急诊入院.第二胎第二产足月顺产,生后无窒息史,出生时全身被一种发亮的膜状物包裹.生后8h脐部皮肤开始大片状脱屑.父母非近亲婚配,家族中三代无皮肤病史及其他遗传病史,其母孕期无服用特殊药物史.其姐6岁,生长发育良好.体检;体温36℃,呼吸40,体重3000g,哭声响亮,发黑密,全身皮肤光亮如蜡,如羊皮纸样膜物覆盖,表面略干燥,触之稍硬.四肢伸展时皮肤紧张,屈曲时起皱纹,双眼睑外翻,结膜略充 Cotton wool-like baby, also known as colloid baby (colloidbaby), is a rare autosomal recessive genetic disease, we recently found a case, are reported as follows: Male, 12h after birth because of abnormal skin and emergency admission. The second full-term follow-up of secondary birth, after birth, no history of asphyxia, birth was a shiny film wrapped in. 8h after birth umbilical skin flake scaling parents non-relatives of marriage, the family of three generations without skin History and other genetic history, the mother had no history of taking special drugs during pregnancy. The sister of 6 years old, good growth and development. Physical examination; body temperature 36 ℃, breathing 40, weight 3000g, loud crying, black dense, Such as parchment-like membrane covering, the surface is slightly dry, slightly harder to touch. Extensions of the skin when the skin tension, wrinkles when buckling, double eyelid eversion, conjunctival slightly