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Pattern ichthyosis in a newborn

机译:新生儿型鱼鳞病

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A newborn boy was evaluated shortly after birth for generalized ichthyosis. He was born by spontaneous vaginal delivery to a 39-year-old G5P1A3 carrying a methionine tetrahydrofolate reductase mutation treated with heparin at 38 weeks gestation. Stunted growth of his femurs at 34 weeks noted on sonography complicated his prenatal course. The mother had generalized "dry skin" at birth, which subsequently became limited in distribution, and complained of "scars" involving her arms and legs that were red, scaly, and hairless. She mentioned having persistent hairless patches on her scalp present since birth and denied having focal loss of skin in these areas at birth. She denied problems with vision or hearing. She was short (5'1) but had no scoliosis. She had given birth to a girl with skin findings similar to those of the newborn boy; however she had given the newborn girl for adoption, so she was unsure about subsequent changes in her skin or overall health.
机译:刚出生后不久就对一名新生男孩进行了鱼鳞病的评估。他通过自发阴道分娩出生到一个39岁的G5P1A3上,该蛋白带有甲硫氨酸四氢叶酸还原酶突变,在妊娠38周时用肝素治疗。超声检查发现34周时股骨发育迟缓,使产前病情复杂。母亲在出生时泛起了“干性皮肤”,后来分布受限,并抱怨其胳膊和腿上有红色,鳞屑和无毛的“疤痕”。她提到自出生以来,头皮上就出现了持续的无毛斑块,并且否认在出生时这些部位皮​​肤出现局灶性丧失。她否认视力或听力有问题。她很矮(5'1),但没有脊柱侧弯。她生了一个女孩,皮肤发现与新生男孩相似。但是,她已经把新生女婴收养了,因此她不确定皮肤或整体健康状况的后续变化。

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