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本文报告1例伴有多发性肺动脉分支狭窄、遗传类型不明的先天性皮肤松弛症.并对其临床、超微结构和生化特性等方面的可能相关性进行了探讨.患儿女,1980年生.出生后一个月颈部及躯干皮肤出现过度皱褶.8个月时检查呈典型的先天性皮肤松弛症(CCL),皮肤无增厚,关节活动正常,发育良好.体检除于胸骨左缘可听到心脏轻度收缩期吹风样杂音外,无其它异常.2岁和5岁时再检查,皮肤表现更加明显,皱褶增多,少数外观呈松垂样.声嘶、心前区可闻及二级吹风样杂音,并向胸右侧及背部传导.曾两次做超声心动图检查均诊断为多发性肺动脉分支狭窄,主动脉弯曲、扩张.化验检查只有血清铜增高.患儿8个月时,曾作皮肤活检标本地衣红染色,光镜下见真皮乳头
This article reports a case of congenital skin relaxations associated with multiple pulmonary artery stenosis and unknown genetic types, and discusses the possible correlations between clinical and ultrastructural features and biochemical characteristics. One month after birth, the neck and torso were over-wrinkled. At 8 months, they were examined for typical congenital cutaneous relaxations (CCL) without thickening of the skin, normal joint activity, and good development. Heard the heart mild systolic hair-like noise, no other abnormalities .2 years old and 5 years old re-examination, the skin showed more pronounced, folds increased, a few appearance was loose like. Hoarseness, precordial area can be heard Secondary hair-like noise, and conduction to the right side of the chest and back.Each of the echocardiography have been diagnosed as multiple pulmonary artery stenosis, aortic bending, dilatation.Experimental examination only serum copper increased in children with 8 months When the skin biopsy specimens were red dyed lichen, dermal papillae see light microscope