PDF(Pubmed)
Abstract：
Kindler syndrome is a rare autosomal recessive inherited disease. The authors report a case with unique presentation that has never reported before in the medical Literatur\" lanugo hair\". This is a case of a 13-year-old Syrian child, who presented with difuse fine face hair, and serious urinary complications. Kindler syndrome is characterized by acral skin blistering beginning at birth, diffuse cutaneous atrophy, photosensitivity, poikiloderma, and various mucosal findings. Highlighting a set of clinical diagnostic criteria; which is used only if a genetic test is not available.
摘要：
Kindler综合征是一种罕见的常染色体隐性遗传病。作者报告了一个具有独特表现的病例，该病例以前从未在医学文献“羊毛”中报道过。这是一个13岁的叙利亚儿童的案例，他脸上长着细小的头发，和严重的泌尿并发症。Kindler综合征的特征是出生时开始的肢端皮肤起泡，弥漫性皮肤萎缩,光敏性,polikiloderma,和各种粘膜检查结果。突出一组临床诊断标准；只有在基因测试不可用的情况下才使用。
