Malik Roopa, Kumar Viral, Chauhan Meenakshi, Nanda Smiti
PGIMS, Rohtak, Haryana, India.
Arch Gynecol Obstet. 2009 Sep;280(3):489-90. doi: 10.1007/s00404-009-0939-x. Epub 2009 Jan 24.
Harlequin icthyosis is a rare extremely severe autosomal recessive dermatosis. The appearance of newborn can be shocking to parents and health care providers. Prenatal diagnosis is possible only with great suspicion and can often be missed. To our knowledge only 100 cases have been reported so far, we report one case of harlequin icthyosis.
丑角样鱼鳞病是一种罕见的极其严重的常染色体隐性皮肤病。新生儿的外观可能会令父母和医护人员感到震惊。只有在高度怀疑的情况下才有可能进行产前诊断,而且往往会被漏诊。据我们所知,迄今为止仅报告了100例,我们报告1例丑角样鱼鳞病病例。