Devnani Joti, Kumari Ujalla
Joti Devnani, Ziauddin Medical College, Ziauddin University, Karachi, Pakistan.
Ujalla Kumari, Ziauddin Medical College, Ziauddin University, Karachi, Pakistan.
Pak J Med Sci. 2019 Sep-Oct;35(5):1472-1474. doi: 10.12669/pjms.35.5.916.
Harlequin Ichthyosis (HI) is a dreadful skin disorder with steady rise of cases with prolonged survival. Harlequin fetus follows an autosomal recessive pattern with the incidence of 1in 300,000 live births. In the succeeding case report, a male child was born with keratinized and kaleidoscopic diamond pattern of skin suggestive of HI. He was born at 36th week of gestation from consanguineous marriage. The newborn remained under extensive intensive care in a tertiary care unit where he breathed his last on 11th day after birth. Prenatal diagnosis and genetic counseling is of vital importance due to the association of mutation with HI.
丑角鱼鳞病（HI）是一种可怕的皮肤疾病，随着患者生存期延长，病例数稳步上升。丑角胎儿遵循常染色体隐性遗传模式，活产发病率为1/300000。在接下来的病例报告中，一名男婴出生时皮肤呈角质化和万花筒状菱形图案，提示为丑角鱼鳞病。他在妊娠第36周时由近亲结婚的父母所生。新生儿在三级护理病房接受了广泛的重症监护，于出生后第11天死亡。由于突变与丑角鱼鳞病相关，产前诊断和遗传咨询至关重要。
