期刊
JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN
卷 30, 期 6, 页码 652-654出版社
COLL PHYSICIANS & SURGEONS PAKISTAN
DOI: 10.29271/jcpsp.2020.6.652
关键词
Harlequin ichthyosis; Autosomal recessive; Congenital ichthyosis; Twin pregnancy
Harlequin ichthyosis (HI) is a rare fatal type of congenital ichthyosis with autosomal recessive inheritance pattern. We report an uncommon presentation of a case of HI in a neonate, who was the second outcome of the dizygotic twin pregnancy of a Pakistani female. Whilst the first twin remained alive and healthy, HI baby was not able to survive beyond the third day of her life. Although very few cases of HI from Pakistan have been reported in the past; but this case being one of the outcomes of twin pregnancy is unique in its presentation; and to the best of authors' knowledge, has not been reported earlier.
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