| Autor: |
Bari AU; Department of Dermatology, Combined Military Hospital, Malir Cantt, Karachi, Pakistan., Najmi SUA; Department of Dermatology, Combined Military Hospital, Malir Cantt, Karachi, Pakistan. |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP [J Coll Physicians Surg Pak] 2020 Jun; Vol. 30 (6), pp. 652-654. |
| DOI: |
10.29271/jcpsp.2020.06.652 |
| Abstrakt: |
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. Key Words: Harlequin ichthyosis, Autosomal recessive, Congenital ichthyosis, Twin pregnancy. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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