TY  - JOUR
TI  - Recurrent Case of a Rare and Devastating Entity: Harlequin Ichthyosis
AB  - Harlequin ichthyosis (HI) is a rare and severe form of congenital ichthyosis caused bytruncating mutations in the ABCA12 gene. Although it has many distinctive signs on perinatalsonography such as short limbs, wide gaping mouth, joint contractures, edema of the hands andfeet and cloudy amniotic fluids, it usually can not be diagnosed until birth. Herein, we report a caseof recurrent HI, which remained undiagnosed until labor at 38 weeks of gestational age. A multiparous woman presented to hospital at 38th weeks of gestation. There were no personal or familyhistory. Vaginal delivery was performed and a 3300 gram baby was delivered. The body of theneonate was covered with thick, armor like skin, have generalized edema and erythematous fissures,scanty hair, everted eyelids with exposed swollen conjunctiva, open mouth were noted at the firstexamination. Newborn was diagnosed to be having Harlequin ichthyosis and was given to neonatal intensive care unit (NICU) for supportive care and additional examination. Genetic counselingis important and should be recommended to affected families. With the growing technology electron microscopes, invasive prenatal diagnostic tools and 3D sonography may reveal suggestive features of the disease. In addition, new treatment regimens, experienced and competent NICUfacilities may increase survival rates.
AU  - kan, ozgur
AU  - ÇETİNDAĞ AYDIN, Elif Nazlı
AU  - ALKILIÇ, Ayşegül
DO  - 10.5336/caserep.2018-62258
PY  - 2019
JO  - Türkiye Klinikleri Journal of Case Reports
VL  - 27
IS  - 2
SN  - 2147-9291
SP  - 72
EP  - 74
DB  - TRDizin
UR  - http://search/yayin/detay/336174
ER  -