HARLEQUIN ICHTHYOSIS: CASE REPORT
Arini Rafiqoh1, Deviana S Riu2, Johnsen Mailoa3

1Obstetric and Gynecology Department, Hasanuddin University, Makassar Indonesia
2Obstetric and Gynecology Department, Fetomaternal Division,
Hasanuddin University, Makassar Indonesia

Abstract

Harlequin ichthyosis (HI) is the most severe form of a rare and lethal fetal anomaly with an incidence of about 1 in 300,000 births with a high mortality rate.
We present different Harlequin ichthyosis overview between the lethal and non-lethal harlequin ichthyosis congenital. The characterized HI by thickness, fissured armor-plate hyperkeratosis, microcephaly, flat fontanels, ears and nose deformities, ectropion, eclabium with fish mouth appearance, flexion deformities of all joints, and hypoplastic digits. The hyperkeratosis condition May cause a decrease in the barrier function of the skin which causes dehydration to the baby and prone to infection.
The routine ANC and ABCA12 gene mutation screening and preconception family genetic counseling are important.

Keywords: harlequin ichthyosis, ABCA 12 gen, autosomal recessive

Topic: Maternal, neonatal, and child health