Ontology highlight
ABSTRACT:
SUBMITTER: Loo BKG
PROVIDER: S-EPMC5775800 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Loo Benny Kai Guo BKG Batilando Melissa Jeanne MJ Tan Ene Choo EC Koh Mark Jean Aan MJA
BMJ case reports 20180103
Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, presenting at birth with distinctive facial features and thick, plate-like scales over the entire body. The abnormal skin barrier predisposes the patient to multiple complications, including dehydration and sepsis. Mortality rates of babies with HI have been greatly reduced since the introduction of systemic retinoid therapy. Mutations in <i>ABCA12</i> have been found to lead to HI. Most of these muta ...[more]