ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids.
Sharma A, Rozzelle A, Desai J, Shwayder T, Kisseih E, Bryant JR, Agarwal P. ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids.. Pediatric dermatology 2019; .
Harlequin ichthyosis (HI) is associated with high mortality. Early systemic retinoids are widely used, although their use remains debatable. We reported two neonates with homozygous mutations in ABCA12 consistent with harlequin ichthyosis who survived to discharge home with intensive care and without use of systemic retinoids.
ePub ahead of print