ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids

Document Type

Article

Publication Date

2-27-2019

Publication Title

Pediatric dermatology

Abstract

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.

PubMed ID

30809833

ePublication

ePub ahead of print

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