ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids

Pediatric Dermatology
Amit SharmaPrashant Agarwal

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.

References

Jun 1, 1996·The British Journal of Dermatology·M LacourJ I Harper
Mar 10, 2005·American Journal of Human Genetics·David P KelsellEdel A O'Toole
Jul 12, 2005·The Journal of Clinical Investigation·Masashi AkiyamaHiroshi Shimizu
Jun 24, 2006·The British Journal of Dermatology·S F RajparC Moss
Feb 23, 2011·Archives of Dermatology·Shefali RajpopatEdel O'Toole
Oct 16, 2013·Journal of the American Academy of Dermatology·Leonard M Milstone, Keith A Choate

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