ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids

Amit Sharma, Arlene Rozzelle, Marla N. Jahnke, Jagdish Desai, Tor A. Shwayder, Esther Kisseih, Justin R. Bryant, Prashant Agarwal

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)339-341
Number of pages3
JournalPediatric Dermatology
Volume36
Issue number3
DOIs
StatePublished - May 1 2019
Externally publishedYes

Keywords

  • ichthyosis
  • neonatal
  • retinoids

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