ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids.

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.

• Authors: Amit Sharma, Arlene Rozzelle, Marla N Jahnke, Jagdish Desai, Tor A Shwayder, Esther Kisseih, Justin R Bryant, Prashant Agarwal
• Journal: Pediatric dermatology (Pediatr Dermatol) Vol. 36 Issue 3 Pg. 339-341 (May 2019) ISSN: 1525-1470 [Electronic] United States
• PMID: 30809833 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2019 Wiley Periodicals, Inc.

Chemical References

• ABCA12 protein, human
• ATP-Binding Cassette Transporters
• Retinoids

Topics

• ATP-Binding Cassette Transporters (genetics)
• Female
• Humans
• Ichthyosis, Lamellar (diagnosis, genetics, therapy)
• Infant, Newborn
• Male
• Mutation (genetics)
• Retinoids (therapeutic use)