Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation.

Abstract

A case of harlequin ichthyosis with compound heterozygous mutations in ABCA12 was successfully managed with intensive neonatal care and endotracheal intubation and without oral retinoids. The individual's appearance improved dramatically during hospitalization and at discharge resembled congenital ichthyosiform erythroderma.

• Authors: Arash Koochek, Keith A Choate, Leonard M Milstone
• Journal: Pediatric dermatology (Pediatr Dermatol) 2014 Mar-Apr Vol. 31 Issue 2 Pg. e63-4 ISSN: 1525-1470 [Electronic] United States
• PMID: 24274932 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2013 Wiley Periodicals, Inc.

Chemical References

• ABCA12 protein, human
• ATP-Binding Cassette Transporters

Topics

• ATP-Binding Cassette Transporters (genetics)
• Humans
• Ichthyosis, Lamellar (genetics, therapy)
• Infant, Newborn
• Male
• Mutation