Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation
Article first published online: 26 NOV 2013
© 2013 Wiley Periodicals, Inc.
Volume 31, Issue 2, pages e63–e64, March/April 2014
How to Cite
Koochek, A., Choate, K. A. and Milstone, L. M. (2014), Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation. Pediatric Dermatology, 31: e63–e64. doi: 10.1111/pde.12263
- Issue published online: 9 MAR 2014
- Article first published online: 26 NOV 2013
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.