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

Arash Koochek; Keith A Choate; Leonard M Milstone

doi:10.1111/pde.12263

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

Pediatr Dermatol. 2014 Mar-Apr;31(2):e63-4. doi: 10.1111/pde.12263. Epub 2013 Nov 26.

Authors

Arash Koochek¹, Keith A Choate, Leonard M Milstone

Affiliation

¹ Department of Dermatology, School of Medicine, Yale University, New Haven, Connecticut.

PMID: 24274932
DOI: 10.1111/pde.12263

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.

Publication types

Case Reports

MeSH terms

ATP-Binding Cassette Transporters / genetics*
Humans
Ichthyosis, Lamellar / genetics*
Ichthyosis, Lamellar / therapy*
Infant, Newborn
Male
Mutation*

Substances

ABCA12 protein, human
ATP-Binding Cassette Transporters