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

Authors

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

Document Type

Article

Publication Date

5-1-2019

Publication Title

Pediatric Dermatology

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.

Volume

36

Issue

3

First Page

339

Last Page

341

Recommended Citation

Sharma A, Rozzelle A, Jahnke MN, Desai J, Shwayder TA, Kisseih E, Bryant JR, Agarwal P. ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids. Pediatr Dermatol. 2019 May;36(3):339-341. doi: 10.1111/pde.13770. Epub 2019 Feb 27. PMID: 30809833.

DOI

10.1111/pde.13770

ISSN

1525-1470

PubMed ID

30809833