Novel ABCA-12 mutations leading to recessive congenital ichthyosis.

Abstract:

:Mutations in the keratinocyte lipid transporter adenosine triphosphate-binding cassette A12 (ABCA12) are known to cause harlequin ichthyosis. More recently, mutations in this gene have been demonstrated to cause other phenotypes within the spectrum of recessive congenital ichthyosis. We report the case of an infant with novel heterozygous mutations in ABCA12 who exhibited features and a clinical course more consistent with congenital ichthyosiform erythroderma than harlequin ichthyosis.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Peterson H,Lofgren S,Bremmer S,Krol A

doi

10.1111/j.1525-1470.2011.01695.x

subject

Has Abstract

pub_date

2013-11-01 00:00:00

pages

e236-7

issue

6

eissn

0736-8046

issn

1525-1470

journal_volume

30

pub_type

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