Novel ABCA-12 mutations leading to recessive congenital ichthyosis.

[harlequin ichthyosis]

Mutations in the keratinocyte lipid transporter adenosine triphosphate-binding cassette A 12 (ABCA 12 ) 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 ABCA 12 who exhibited features and a clinical course more consistent with congenital ichthyosiform erythroderma than harlequin ichthyosis .