Novel ABCA-12 Mutations Leading to Recessive Congenital Ichthyosis


to Haley Peterson, M.S., Oregon Health & Science University, 4908 Hastings Drive, Lake Oswego, OR 97035, or e-mail:


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.