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Novel ABCA‐12 Mutations Leading to Recessive Congenital Ichthyosis
Author(s) -
Peterson Haley,
Lofgren Sabra,
Bremmer Samuel,
Krol Alfons
Publication year - 2012
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2011.01695.x
Subject(s) - congenital ichthyosis , ichthyosis , medicine , genetics , phenotype , dyskeratosis , hyperkeratosis , mutation , lamellar ichthyosis , dermatology , gene , biology
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.