Care of the Newborn with Ichthyosis

    January 2013 in “ Dermatologic Therapy
    John A. Dyer, Mary K. Spraker, Mary L. Williams
    Studysummary This review discusses the varying neonatal presentations of Mendelian disorders of cornification (ichthyosis) based on phenotypic groups but reports no new clinical results; the authors suggest categorizing these presentations to guide diagnosis and treatment.
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    The article discussed the challenges in diagnosing and managing newborns with Mendelian disorders of cornification, commonly known as ichthyosis, which often present unexpectedly in the neonatal period. It highlighted that the initial presentation of these disorders can differ significantly from their later manifestations due to the transition from intrauterine to extrauterine environments. The authors categorized neonatal ichthyosis into several phenotypic groups: exuberant vernix, collodion baby/harlequin ichthyosis, ichthyosiform erythroderma, blistering, and normal skin/xerosis. Recognizing these phenotypes was emphasized as crucial for guiding initial diagnosis and treatment strategies.
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