This chapter reviews various skin disorders classified as Mendelian disorders of cornification and reports no new clinical findings, highlighting the complexity of genetics involved in inherited ichthyoses.
21 citations
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July 2022 in “Orphanet journal of rare diseases” This review discusses recent advancements in therapies for ichthyosis, highlighting promising prospects in protein replacement and gene therapy, but it reports no new clinical results.
44 citations
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January 2004 in “American journal of clinical dermatology” This review covers various disorders of cornification and their treatments, offering clinical insights but reporting no new research findings.
10 citations
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July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” This review discusses updates in the genetics and clinical understanding of congenital ichthyosis and highlights the addition of N-acetylcysteine and topical enzyme replacement to the treatment options, without providing new clinical results.
81 citations
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June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.