Ichthyosis

    John J. DiGiovanna, Leslie Robinson‐Bostom
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    TLDR The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
    The document from 2003 reviews ichthyosis, a group of skin disorders with dry, scaly skin, discussing inherited and acquired forms, their genetic causes, clinical presentations, and management strategies. It highlights the most common form, ichthyosis vulgaris, and other types like X-linked ichthyosis, erythrokeratodermias, Sjögren-Larsson syndrome, Netherton's syndrome, Refsum's disease, Tay's syndrome (IBIDS), and PIBIDS syndrome. Acquired ichthyosis is linked to various underlying conditions, including malignancies and infections. Diagnosis is primarily clinical, supported by laboratory tests. Management includes topical therapies for hydration and keratolysis, and systemic treatments like retinoids for severe cases, with gene transfer as a potential future treatment. The document emphasizes the importance of precise diagnosis for prognosis and genetic counseling and the need for ongoing research into targeted therapies.
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