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    Glossary Congenital Ichthyosis

    genetic skin disorder causing dry, scaly skin at birth

    Congenital Ichthyosis, also known as Ichthyosis Congenita, is a group of rare genetic skin disorders present at birth, characterized by dry, scaly skin that resembles fish scales. These conditions result from mutations in genes responsible for skin barrier function, leading to abnormal skin shedding and thickening.

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    1. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    2. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    3. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma British Journal of Dermatology · 2011 · 11 citations
    4. Recent advances in congenital ichthyoses 2015 · 10 citations
    5. Autosomal recessive congenital ichthyosis due to <i>PNPLA1</i> mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy Veterinary dermatology · 2016 · 9 citations
    6. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    7. Prioritization of therapy uncertainties in congenital ichthyosis: results from a Priority Setting Partnership 2015 · 5 citations
    8. Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother SAGE Open Medical Case Reports · 2024
    9. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 Revista Paulista de Pediatria · 2023
    10. A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters 2012
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