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    Glossary Lamellar Ichthyosis

    rare genetic disorder causing thick, plate-like skin scales

    Lamellar Ichthyosis (LI) is a rare genetic skin disorder characterized by the formation of large, dark, plate-like scales over the entire body. It is caused by mutations in genes responsible for skin cell shedding and barrier function, leading to excessively thickened skin and impaired moisture retention. This condition is present from birth and requires lifelong management to alleviate symptoms and prevent complications.

    Research 10 of 796

    1. Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities Journal of the American Academy of Dermatology · 1980 · 61 citations
    2. Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene Journal of dermatology · 2015 · 10 citations
    3. LAMELLAR ICHTHYOSIS: ONE CASE REPORT International Journal of Medical Reviews and Case Reports · 2019 · 1 citations
    4. Surgical approach of ectropion in lamellar ichthyosis Journal of The American Academy of Dermatology · 2010
    5. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    6. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    7. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    8. Collodion baby to bathing suit ichthyosis: A 6-year follow-up Indian dermatology online journal · 2022
    9. Harlequin fetus with abnormal lamellar granules and giant mitochondria Journal of Cutaneous Pathology · 1992 · 34 citations
    10. Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome Pediatric dermatology · 2010 · 17 citations
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