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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.

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    Research 30 of 794

    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
    11. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    12. 152 Alopecia patterns in patients with autosomal receesive congenital ichthyosis Journal of Investigative Dermatology · 2024
    13. Trichothiodystrophy Archives of Dermatology · 1980 · 175 citations
    14. Efficient In Vitro Transfection of Human Keratinocytes with an Adenovirus-Enhanced Receptor-Mediated System Journal of Investigative Dermatology · 2000 · 16 citations
    15. Sjogren-Larsson Syndrome 2009 · 8 citations
    16. Biochemical examination of fetal skin biopsy specimens obtained by fetoscopy: Use of the method for analysis of keratins and filaggrin Prenatal Diagnosis · 1986 · 7 citations
    17. Formation of the cornified envelope Experimental dermatology · 2005 · 3 citations
    18. Skin, Genetic Defects, and Aging SpringerBriefs in bioengineering · 2016
    19. Disorders of Keratinization 2014
    20. Bamboo Hair Syndrome or Netherton Syndrome - A Case Report IOSR journal of dental and medical sciences · 2017
    21. Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings 1995 · 124 citations
    22. Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production Journal of Investigative Dermatology · 2019 · 40 citations
    23. Collodion baby case series: the success of oral retinoic acid Türk pediatri arşivi : İstanbul çocuk kliniği dergisi · 2018 · 4 citations
    24. Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. PubMed · 1997 · 27 citations
    25. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma British Journal of Dermatology · 2011 · 11 citations
    26. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    27. Ichthyosis in Unani Medicine: A Comprehensive Review of Disorders of Cornification and their Modern Dermatological Correlates International Journal of Science and Research (IJSR) · 2026
    28. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    29. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    30. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations