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    Glossary Harlequin Ichthyosis

    rare genetic disorder causing thick, scaly skin and severe complications

    Harlequin Ichthyosis is a rare genetic disorder characterized by thick, scaly skin that forms large, diamond-shaped plates separated by deep cracks. This condition is caused by mutations in the ABCA12 gene, which is crucial for the normal development of the skin barrier. Affected newborns often face severe complications, including dehydration, infections, and respiratory difficulties, requiring intensive medical care.

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    Research 30 of 69

    1. Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. PubMed · 1997 · 27 citations
    2. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    3. Care of the newborn with ichthyosis Dermatologic Therapy · 2013 · 49 citations
    4. Harlequin fetus with abnormal lamellar granules and giant mitochondria Journal of Cutaneous Pathology · 1992 · 34 citations
    5. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    6. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    7. First Symposium of Ichthyosis Experts 2013 · 1 citations
    8. A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification 2002 · 66 citations
    9. Hair follicles modulate skin barrier function Cell Reports · 2024 · 9 citations
    10. Dynamics of Hair Follicle Morphogenesis and Skin Homeostasis Deep Blue (University of Michigan) · 2018
    11. Disorders of Keratinization 2014
    12. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma British Journal of Dermatology · 2011 · 11 citations
    13. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    14. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    15. Inherited ichthyoses/generalized Mendelian disorders of cornification European journal of human genetics · 2012 · 81 citations
    16. Ichthyosis with confetti: a rare diagnosis and treatment plan BMJ case reports · 2014 · 7 citations
    17. ИХТИОЗ АРЛЕКИНО: КЛИНИЧЕСКИЙ СЛУЧАЙ 2026
    18. The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i> JAMA dermatology · 2014 · 22 citations
    19. Semidominant Inheritance in Epidermolytic Ichthyosis Journal of Investigative Dermatology · 2013 · 10 citations
    20. Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction International Journal of Molecular Sciences · 2015 · 16 citations
    21. Clinical Manifestation and Classification of Japanese patients with Inherited Keratinizing Disorders 2012 · 1 citations
    22. Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis International Journal of Women’s Dermatology · 2024
    23. Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs Frontiers in pharmacology · 2023
    24. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    25. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis Dermatology and Therapy · 2024 · 3 citations
    26. 371 Hair follicles are critical modulators of skin barrier function Journal of Investigative Dermatology · 2024
    27. 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
    28. A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response American Journal of Medical Genetics Part A · 2021 · 5 citations
    29. Collodion baby case series: the success of oral retinoic acid Türk pediatri arşivi : İstanbul çocuk kliniği dergisi · 2018 · 4 citations
    30. ИСПОЛЬЗОВАНИЕ ПОЛИНУКЛЕОТИДОВ В АНТИВОЗРАСТНОЙ ИНЪЕКЦИОННОЙ КОСМЕТОЛОГИИ С ПОЗИЦИИ ДОКАЗАТЕЛЬНОЙ МЕДИЦИНЫ 2026