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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.

    Research 10 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
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