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GlossaryHarlequin 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 Harlequin Ichthyosis (ICHQ): A Juvenile Lethal Mouse Mutation with Ichthyosiform Dermatitis

27 citations , July 1997 in “PubMed”

The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.

research Harlequin Ichthyosis

1 citations , January 2017 in “Springer eBooks”

research Harlequin Fetus With Abnormal Lamellar Granules And Giant Mitochondria

34 citations , June 1992 in “Journal of Cutaneous Pathology”

Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.

research Care of the Newborn with Ichthyosis

49 citations , January 2013 in “Dermatologic Therapy”

Newborns with ichthyosis need specific care based on their skin type.

New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature

research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature

21 citations , July 2022 in “Orphanet journal of rare diseases”

New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.

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