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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

5 / 80 results

research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.

27 citations , July 1997 in “PubMed”

This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.

research Management of congenital ichthyoses: European guidelines of care, part two

66 citations , June 2018 in “British Journal of Dermatology”

These guidelines review the management of complications and specific forms of congenital ichthyosis and report no new results; they summarize expert and evidence-based recommendations for clinicians.

research Care of the newborn with ichthyosis

49 citations , January 2013 in “Dermatologic Therapy”

This review discusses the varying neonatal presentations of Mendelian disorders of cornification (ichthyosis) based on phenotypic groups but reports no new clinical results; the authors suggest categorizing these presentations to guide diagnosis and treatment.

research Harlequin fetus with abnormal lamellar granules and giant mitochondria

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

In this case study, electron microscopy revealed that harlequin ichthyosis involves giant mitochondria in keratinocytes and abnormal lamellar granule development, which may contribute to pathogenesis through altered lipid metabolism.

research New developments in the molecular treatment of ichthyosis: review of the literature

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

This review discusses recent advancements in therapies for ichthyosis, highlighting promising prospects in protein replacement and gene therapy, but it reports no new clinical results.

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