Medical Definition of Harlequin ichthyosis

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Harlequin ichthyosis: a very rare, severe inherited (genetic) disorder that results in hard, thick skin that forms diamond-shaped plates that are separated by cracks or fissures. Affected infants often develop dehydration and life-threatening infections in the first weeks of life, due to lack of function of the skin as a protective barrier. Harlequin ichthyosis is caused by mutations in the ABCD12 gene and is inherited in an autosomal recessive manner, meaning an affected person must receive one defective copy of the gene from each parent.

Reviewed on 9/7/2018

REFERENCE: Genetics Home Reference. "Harlequin ichthyosis." Nov 2008

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