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    Ichthyosis, Harlequin Type

    Important
    It is possible that the main title of the report Ichthyosis, Harlequin Type is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    Disorder Subdivisions

    • None

    General Discussion

    Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin infants need to be cared for in the neonatal intensive care unit immediately. Harlequin ichthyosis is inherited as an autosomal recessive trait.

    Resources

    Foundation for Ichthyosis & Related Skin Types
    2616 N Broad Street
    Colmar, PA 18915
    Tel: (215)997-9400
    Fax: (215)997-9403
    Tel: (800)545-3286
    Email: info@firstskinfoundation.org
    Internet: http://www.firstskinfoundation.org

    NIH/National Institute of Allergy and Infectious Diseases
    Office of Communications and Government Relations
    6610 Rockledge Drive, MSC 6612
    Bethesda, MD 20892-6612
    Tel: (301)496-5717
    Fax: (301)402-3573
    Tel: (866)284-4107
    TDD: (800)877-8339
    Email: ocpostoffice@niaid.nih.gov
    Internet: http://www.niaid.nih.gov/

    National Registry for Ichthyosis and Related Disorders
    University of Washington
    Dermatology Dept. Box 356524
    1959 N.E. Pacific Street
    Seattle, WA 98195-6524
    Tel: (800)595-1265
    Email: info@skinregistry.org
    Internet: http://www.skinregistry.org/

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    European Network for Ichthyosis (ENI)
    In den Dellen 21
    D-51515 Kürten
    Germany
    Tel: +49 2207849869
    Email: e-n-i@gmx.net
    Internet: http://www.ichthyosis.eu

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 4/5/2008
    Copyright 1988, 1989, 1991, 1992, 1993, 1997, 2004, 2006 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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