Ichthyosis, Harlequin Type

National Organization for Rare Disorders, Inc.

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

  • Ichthyosis Fetalis
  • Harlequin Fetus

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
1364 Welsh Road G2
North Wales, PA 19454
Tel: (215)619-0670
Fax: (215)619-0780
Tel: (800)545-3286
Email: info@scalyskin.org
Internet: http://www.scalyskin.org

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

National Registry for Ichthyosis and Related Disorders
University of Washington
Dermatology Department, Box 356524
1959 N.E. Pacific
Seattle, WA 98195-6524
Tel: (206)616-3179
Fax: (206)616-6793
Tel: (800)595-1265
Email: ichreg@u.washington.edu
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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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