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Diseases

Genetic and Rare Diseases Information Center (GARD)

Harlequin ichthyosis


Other Names for this Disease
  • Ichthyosis congenita, Harlequin fetus type
  • Harlequin fetus
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin.[1] 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.[2] Mutations in the ABCA12 gene cause harlequin ichthyosis.[1] This condition is inherited in an autosomal recessive pattern.[1][2] 
Last updated: 2/6/2015

References

  1. Harlequin ichthyosis. Genetics Home Reference (GHR). November 2008; http://ghr.nlm.nih.gov/condition=harlequinichthyosis. Accessed 2/6/2015.
  2. Ichthyosis, Harlequin Type. National Organization for Rare Disorders (NORD). 2006; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/546/viewAbstract. Accessed 2/6/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Harlequin ichthyosis. This website is maintained by the National Library of Medicine.
  • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • A Positive Exposure program called FRAME has an educational film about ichthyosis that was created to change how medical information is presented to healthcare professionals. FRAME stands for Faces Redefining the Art of Medical Education. Positive Exposure is an organization that uses photography, film, and narrative to transform public perceptions of people living with genetic, physical, intellectual, and behavioral differences.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Harlequin ichthyosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Ichthyosis congenita, Harlequin fetus type
  • Harlequin fetus
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.