Your browser does not support javascript:   Search for gard here,  Search for news-and-events here.

Recursos en español
ORDR Home Help FAQ Contact Us

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Harlequin ichthyosis

Other Names for this Disease
  • Harlequin fetus
  • Ichthyosis congenita, Harlequin fetus type
More Names
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.[1020] Mutations in the ABCA12 gene cause harlequin ichthyosis.[1] This condition is inherited in an autosomal recessive pattern.[1][1020] 

References

  1. Harlequin ichthyosis. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=harlequinichthyosis. Accessed April 17, 2009.
  2. Ichthyosis, Harlequin Type. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ichthyosis%2C%20Harlequin%20Type. Accessed April 17, 2009.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Harlequin ichthyosis have been answered. See questions and answers. You can also submit a new question.
On this page

General Information

  • Genetics Home Reference (GHR) contains information on Harlequin ichthyosis. Click on the link to go to GHR and review the information.
  • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Harlequin ichthyosis. Click on the link to go to OMIM and review these resources.