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Other Names for this Disease
- Harlequin fetus
- Ichthyosis congenita, Harlequin fetus type
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Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. 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. Mutations in the ABCA12 gene cause harlequin ichthyosis. This condition is inherited in an autosomal recessive pattern.
- Harlequin ichthyosis. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=harlequinichthyosis. Accessed April 17, 2009.
- 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.
On this page
- 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.