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Other Names for this Disease
- Bullous congenital ichthyosiform erythroderma
- Bullous erythroderma ichthyosiformis congenita of Brocq
- Bullous ichthyosiform erythroderma
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Epidermolytic hyperkeratosis is a genetic skin disorder. It is characterized by widespread blistering and skin that is reddened, dry, thickened, and scaly (ichthyotic erythroderma). It is caused by mutations in the KRT1 or KRT10 genes. It has an autosomal dominant pattern of inheritance.
- KRT1. Genetic Home Reference. http://www.ghr.nlm.nih.gov/gene=krt1. Accessed April 28, 2010.
On this page
- Genetics Home Reference (GHR) contains a gene summary on KRT1 and KRT10. Mutations in these genes can cause bullous erythroderma ichthyosiformis congenita of Brocq. Click on the links above to go to GHR and review these summary pages.
- Genetics Home Reference (GHR) contains information on Epidermolytic hyperkeratosis. 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.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) offers printed materials on this topic. We recommend calling toll-free at 877-226-4267 to request a copy of this information.
- 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 Epidermolytic hyperkeratosis. 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 Epidermolytic hyperkeratosis. Click on the link to go to OMIM and review these resources.