Nonbullous congenital ichthyosiform erythroderma
Other Names for this Disease
- Ichthyosiform erythroderma, congenital, nonbullous, 1
- Ichthyosiform erythroderma, Brocq congenital, nonbullous form
- Congenital ichthyosiform erythroderma
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ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). Some people with NBCIE also have outward turning eyelids (ectropion); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). NBCIE may be caused by mutations in any one of at least three genes: ALOX12B, ALOXE3 or NIPAL4. In some people with NBCIE, the cause of the disorder is unknown.Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of
Last updated: 10/7/2011
- Nonbullous congenital ichthyosiform erythroderma. Genetics Home Reference. August 2010; http://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma. Accessed 10/7/2011.
- Sherri J Bale, Gabriele Richard. Autosomal Recessive Congenital Ichthyosis. GeneReviews. November 19, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1420/. Accessed 10/7/2011.
- Genetics Home Reference (GHR) contains information on Nonbullous congenital ichthyosiform erythroderma. 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 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.
- !LINK! 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 Nonbullous congenital ichthyosiform erythroderma. Click on the link to view a sample search on this topic.