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.
- 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.