Print friendly version
Nonbullous congenital ichthyosiform erythroderma
Other Names for this Disease
- CIE
- Congenital ichthyosiform erythroderma
- Ichthyosiform erythroderma, Brocq congenital, nonbullous form
- Ichthyosiform erythroderma, congenital, nonbullous, 1
- NBCIE
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
Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of 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.[1][2]
References
- Nonbullous congenital ichthyosiform erythroderma. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma. Accessed October 7, 2011.
- Sherri J Bale, Gabriele Richard. Autosomal Recessive Congenital Ichthyosis. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1420/. Accessed October 7, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Nonbullous congenital ichthyosiform erythroderma 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 Nonbullous congenital ichthyosiform erythroderma. 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.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Nonbullous congenital ichthyosiform erythroderma. Click on the link to go to OMIM and review these resources.