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Genetic and Rare Diseases Information Center (GARD)

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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
More Names
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Overview



What is nonbullous congenital ichthyosiform erythroderma?

How might nonbullous congenital ichthyosiform erythroderma be treated?


What is nonbullous congenital ichthyosiform erythroderma?

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: ALOX12BALOXE3 or NIPAL4. In some people with NBCIE, the cause of the disorder is unknown.[1][2]
Last updated: 10/7/2011

How might nonbullous congenital ichthyosiform erythroderma be treated?

There is currently no cure for nonbullous congenital ichthyosiform erythroderma (NBCIE). Treatment generally focuses on managing the specific signs and symptoms each individual has. For newborns, the most important goals are to provide a moist environment in an isolette, and to prevent and treat infections. Petrolatum-based creams and ointments are typically used to keep the skin soft and hydrated. As children age, keratolytic agents (agents that help the skin loosen and shed) such as alpha-hydroxy acid or urea preparations can be used to promote the peeling and thinning of the outer layer of the skin. For individuals with severe skin involvement, oral retinoid therapy may be recommended. However, because this is known to cause abnormalities in a developing fetus, it should be used with caution in women of child-bearing age. In general, any agents that irritate the skin should be avoided. Ectropion (turning out of the eyelid) can cause dryness of the cornea (especially at night), so artificial tears or prescription ointments may be used to keep the cornea moist.[2]

ClinicalTrials.gov provides access to information on clinical studies (including therapies) for different types of ichthyosis. To view a list of the studies currently listed, click here.
Last updated: 10/7/2011

References
  1. Nonbullous congenital ichthyosiform erythroderma. Genetics Home Reference. August 2010; http://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma. Accessed 10/7/2011.
  2. 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.