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Genetics Home Reference: your guide to understanding genetic conditions
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Nonbullous congenital ichthyosiform erythroderma

Reviewed August 2010

What is nonbullous congenital ichthyosiform erythroderma?

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Individuals with NBCIE have skin that is red (erythema) and covered with fine white scales. Some people with NBCIE have outward turning eyelids and lips, a thickening of the skin on the palms and soles of the feet (keratoderma), and nails that do not grow normally (nail dystrophy). Infants with NBCIE may develop infections, an excessive loss of fluids (dehydration), and respiratory problems early in life.

How common is nonbullous congenital ichthyosiform erythroderma?

NBCIE is estimated to affect 1 in 200,000 to 300,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 90,000 people are affected.

What genes are related to nonbullous congenital ichthyosiform erythroderma?

Mutations in at least three genes can cause NBCIE. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The epidermis forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with NBCIE disrupt this protective barrier, making it more difficult for affected infants to control water loss, regulate body temperature, and fight infections.

Mutations in the ALOX12B and ALOXE3 genes are responsible for the majority of cases of NBCIE. Mutations in one other gene associated with this condition are found in only a small percentage of cases. In some people with NBCIE, the cause of the disorder is unknown. Researchers are looking for additional genes that are associated with NBCIE.

Related Gene(s)

Changes in these genes are associated with nonbullous congenital ichthyosiform erythroderma.

  • ALOX12B
  • ALOXE3
  • NIPAL4

How do people inherit nonbullous congenital ichthyosiform erythroderma?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of nonbullous congenital ichthyosiform erythroderma?

These resources address the diagnosis or management of nonbullous congenital ichthyosiform erythroderma and may include treatment providers.

  • Foundation for Ichthyosis and Related Skin Types (FIRST): Treatments (http://www.firstskinfoundation.org/content.cfm/category_id/0/page_id/830)
  • Gene Review: Autosomal Recessive Congenital Ichthyosis (http://www.ncbi.nlm.nih.gov/books/NBK1420/)
  • Genetic Testing Registry: Autosomal recessive congenital ichthyosis 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1855792)

You might also find information on the diagnosis or management of nonbullous congenital ichthyosiform erythroderma in Educational resources (http://www.ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about nonbullous congenital ichthyosiform erythroderma?

You may find the following resources about nonbullous congenital ichthyosiform erythroderma helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for nonbullous congenital ichthyosiform erythroderma?

  • collodion baby
  • congenital nonbullous ichthyosiform erythroderma

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about nonbullous congenital ichthyosiform erythroderma?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding nonbullous congenital ichthyosiform erythroderma?

autosomal ; autosomal recessive ; cell ; congenital ; dehydration ; epidermis ; erythema ; erythroderma ; gene ; ichthyosiform ; keratoderma ; recessive ; respiratory

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Akiyama M, Sawamura D, Shimizu H. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol. 2003 May;28(3):235-40. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12780701?dopt=Abstract)
  • Akiyama M. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci. 2006 May;42(2):83-9. Epub 2006 Feb 14. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16481150?dopt=Abstract)
  • Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol. 2009 Jun;129(6):1421-8. doi: 10.1038/jid.2008.409. Epub 2009 Jan 8. (http://www.ncbi.nlm.nih.gov/pubmed/19131948?dopt=Abstract)
  • Eckl KM, Krieg P, Küster W, Traupe H, André F, Wittstruck N, Fürstenberger G, Hennies HC. Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61. (http://www.ncbi.nlm.nih.gov/pubmed/16116617?dopt=Abstract)
  • Kawashima J, Akiyama M, Takizawa Y, Takahashi S, Matsuo I, Shimizu H. Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients. Clin Exp Dermatol. 2005 Jul;30(4):429-31. (http://www.ncbi.nlm.nih.gov/pubmed/15953088?dopt=Abstract)
  • Lefèvre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, Lathrop M, Prud'homme JF, Fischer J. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet. 2004 Oct 15;13(20):2473-82. Epub 2004 Aug 18. (http://www.ncbi.nlm.nih.gov/pubmed/15317751?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2010
Published: April 17, 2014