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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Lamellar ichthyosis

Reviewed August 2010

What is lamellar ichthyosis?

Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically 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, but remaining effects include scaly skin and outward turning eyelids and lips. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin. Affected individuals may also have hair loss (alopecia), a decreased ability to sweat (hypohidrosis), and a thickening of the skin on the palms of the hands and soles of the feet (keratoderma). Less frequently, affected individuals have reddened skin (erythema) and joint deformities (contractures). Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems.

How common is lamellar ichthyosis?

Lamellar ichthyosis 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 individuals are affected.

What genes are related to lamellar ichthyosis?

Mutations in at least three genes can cause lamellar ichthyosis. 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 lamellar ichthyosis disrupt this protective barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections.

Mutations in the TGM1 gene are responsible for approximately 90 percent of cases of lamellar ichthyosis. TGM1 gene mutations lead to impaired formation of a structure called the cornified cell envelope, which surrounds skin cells in the epidermis. This envelope gives skin its flexibility by retaining water and helps protect the body from infection.

Mutations in the other genes associated with this condition are found in only a small percentage of cases. In some people with lamellar ichthyosis, the cause of the disorder is unknown. Researchers have identified several chromosome regions that may contain genes associated with lamellar ichthyosis, although they have not been able to identify the specific genes.

Related Gene(s)

Changes in these genes are associated with lamellar ichthyosis.

  • ABCA12
  • CYP4F22
  • TGM1

How do people inherit lamellar ichthyosis?

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 lamellar ichthyosis?

These resources address the diagnosis or management of lamellar ichthyosis and may include treatment providers.

  • Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips (http://www.firstskinfoundation.org/content.cfm/Ichthyosis/Skin-Care-Tips/page_id/528)
  • Foundation for Ichthyosis and Related Skin Types (FIRST): Treating Ichthyosis (http://www.firstskinfoundation.org/news-details.cfm/Ichthyosis-News/Treating-Ichthyosis/id/154)
  • Gene Review: Autosomal Recessive Congenital Ichthyosis (http://www.ncbi.nlm.nih.gov/books/NBK1420)
  • Genetic Testing Registry: Autosomal recessive congenital ichthyosis 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0020758)
  • Genetic Testing Registry: Autosomal recessive congenital ichthyosis 3 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1847849)
  • Genetic Testing Registry: Autosomal recessive congenital ichthyosis 4A (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1832550)
  • Genetic Testing Registry: Autosomal recessive congenital ichthyosis 5 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1858142)
  • Genetic Testing Registry: Autosomal recessive congenital ichthyosis 8 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3151377)

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

You may find the following resources about lamellar ichthyosis 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 lamellar ichthyosis?

  • collodion baby
  • collodion baby syndrome
  • ichthyoses, lamellar
  • ichthyosis, lamellar
  • LI

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 lamellar ichthyosis?

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

What glossary definitions help with understanding lamellar ichthyosis?

alopecia ; autosomal ; autosomal recessive ; cell ; chromosome ; dehydration ; epidermis ; erythema ; gene ; hypohidrosis ; ichthyosis ; infection ; inherited ; joint ; keratoderma ; recessive ; respiratory ; syndrome

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)
  • Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23. (http://www.ncbi.nlm.nih.gov/pubmed/18948357?dopt=Abstract)
  • Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19241467?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: November 24, 2014