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Diseases

Genetic and Rare Diseases Information Center (GARD)

Lamellar ichthyosis


Other Names for this Disease
  • Congenital lamellar ichthyosis
  • LI
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

Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly. Other signs and symptoms of the condition may include ectropion, lips that turn outwards, hair loss, palmoplantar hyperkeratosis (thick skin on the palms of the hands and/or soles of the feet), nail abnormalities, dehydration and respiratory problems. Although the condition may be caused by changes (mutations) in one of several different genes, approximately 90% of cases are caused by mutations in the TGM1 gene. Lamellar ichthyosis is generally inherited in an autosomal recessive manner.[1][2] Treatment is based on the signs and symptoms present in each person.[2][3]
Last updated: 2/2/2016

References

  1. Gabriele Richard, MD, FACMG and Sherri J Bale, PhD, FACMG. Autosomal Recessive Congenital Ichthyosis. GeneReviews. August 2014; http://www.ncbi.nlm.nih.gov/books/NBK1420/.
  2. Lamellar ichthyosis. Genetics Home Reference. March 2015; http://ghr.nlm.nih.gov/condition/lamellar-ichthyosis.
  3. Heather Kiraly Orkwis. Lamellar Ichthyosis. Medscape Reference. September 2014; http://emedicine.medscape.com/article/1111300-overview.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Lamellar ichthyosis. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • A Positive Exposure program called FRAME has an educational film about ichthyosis that was created to change how medical information is presented to healthcare professionals. FRAME stands for Faces Redefining the Art of Medical Education. Positive Exposure is an organization that uses photography, film, and narrative to transform public perceptions of people living with genetic, physical, intellectual, and behavioral differences.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet 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 Lamellar ichthyosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Congenital lamellar ichthyosis
  • LI
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.