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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Lamellar ichthyosis


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Overview

What is lamellar ichthyosis?

How might lamellar ichthyosis be treated?

What is lamellar ichthyosis?

Lamellar ichthyosis is a rare genetic skin disorder in which the skin cells are produced at a normal rate, but they do not separate normally at the surface of the skin and are not shed as quickly as they should be; this results in the formation of scales. Lamellar ichthyosis is present at birth; many babies born with the condition are covered with a clear membrane (the collodion) and have skin that can be red or dark, tight and split. The eyelids and lips may be forced open by the tightness of the skin (which may continue into adulthood), and there may be contractures around the fingers. Other signs and symptoms may include problems with temperature regulation, water loss, secondary infections, thickened nails, and hair loss. The condition may be caused by mutations in any of several different genes and is usually inherited in an autosomal recessive manner. Treatment may include moisturizers, keratolytics, and oral synthetic retinoids (in severe cases).[1]
Last updated: 6/23/2011

How might lamellar ichthyosis be treated?

Unfortunately, there is no cure for lamellar ichthyosis. Management is generally symptomatic and supportive. For neonates, providing a moist environment in an isolette, preventing infection by hygienic handling, and treating infection are most important. Petrolatum-based creams and ointments are used to keep the skin soft, supple, and hydrated. As affected children become older, keratolytic agents such as alpha-hydroxy acid or urea preparations may be used to promote peeling and thinning of the stratum corneum (the outermost layer of skin cells). For individuals with ectropion (turning out of the eyelid), lubrication of the cornea with artificial tears or prescription ointments, especially at night, is helpful in preventing desiccation (drying out) of the cornea. Oral retinoid therapy may be recommended for those with severe skin involvement; however, side effects of this include bone toxicity and other complications. This type of therapy should be used with caution in women of child-bearing age because of concerns about teratogenicity (harm that the therapy may cause an unborn fetus).[2]
Last updated: 6/23/2011

References
  1. Ichthyosis, Lamellar. NORD. March 31, 208; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/544/viewAbstract. Accessed 6/23/2011.
  2. Sherri J Bale, Gabriele Richard. Autosomal Recessive Congenital Ichthyosis. GeneReviews. November 19, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1420/#li-ar.Management. Accessed 6/23/2011.


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.