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<span>Lamellar ichthyosis</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/lamellar-ichthyosis/</span>
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<article>
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<div class="page-title">
<a name="start" id="start"></a>
<h1>Lamellar ichthyosis</h1>
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<div class="main">
<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>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 usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to sweat (hypohidrosis), an increased sensitivity to heat, 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).</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>Lamellar ichthyosis is estimated to affect 1 in 100,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 91,000 individuals are affected.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Mutations in one of many genes can cause lamellar ichthyosis. These genes provide instructions for making proteins that are found in the outermost layer of the skin (<a class="image-modal" data-alt="Cell layers of the epidermis. The youngest cells are on the bottom, in the stratum basale, and the oldest cells are on the top, forming the outermost layer, called the stratum corneum." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX0000TC_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000TC" data-sourceurl="" data-title="Layers of the epidermis" href="https://medlineplus.gov/images/PX0000TC_PRESENTATION.jpeg" id="PX0000TC_1" title="Show image">the epidermis<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). The skin abnormalities associated with lamellar ichthyosis disrupt the normal formation of the epidermis, resulting in impaired regulation of body temperature, water retention, and resistance to infections.</p><p>Mutations in the <i><a data-pid="18487" href="https://medlineplus.gov/genetics/gene/tgm1/">TGM1</a></i> gene are responsible for approximately 90 percent of cases of lamellar ichthyosis. The <i>TGM1</i> gene provides instructions for making an enzyme called transglutaminase 1. This enzyme is involved in the formation of the cornified cell envelope, which is a structure that surrounds skin cells and helps form a protective barrier between the body and its environment. <i>TGM1</i> gene mutations lead to severely reduced or absent enzyme production, which prevents the formation of the cornified cell envelope.</p><p>Mutations in other genes associated with lamellar ichthyosis are each responsible for only a small percentage of cases. In some people with lamellar ichthyosis, the cause of the disorder is unknown. Researchers have identified multiple chromosome regions that contain genes that may be associated with lamellar ichthyosis, although the specific genes have not been identified.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the genes associated with Lamellar ichthyosis</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/abca12/">ABCA12</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/tgm1/">TGM1</a></li>
</ul>
<p><strong>Additional Information from NCBI Gene:</strong></p>
<ul class="relatedmp">
<li><a href="https://www.ncbi.nlm.nih.gov/gene/126410" target="TheNewWin">CYP4F22</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/643418" target="TheNewWin">LIPN</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/348938" target="TheNewWin">NIPAL4</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, 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.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Collodion baby</li> <li>Collodion baby syndrome</li> <li>Ichthyoses, lamellar</li> <li>Ichthyosis, lamellar</li> <li>LI</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C3539888/" target="TheNewWin">Genetic Testing Registry: Autosomal recessive congenital ichthyosis 3</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C1832550/" target="TheNewWin">Genetic Testing Registry: Autosomal recessive congenital ichthyosis 4A</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C1858133/" target="TheNewWin">Genetic Testing Registry: Autosomal recessive congenital ichthyosis 5</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C3553029/" target="TheNewWin">Genetic Testing Registry: Autosomal recessive congenital ichthyosis 8</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0020758/" target="TheNewWin">Genetic Testing Registry: Congenital ichthyosis of skin</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/10803/index" target="TheNewWin">Lamellar ichthyosis</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22Lamellar ichthyosis%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/601277" target="TheNewWin">ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A</a></li>
<li><a href="https://omim.org/entry/242300" target="TheNewWin">ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1</a></li>
<li><a href="https://omim.org/entry/604777" target="TheNewWin">ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5</a></li>
<li><a href="https://omim.org/entry/606545" target="TheNewWin">ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3; ARCI3</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Ichthyosis,+Lamellar%29+AND+%28lamellar+ichthyosis%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1800+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a
review of genotype/phenotype correlations and of pathogenetic concepts. Hum
Mutat. 2010 Oct;31(10):1090-6. doi: 10.1002/humu.21326. <a href="https://pubmed.ncbi.nlm.nih.gov/20672373" target="TheNewWin">Citation on PubMed</a></li>
<li>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. <a href="https://pubmed.ncbi.nlm.nih.gov/18948357" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3044481/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>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. <a href="https://pubmed.ncbi.nlm.nih.gov/19241467" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3243309/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Israeli S, Khamaysi Z, Fuchs-Telem D, Nousbeck J, Bergman R, Sarig O, Sprecher
E. A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of
autosomal-recessive congenital ichthyosis. Am J Hum Genet. 2011 Apr
8;88(4):482-7. doi: 10.1016/j.ajhg.2011.02.011. <a href="https://pubmed.ncbi.nlm.nih.gov/21439540" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071911/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere
P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T,
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