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<span>Generalized pustular psoriasis</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/generalized-pustular-psoriasis/</span>
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<article>
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<a name="start" id="start"></a>
<h1>Generalized pustular psoriasis</h1>
</div>
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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>Generalized pustular psoriasis (GPP) is a severe form of a skin disorder called psoriasis. GPP and other forms of psoriasis are caused by abnormal inflammation. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, when inflammation is abnormal and uncontrolled, it can damage the body's tissues and organs. Individuals with GPP have repeated episodes in which large areas of skin become red and inflamed and develop small pus-filled blisters (pustules). The skin problems can be accompanied by fever, extreme tiredness (fatigue), muscle weakness, an increased number of white blood cells, and other signs of inflammation throughout the body (systemic inflammation). The inflammation problems subside and reappear often. Episodes can be triggered by infection, exposure to or withdrawal from certain medications, menstruation, or pregnancy, although the trigger is often unknown. GPP can be life-threatening if not treated.</p><p>While many affected individuals have features only of GPP (called GPP alone), some develop features of another skin condition called <a class="image-modal" data-alt="Diagram showing development of psoriatic plaque" data-caption="" data-credit="ellepigrafica/Shutterstock.com" data-filepath="images/PX00011C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00011C" data-sourceurl="" data-title="Development of psoriasis" href="https://medlineplus.gov/images/PX00011C_PRESENTATION.jpeg" id="PX00011C_1" title="Show image">psoriasis vulgaris<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (PV), either before or after GPP appears. PV, the most common form of psoriasis, is characterized by red, scaly patches of skin (plaques) on parts of the body.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>GPP is the rarest form of psoriasis. Although the worldwide prevalence of GPP is unknown, the condition is estimated to affect 2 per million people in Europe. It also occurs in approximately 0.6 per million people each year in Japan.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Mutations in several genes, including <i><a data-pid="19829" href="https://medlineplus.gov/genetics/gene/il36rn/">IL36RN</a></i> and <i><a data-pid="19079" href="https://medlineplus.gov/genetics/gene/card14/">CARD14</a></i>, increase the risk of developing GPP. These two genes provide instructions for making proteins that play roles in regulating inflammation, particularly in the skin. The IL-36Ra protein, produced from the <i>IL36RN</i> gene, blocks the activity of specific proteins that trigger signaling pathways to promote skin inflammation. <i>IL36RN</i> gene mutations involved in GPP reduce the amount of IL-36Ra protein in the skin. Without control by IL-36Ra, signaling pathways that promote inflammation are overly active.</p><p>Conversely, the CARD14 protein normally turns on inflammation signaling. The <i>CARD14</i> gene mutations associated with GPP increase the activity of the CARD14 protein, leading to uncontrolled inflammation signaling in the skin. Enhancement of these signaling pathways results in abnormal inflammatory reactions, which contribute to the skin problems and systemic inflammation characteristic of GPP.</p><p><i>IL36RN</i> gene mutations are most often associated with GPP alone and are only rarely found in individuals who also have PV. Mutations in this gene appear to be the most common genetic risk factor for GPP alone. <i>CARD14</i> gene mutations are more frequently found in individuals with both GPP and PV, although changes in this gene have also been found in individuals with GPP alone.</p><p>Many people with GPP do not have a mutation in the <i>IL36RN</i> or <i>CARD14</i> gene. Mutations in other genes, some of which have not been identified, may also be associated with the condition. Having a gene mutation in one of the associated genes does not mean an individual will have GPP. Researchers suspect that environmental or other genetic factors help determine whether an individual will develop the condition.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the genes associated with Generalized pustular psoriasis</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/card14/">CARD14</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/il36rn/">IL36RN</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/130340" target="TheNewWin">AP1S3</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>When associated with <i><a data-pid="19829" href="https://medlineplus.gov/genetics/gene/il36rn/">IL36RN</a></i> gene mutations, risk of GPP is typically 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_2" 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.</p><p>When associated with <i><a data-pid="19079" href="https://medlineplus.gov/genetics/gene/card14/">CARD14</a></i> gene mutations, GPP risk is inherited in an <a class="image-modal" data-alt="A parent with an autosomal dominant condition passes the altered gene to two affected children. Two other children do not receive the altered gene, and are unaffected." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009C" data-sourceurl="" data-title="Autosomal dominant inheritance" href="https://medlineplus.gov/images/PX00009C_PRESENTATION.jpeg" id="PX00009C_4" title="Show image">autosomal dominant pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means one copy of the altered gene in each cell is sufficient to increase the risk of the disorder. In some cases, an affected person inherits the mutation from one parent. Other cases result from new (<a class="image-modal" data-alt="Neither parent has the mutated gene. A spontaneous mutation occurs during the formation of an egg or sperm cell during embryonic development, leading to an affected child." data-caption="
" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A8" data-sourceurl="" data-title="Autosomal dominant inheritance with a new (de novo) mutation" href="https://medlineplus.gov/images/PX0000A8_PRESENTATION.jpeg" id="PX0000A8_5" title="Show image">de novo<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) mutations in the gene.</p><p>People with mutations in either the <i>IL36RN</i> or <i>CARD14</i> gene inherit an increased risk of GPP, not the condition itself. Not all people with this condition have mutations in one of these genes, and not all people with a mutation in one of these genes will develop the disorder.</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>Acute generalised pustular psoriasis</li> <li>Deficiency of the interleukin-36 receptor antagonist</li> <li>DITRA</li> <li>Generalized pustular psoriasis of von Zumbusch</li> <li>GPP</li> <li>Von Zumbusch psoriasis</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/C0343055/" target="TheNewWin">Genetic Testing Registry: Generalized pustular psoriasis</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/C4015235/" target="TheNewWin">Genetic Testing Registry: Psoriasis 15, pustular, susceptibility to</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/12819/index" target="TheNewWin">Generalized pustular psoriasis</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=%22Generalized pustular psoriasis%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/602723" target="TheNewWin">PSORIASIS 2; PSORS2</a></li>
<li><a href="https://omim.org/entry/614204" target="TheNewWin">PSORIASIS 14, PUSTULAR; PSORS14</a></li>
<li><a href="https://omim.org/entry/616106" target="TheNewWin">PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO; PSORS15</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=%28Psoriasis%5BMAJR%5D%29+AND+%28generalized+pustular+psoriasis%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1080+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>Hussain S, Berki DM, Choon SE, Burden AD, Allen MH, Arostegui JI, Chaves A,
Duckworth M, Irvine AD, Mockenhaupt M, Navarini AA, Seyger MMB, Soler-Palacin P,
Prins C, Valeyrie-Allanore L, Vicente MA, Trembath RC, Smith CH, Barker JN, Capon
F. IL36RN mutations define a severe autoinflammatory phenotype of generalized
pustular psoriasis. J Allergy Clin Immunol. 2015 Apr;135(4):1067-1070.e9. doi:
10.1016/j.jaci.2014.09.043. Epub 2014 Nov 12. No abstract available. <a href="https://pubmed.ncbi.nlm.nih.gov/25458002" target="TheNewWin">Citation on PubMed</a></li>
<li>Jordan CT, Cao L, Roberson ED, Duan S, Helms CA, Nair RP, Duffin KC, Stuart
PE, Goldgar D, Hayashi G, Olfson EH, Feng BJ, Pullinger CR, Kane JP, Wise CA,
Goldbach-Mansky R, Lowes MA, Peddle L, Chandran V, Liao W, Rahman P, Krueger GG,
Gladman D, Elder JT, Menter A, Bowcock AM. Rare and common variants in CARD14,
encoding an epidermal regulator of NF-kappaB, in psoriasis. Am J Hum Genet. 2012
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