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<article><div id="d-article"><div class="page-info"><div class="page-title"><a name="start" id="start">
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</a><h1 class="with-also" itemprop="name">Incontinentia pigmenti </h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Incontinentia pigmenti (IP) is a rare skin condition passed down through families. It affects the skin, hair, eyes, teeth, and nervous system.</p></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-1"><p>IP is caused by an <a test="test" href="./002050.htm">X-linked dominant</a> genetic defect that occurs on a gene known as IKBKG.</p><p>Because the gene defect occurs on the X chromosome, the condition is most often seen in females. When it occurs in males, it is usually lethal in the fetus and results in miscarriage.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Symptoms</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-2"><p>With the skin symptoms, there are 4 stages. Infants with IP are born with streaky, <a test="test" href="./003939.htm">blistering</a> areas. In stage 2, when the areas heal, they turn into rough bumps. In stage 3, the bumps go away, but leave behind darkened skin, called <a test="test" href="./003242.htm">hyperpigmentation</a>. After several years, the skin returns to normal. In stage 4, there may be areas of lighter-colored skin (<a test="test" href="./003224.htm">hypopigmentation</a>) that are thinner.</p><p>IP is associated with <a test="test" href="./002311.htm">central nervous system</a> problems, including:</p><ul><li>Delayed development</li><li>Loss of movement (paralysis)</li><li><a test="test" href="./001523.htm">Intellectual disability</a></li><li>Muscle spasms</li><li><a test="test" href="./003200.htm">Seizures</a></li></ul><p>People with IP may also have abnormal teeth, <a test="test" href="./003246.htm">hair loss</a>, and <a test="test" href="./003029.htm">vision problems</a>.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Exams and Tests</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-3"><p>Your child's health care provider will perform a physical exam, look at the eyes, and test muscle movement. </p><p>There may be unusual patterns and blisters on the skin, as well as bone abnormalities. An eye exam may reveal <a test="test" href="./001001.htm">cataracts</a>, <a test="test" href="./001004.htm">strabismus</a> (crossed eyes), or other problems.</p><p>To confirm the diagnosis, these tests may be done:</p><ul><li>Blood tests</li><li><a test="test" href="./003840.htm">Skin biopsy</a></li><li><a test="test" href="./003786.htm">CT</a> or <a test="test" href="./003791.htm">MRI</a> scan of the brain</li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Treatment</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-4"><p>There is no specific treatment for IP. Treatment is aimed at the individual symptoms. For example, glasses may be needed to improve vision. Medicine may be prescribed to help control seizures or muscle spasms.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Support Groups</h2></div><div class="section-button"><button type="submit" aria-controls="section-5" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-5"><p>More information and support groups for people with IP and their families can be found at:</p><ul><li>National Foundation for Ectodermal Dysplasias -- <a class="extln" target="_blank" href="https://www.nfed.org/about-us/how-we-help/">www.nfed.org/about-us/how-we-help/</a></li><li>National Organization for Rare Disorders -- <a class="extln" target="_blank" href="https://rarediseases.org/rare-diseases/incontinentia-pigmenti/">rarediseases.org/rare-diseases/incontinentia-pigmenti/</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Outlook (Prognosis)</h2></div><div class="section-button"><button type="submit" aria-controls="section-6" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-6"><p>How well a person does depends on the severity of central nervous system involvement and eye problems.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</h2></div><div class="section-button"><button type="submit" aria-controls="section-7" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-7"><p>Contact your provider if:</p><ul><li>You have a family history of IP and are considering having children</li><li>Your child has symptoms of this disorder </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Prevention</h2></div><div class="section-button"><button type="submit" aria-controls="section-8" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-8"><p><a test="test" href="../patientinstructions/000510.htm">Genetic counseling</a> may be helpful for those with a family history of IP who are considering having children.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Alternative Names</h2></div><div class="section-button"><button type="submit" aria-controls="section-Alt" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Alt"><p>Bloch-Sulzberger syndrome; Bloch-Siemens syndrome</p></div></div></section><section><div class="section sec-mb"><div class="section-header"><div class="section-title"><h2>Images</h2></div><div class="section-button"><button type="submit" aria-controls="section-tnails" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/2860t.jpg" alt="Incontinentia pigmenti on the leg" title="Incontinentia pigmenti on the leg" class="side-img"/><a href="../imagepages/2860.htm">Incontinentia pigmenti on the leg</a></li>
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/2861t.jpg" alt="Incontinentia pigmenti on the leg" title="Incontinentia pigmenti on the leg" class="side-img"/><a href="../imagepages/2861.htm">Incontinentia pigmenti on the leg</a></li>
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</ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Ref"><p>Islam MP, Roach ES. Neurocutaneous syndromes. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. <em>Bradley and Daroff’s Neurology in Clinical Practice.</em> 8th ed. Philadelphia, PA: Elsevier; 2022:chap 99.</p><p>James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM. Genodermatoses and congenital anomalies. In: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. <em>Andrews' Diseases of the Skin. </em>13th ed. Philadelphia, PA: Elsevier; 2020:chap 27.</p><p>Patterson JW. Disorders of pigmentation. In: Patterson JW, ed. <em>Weedon's Skin Pathology.</em> 5th ed. Philadelphia, PA: Elsevier Limited; 2021:chap 11.</p></div></div></section>
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