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</div><div><span>Noonan syndrome with multiple lentigines</span></div></div>
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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">Noonan syndrome with multiple lentigines</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Noonan syndrome with multiple lentigines (NSML) is a rare inherited disorder. People with this condition have problems with the skin, head and face, inner ear, and heart. The genitals may also be affected.</p><p>Noonan syndrome with multiple lentigines was formerly known as LEOPARD syndrome.</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>NSML is inherited as an autosomal dominant trait. This means the person only needs an abnormal gene from one parent in order to inherit the disorder.</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>The former name of NSML of LEOPARD stands for the different problems (signs and symptoms) of this disorder:</p><ul><li><strong>L</strong>entigines -- large number of brown or black freckle-like skin markings that mainly affect the neck and upper chest but can appear all over the body</li><li><a test="test" href="./003868.htm">Electrocardiograph</a> conduction abnormalities -- problems with the electrical and pumping functions of the heart</li><li><strong>O</strong>cular hypertelorism -- eyes that are spaced wide apart</li><li><a test="test" href="./001096.htm">Pulmonary valve stenosis</a> -- narrowing of the pulmonary heart valve, resulting in less blood flow to the lungs and causing shortness of breath</li><li><strong>A</strong>bnormalities of the genitals -- such as <a test="test" href="./000973.htm">undescended testicles</a></li><li><strong>R</strong>etardation of growth (<a test="test" href="./003021.htm">delayed growth</a>) -- including bone growth problems of the chest and spine</li><li><strong>D</strong>eafness -- hearing loss may vary between mild and severe</li></ul><p>NSML is similar to <a test="test" href="./001656.htm">Noonan syndrome</a>. However, the main symptom that tells apart the two conditions is that people with NSML have lentigines.</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 health care provider will perform a physical exam and listen to the heart with a stethoscope. </p><p>Tests that may be done include:</p><ul><li>Electrocardiogram (ECG) and <a test="test" href="./003869.htm">echocardiogram</a> to check the heart
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</li><li>Hearing test</li><li>CT scan of the brain</li><li>Skull x-ray</li><li>EEG to check the brain's function</li><li>Blood tests to check certain hormone levels</li><li>Removing a small amount of skin for examination (<a test="test" href="./003840.htm">skin biopsy</a>)</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>Symptoms are treated as appropriate. A hearing aid may be needed. Hormone treatment may be necessary at the expected time of puberty to cause the normal changes to occur.</p><p>Laser, cryosurgery (freezing), or bleaching creams may help lighten some of the brown spots on the skin.</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 for people with LEOPARD syndrome and their families can be found at:</p><ul><li>National Organization for Rare Disorders - <a class="extln" target="_blank" href="https://rarediseases.org/rare-diseases/leopard-syndrome/">rarediseases.org/rare-diseases/leopard-syndrome/</a></li><li>Noonan Syndrome Foundation - <a class="extln" target="_blank" href="https://www.teamnoonan.org/information">www.teamnoonan.org/information</a></li><li>Rasopathies Network - <a class="extln" target="_blank" href="https://rasopathiesnet.org/">rasopathiesnet.org/</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Possible Complications</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>Complications vary and include:</p><ul><li>Deafness</li><li>Delayed puberty</li><li>Heart problems</li><li><a test="test" href="./001191.htm">Infertility</a></li></ul></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 there are symptoms of this disorder.</p><p>Contact your provider for an appointment if you have a family history of this disorder and plan to have children.</p></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> is recommended for people with a family history of NSLM who want to have 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>Multiple lentigines syndrome; LEOPARD syndrome; NSML</p></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>James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM. Melanocytic nevi and neoplasms. In: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. <em>Andrews' Diseases of the Skin: Clinical Dermatology</em>. 13th ed. Philadelphia, PA: Elsevier; 2020:chap 30.</p><p>Paller AS, Mancini AJ. Disorders of pigmentation. In: Paller AS, Mancini AJ, eds. <em>Paller and Mancini – Hurwitz Clinical Pediatric Dermatology</em>. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 11.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 5/31/2023</h2></div><div class="section-button"><button type="submit" aria-controls="section-version" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<div id="section-version" class="section-body"><p>Updated by: Ramin Fathi, MD, FAAD, Director, Phoenix Surgical Dermatology Group, Phoenix, AZ. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.</p>
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