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</div><div><span>Nevoid basal cell carcinoma syndrome</span></div></div>
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</a><h1 class="with-also" itemprop="name">Nevoid basal cell carcinoma syndrome</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Nevoid basal cell carcinoma syndrome is a group of conditions passed down through families. The disorder involves the skin, nervous system, eyes, <a test="test" href="./002351.htm">endocrine</a> glands, urinary and reproductive systems, and bones.</p><p>It causes an unusual facial appearance and a higher risk for skin cancers and noncancerous tumors.</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>Nevoid basal cell carcinoma syndrome is a rare genetic condition. The main gene linked to the syndrome is known as PTCH (patched). A second gene, called SUFU, has also been associated with this condition.</p><p>Variations in these genes are most commonly passed down through families as an <a test="test" href="./002049.htm">autosomal dominant</a> trait. This means you develop the syndrome if either parent passes the gene to you. If either of your parents has this syndrome, you have a 50% chance of having it. It is also possible to develop this gene variation with no family history.</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>Main symptoms of this disorder are:</p><ul><li>A type of skin cancer called <a test="test" href="./000824.htm">basal cell carcinoma</a> that develops around the time of puberty</li><li>A noncancerous tumor of the jaw, called keratocystic odontogenic tumor that also develops during puberty</li></ul><p>Other symptoms include:</p><ul><li>Broad nose</li><li><a test="test" href="./001051.htm">Cleft palate</a></li><li>Heavy, protruding brow</li><li>Jaw that sticks out (in some cases)</li><li>Wide-set eyes </li><li>Pitting on palms and soles</li></ul><p>The condition may affect the nervous system and lead to:</p><ul><li>Eye problems</li><li>Deafness</li><li><a test="test" href="./001523.htm">Intellectual disability</a></li><li><a test="test" href="./003200.htm">Seizures</a></li><li>Tumors of the brain</li></ul><p>The condition also leads to bone defects, including:</p><ul><li>Curvature of the back (<a test="test" href="./001241.htm">scoliosis)</a></li><li>Severe curvature of the back (<a test="test" href="./001240.htm">kyphosis</a>) </li><li>Abnormal ribs</li></ul></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>There may be a family history of this disorder and a past history of basal cell skin cancers.</p><p>Tests may reveal:</p><ul><li><a test="test" href="./000768.htm">Brain tumors</a></li><li>Cysts in the jaw, which can lead to abnormal tooth development or jaw fractures</li><li>Abnormalities in the colored part (iris) or lens of the eye</li><li>Head swelling due to fluid on the brain (<a test="test" href="./001571.htm">hydrocephalus)</a></li><li>Rib abnormalities</li></ul><p>Tests that may be done include:</p><ul><li><a test="test" href="./003869.htm">Echocardiogram</a> (ultrasound of the heart)</li><li>Genetic testing (in some people)</li><li><a test="test" href="./003791.htm">MRI of the brain</a></li><li><a test="test" href="./003840.htm">Skin biopsy</a> of tumors</li><li>X-rays of the bones, <a test="test" href="./003801.htm">teeth</a>, and skull</li><li><a test="test" href="./003336.htm">Ultrasound</a> to check for ovarian tumors</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>It is important to get examined by a skin specialist (dermatologist) often, so that skin cancers may be treated while they are still small.</p><p>People with this disorder may also be seen and treated by other specialists, depending on which part of the body is affected. For example, a cancer specialist (oncologist) may treat tumors in the body, and an orthopedic surgeon may help treat bone problems.</p></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-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>Frequent follow-up with a variety of specialists is important for having a good outcome.</p></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>People with this condition may develop:</p><ul><li><a test="test" href="./003040.htm">Blindness</a></li><li>Brain tumor</li><li><a test="test" href="./003044.htm">Deafness</a></li><li><a test="test" href="./000001.htm">Fractures</a></li><li>Ovarian tumors</li><li>Cardiac fibromas</li><li>Skin damage and severe scarring due to skin cancers </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 health care provider if:</p><ul><li>You or any family members have nevoid basal cell carcinoma syndrome, especially if you are planning to have a child.</li><li>You have a child who 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>Couples with a family history of this syndrome might consider <a test="test" href="../patientinstructions/000510.htm">genetic counseling</a> before becoming pregnant.</p><p>Staying out of the sun and using sunscreen can help prevent new basal cell skin cancers.</p><p>Avoid radiation such as x-rays. People with this condition are very sensitive to radiation. Exposure to radiation can lead to skin cancers.</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>NBCC syndrome; Gorlin syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome (BCNS); Basal cell cancer - nevoid basal cell carcinoma 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/1945t.jpg" alt="Basal cell nevus syndrome - close-up of palm" title="Basal cell nevus syndrome - close-up of palm" class="side-img"/><a href="../imagepages/1945.htm">Basal cell nevus syndrome - close-up of palm</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>Epstein EH. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). In: Lebwohl MG, Heymann WR, Coulson IH, Murrell DF, eds. <em>Treatment of Skin Disease: Comprehensive Therapeutic Strategies.</em> 6th ed. Philadelphia, PA: Elsevier; 2022:chap 170.</p><p>Martin KL. Tumors of the skin. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. <em>Nelson Textbook of Pediatrics</em>. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 711.</p><p>Walsh MF, Cadoo K, Salo-Mullen EE, Dubard-Gault M, Stadler ZK, Offit K. Genetic factors: hereditary cancer predisposition syndromes. In: Niederhuber JE, Armitage JO, Kastan MB, Doroshow JH, Tepper JE, eds. <em>Abeloff's Clinical Oncology.</em> 6th ed. Philadelphia, PA: Elsevier; 2020:chap 13.</p></div></div></section>
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