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<!--
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||
UID=1648304
|
||
ConceptID=C4721806
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Skin basal cell carcinoma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648304</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4721806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Basal Cell Carcinoma; Basal Cell Carcinomas; Basal Cell Epithelioma; Basal Cell Epitheliomas; Carcinoma, Basal Cell; Carcinomas, Basal Cell; Epithelioma, Basal Cell; Epitheliomas, Basal Cell; Rodent Ulcer; Rodent Ulcers; Ulcer, Rodent; Ulcers, Rodent</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Cancer of skin, basal cell (254701007); Basal cell epithelioma (1338007); Basal cell carcinoma of skin (254701007); Rodent ulcer (254701007); Basalioma (254701007); BCC - Basal cell carcinoma of skin (254701007); RU - Rodent ulcer (254701007); Basal cell epithelioma (254701007)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002671">HP:0002671</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0005341" target="_blank">MONDO:0005341</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">The presence of a basal cell carcinoma of the skin. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Skin basal cell carcinoma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/10294" ref="tree=MeSH" title="MedGen record for Neoplasm">Neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/277963" ref="tree=MeSH" title="MedGen record for Epithelial neoplasm">Epithelial neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/2867" ref="tree=MeSH" title="MedGen record for Carcinoma">Carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/2870" ref="tree=MeSH" title="MedGen record for Basal cell carcinoma">Basal cell carcinoma</a></span><ul><li><span class="matched_ds">Skin basal cell carcinoma</span><ul><li><span class="TLline"><a href="/medgen/227004" ref="tree=MeSH" title="MedGen record for Adamantinoid basal cell epithelioma">Adamantinoid basal cell epithelioma</a></span></li><li><span class="TLline"><a href="/medgen/231371" ref="tree=MeSH" title="MedGen record for Anal margin basal cell carcinoma">Anal margin basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/220984" ref="tree=MeSH" title="MedGen record for Basal cell carcinoma with follicular differentiation">Basal cell carcinoma with follicular differentiation</a></span></li><li><span class="TLline"><a href="/medgen/2841" ref="tree=MeSH" title="MedGen record for Basosquamous carcinoma">Basosquamous carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/234239" ref="tree=MeSH" title="MedGen record for External ear basal cell carcinoma">External ear basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/572964" ref="tree=MeSH" title="MedGen record for Eyelid Basal Cell Carcinoma">Eyelid Basal Cell Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/2554" ref="tree=MeSH" title="MedGen record for Gorlin syndrome">Gorlin syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1054819" ref="tree=MeSH" title="MedGen record for Basal cell nevus syndrome 1">Basal cell nevus syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1841087" ref="tree=MeSH" title="MedGen record for Basal cell nevus syndrome 2">Basal cell nevus syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/79031" ref="tree=MeSH" title="MedGen record for Lip Basal Cell Carcinoma">Lip Basal Cell Carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/83638" ref="tree=MeSH" title="MedGen record for Recurrent Lip Basal Cell Carcinoma">Recurrent Lip Basal Cell Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/277668" ref="tree=MeSH" title="MedGen record for Stage 0 Lip Basal Cell Carcinoma AJCC v6 and v7">Stage 0 Lip Basal Cell Carcinoma AJCC v6 and v7</a></span></li><li><span class="TLline"><a href="/medgen/83632" ref="tree=MeSH" title="MedGen record for Stage I Lip Basal Cell Carcinoma">Stage I Lip Basal Cell Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/83635" ref="tree=MeSH" title="MedGen record for Stage II Lip Basal Cell Carcinoma">Stage II Lip Basal Cell Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/124726" ref="tree=MeSH" title="MedGen record for Stage III Lip Basal Cell Carcinoma">Stage III Lip Basal Cell Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/124728" ref="tree=MeSH" title="MedGen record for Stage IV Lip Basal Cell Carcinoma">Stage IV Lip Basal Cell Carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/277730" ref="tree=MeSH" title="MedGen record for Stage IVA Basal Cell Lip Carcinoma">Stage IVA Basal Cell Lip Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/236921" ref="tree=MeSH" title="MedGen record for Stage IVB Basal Cell Lip Carcinoma">Stage IVB Basal Cell Lip Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/277745" ref="tree=MeSH" title="MedGen record for Stage IVC Basal Cell Lip Carcinoma">Stage IVC Basal Cell Lip Carcinoma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/234567" ref="tree=MeSH" title="MedGen record for Micronodular basal cell carcinoma">Micronodular basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/107825" ref="tree=MeSH" title="MedGen record for Morpheaform basal cell carcinoma">Morpheaform basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/275349" ref="tree=MeSH" title="MedGen record for Penis basal cell carcinoma">Penis basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/275402" ref="tree=MeSH" title="MedGen record for Sarcomatoid basal cell carcinoma">Sarcomatoid basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/233437" ref="tree=MeSH" title="MedGen record for Scrotum basal cell carcinoma">Scrotum basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/276814" ref="tree=MeSH" title="MedGen record for Signet ring basal cell carcinoma">Signet ring basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/266272" ref="tree=MeSH" title="MedGen record for Skin adenoid basal cell carcinoma">Skin adenoid basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/361906" ref="tree=MeSH" title="MedGen record for Skin Basal Cell Carcinoma with Adnexal Differentiation">Skin Basal Cell Carcinoma with Adnexal Differentiation</a></span><ul><li><span class="TLline"><a href="/medgen/363001" ref="tree=MeSH" title="MedGen record for Follicular basal cell carcinoma">Follicular basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/83180" ref="tree=MeSH" title="MedGen record for Sebaceous basal cell carcinoma">Sebaceous basal cell carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/275752" ref="tree=MeSH" title="MedGen record for Skin clear cell basal cell carcinoma">Skin clear cell basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/224810" ref="tree=MeSH" title="MedGen record for Skin cystic basal cell carcinoma">Skin cystic basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/87529" ref="tree=MeSH" title="MedGen record for Skin fibroepithelial basal cell carcinoma">Skin fibroepithelial basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/87201" ref="tree=MeSH" title="MedGen record for Skin infiltrative basal cell carcinoma">Skin infiltrative basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/220985" ref="tree=MeSH" title="MedGen record for Skin Keratotic Basal Cell Carcinoma">Skin Keratotic Basal Cell Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/220986" ref="tree=MeSH" title="MedGen record for Skin Nodular Basal Cell Carcinoma">Skin Nodular Basal Cell Carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/362653" ref="tree=MeSH" title="MedGen record for Skin Nodular Solid Basal Cell Carcinoma">Skin Nodular Solid Basal Cell Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/163677" ref="tree=MeSH" title="MedGen record for Skin Nodulo-Ulcerative Basal Cell Carcinoma">Skin Nodulo-Ulcerative Basal Cell Carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/237149" ref="tree=MeSH" title="MedGen record for Skin pigmented basal cell carcinoma">Skin pigmented basal cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/163678" ref="tree=MeSH" title="MedGen record for Superficial Basal Cell Carcinoma">Superficial Basal Cell Carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/87200" ref="tree=MeSH" title="MedGen record for Superficial multifocal basal cell carcinoma">Superficial multifocal basal cell carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1675367" ref="tree=MeSH" title="MedGen record for Unresectable Skin Basal Cell Carcinoma">Unresectable Skin Basal Cell Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/234481" ref="tree=MeSH" title="MedGen record for Vulva basal cell carcinoma">Vulva basal cell carcinoma</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_2554"><div><strong>Gorlin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2554</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0004779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs), usually from the third decade onward. Many individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in 90% of affected individuals by age 30 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals, respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/2554">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_67398"><div><strong>Metaphyseal chondrodysplasia, McKusick type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67398</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0220748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine, silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/67398">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_78643"><div><strong>Xeroderma pigmentosum group B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78643</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78643">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120612"><div><strong>Xeroderma pigmentosum, group F</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120612</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268140</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120612">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_87539"><div><strong>Follicular atrophoderma and basal cell epitheliomata</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87539</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0346104</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/87539">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_220890"><div><strong>Familial multiple trichoepitheliomata</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220890</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1275122</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appearance of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, membranous basal cell adenoma of the salivary gland. The first tumor typically develops at puberty and tumors progressively accumulate through adulthood. Females often have more tumors than males. Tumors typically arise on the scalp and face but can also arise on the torso and sun-protected sites, such as the genital and axillary skin. A minority of individuals develop salivary gland tumors. Rarely, pulmonary cylindromas can develop in large airways and compromise breathing. Although the tumors are usually benign, malignant transformation is recognized.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/220890">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_231157"><div><strong>Muir-Torré syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>231157</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1321489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/231157">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376352"><div><strong>Xeroderma pigmentosum variant type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376352</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848410</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376352">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_341219"><div><strong>Xeroderma pigmentosum, group E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341219</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/341219">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_347366"><div><strong>SchC6pf-Schulz-Passarge syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347366</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Schopf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive disorder characterized by a constellation of multiple eyelid cysts, hypodontia, hypotrichosis, palmoplantar hyperkeratosis, and onychodystrophy (summary by Mallaiah and Dickinson, 2001).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/347366">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355730"><div><strong>Trichothiodystrophy 1, photosensitive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355730</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866504</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.\n\nTrichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. People with trichothiodystrophy may have abnormal red blood cells, including red blood cells that are smaller than normal. They may also have elevated levels of a type of hemoglobin called A2, which is a protein found in red blood cells. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration of both hips at an early age.\n\nMothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most children with trichothiodystrophy have short stature compared to others their age. \n\nThe signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood.\n\nIn people with trichothiodystrophy, tests show that the hair is lacking sulfur-containing proteins that normally gives hair its strength. A cross section of a cut hair shows alternating light and dark banding that has been described as a "tiger tail."\n\nIntellectual disability and delayed development are common in people with trichothiodystrophy, although most affected individuals are highly social with an outgoing and engaging personality. Some people with trichothiodystrophy have brain abnormalities that can be seen with imaging tests. A common neurological feature of this disorder is impaired myelin production (dysmyelination). Myelin is a fatty substance that insulates nerve cells and promotes the rapid transmission of nerve impulses.\n\nTrichothiodystrophy, commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is hair that is sparse and easily broken. </div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355730">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_356704"><div><strong>Rombo syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356704</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1867147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Rombo syndrome has characteristics of vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, and peripheral vasodilation with cyanosis and basal cell carcinomas. It has been described in four generations of one family and in two additional sporadic cases. The skin lesions become visible between 7 and 10 years of age and are most pronounced on the face. Basal cell carcinomas are frequent and develop at around 35 years of age.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/356704">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_390966"><div><strong>Diamond-Blackfan anemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390966</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/390966">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_414403"><div><strong>Basal cell carcinoma, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414403</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2751544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Cutaneous basal cell carcinoma (BCC) is the most common cancer among people of European ancestry (Stacey et al., 2009). The primary environmental risk factor for BCC is sun exposure, but genetics also has a substantial role. Some of the sequence variants that confer susceptibility seem to operate through their association with fair-pigmentation traits common among Europeans, resulting in reduced protection from the damaging effects of ultraviolet (UV) radiation. Other sequence variants have no obvious role in pigmentation or UV susceptibility but instead seem to operate in the contexts of growth and differentiation of the basal layers of the skin (Stacey et al., 2008; Epstein, 2008; Gudbjartsson et al., 2008; Rafnar et al., 2009). See ASIP (600201), TYR (606933), and SHEP5 (227240) for examples of basal cell carcinoma associated with fair skin or sensitivity to sun. Basal cell carcinoma occurs as a feature of multiple syndromes, including basal cell nevus syndrome (BCNS; 109400), Bazex syndrome (301845), Rombo syndrome (180730), Brooke-Spiegler syndrome (605041), Muir-Torre syndrome (158320), and xeroderma pigmentosum (see 278700). Abnormalities in the Hedgehog signaling pathway are found in basal cell carcinomas; see SHH (600725) and SMOH (601500). Genetic Heterogeneity of Susceptibility to Basal Cell Carcinoma Susceptibility to basal cell carcinoma is a genetically heterogeneous trait. The BCC1 locus maps to chromosome 1p36. Also see BCC2 (613058) on 1q42; BCC3 (613059) on 5p15; BCC4 (613061) on 12q13; BCC5 (613062) on 9p21; and BCC6 (613063) on 7q32. Variation in the 3-prime untranslated region of TP53 (191170) increases susceptibility to basal cell carcinoma (BCC7; 614740). Somatic mutation contributing to the formation of basal cell carcinoma has been identified in the RASA1 (139150), PTCH1 (601309), and PTCH2 (603673) genes.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/414403">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_416702"><div><strong>Xeroderma pigmentosum, group C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416702</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2752147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/416702">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_902388"><div><strong>Familial adenomatous polyposis 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902388</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225157</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">NTHL1 tumor syndrome is characterized by an increased lifetime risk for colorectal cancer (CRC), breast cancer, and colorectal polyposis. Colorectal polyps can be adenomatous, hyperplastic, and/or sessile serrated. Duodenal polyposis has also been reported. Additional cancers reported in individuals with NTHL1 tumor syndrome include endometrial cancer, cervical cancer, urothelial carcinoma of the bladder, meningiomas, unspecified brain tumors, basal cell carcinomas, head and neck squamous cell carcinomas, and hematologic malignancies. The cumulative lifetime risk of developing extracolonic cancer by age 60 years has been estimated at 35% to 78%.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902388">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_907624"><div><strong>Thyroid cancer, nonmedullary, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907624</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225293</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nonmedullary thyroid cancer (NMTC) refers to neoplasms originating from the thyroid follicular cells and represents 80 to 95% of all thyroid cancers. Approximately 5% of NMTC occurs on the background of a familial predisposition. Although papillary thyroid carcinoma (PTC) is usually the most frequent thyroid lesion in NMTC families, multinodular goiter (MNG) and follicular thyroid adenoma also occur (summary by Pereira et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (188550).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/907624">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1646345"><div><strong>Linear nevus sebaceous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646345</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4552097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646345">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648341"><div><strong>Epidermodysplasia verruciformis, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648341</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4722564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">'Typical' or 'classic' epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by increased susceptibility to infection with specific human papillomavirus (HPV) genotypes, usually beta-HPV strains, and to the oncogenic potential of some of them, mainly HPV5 and HPV8. Affected individuals develop disseminated flat wart-like and pityriasis versicolor-like cutaneous lesions in childhood or adolescence. The lesions are highly resistant to treatment. About half of patients with EV develop skin cancer, including cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas, mainly on sun-exposed areas. Individuals with typical or classic EV have no additional immunologic abnormalities (Ramoz et al., 2000; review by Beziat, 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648341">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648390"><div><strong>Epidermodysplasia verruciformis, susceptibility to, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648390</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748876</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epidermodysplasia verruciformis-3 (EV3) is characterized by onset in childhood or early adulthood of persistent disseminated flat warts and pityriasis versicolor-like lesions of the skin that are induced by cutaneous human papillomaviruses (HPVs) of the beta genus. Some patients develop nonmelanoma skin cancer, particularly on areas of the body exposed to the sun. Patients are otherwise healthy and normally resistant to other microorganisms, including other viruses and skintropic pathogens, and even all other cutaneous and mucosal HPVs (de Jong et al., 2018). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648390">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684753"><div><strong>Rothmund-Thomson syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5203410</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rothmund-Thomson syndrome (RTS) is characterized by a rash that progresses to poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental abnormalities; juvenile cataracts; and an increased risk for cancer, especially osteosarcoma. A variety of benign and malignant hematologic abnormalities have been reported in affected individuals. The rash of RTS typically develops between ages three and six months (occasionally as late as age two years) as erythema, swelling, and blistering on the face, subsequently spreading to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, telangiectasias, and punctate atrophy (collectively known as poikiloderma) that persist throughout life. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities can include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684753">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1748029"><div><strong>Mismatch repair cancer syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748029</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5399763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1748029">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823990"><div><strong>Dyskeratosis congenita, digenic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823990</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774217</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Digenic dyskeratosis congenita (DKCD) is characterized clinically by a combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia. Some patients may have evidence of bone marrow failure, manifest as immune defects such as recurrent infections or hypogammaglobulinemia. Telomeres are shortened in patient cells. Individuals with DKCD may show severe adverse reactions to treatment with 5-FU (Tummala et al., 2022). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823990">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841087"><div><strong>Basal cell nevus syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841087</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002). For a discussion of genetic heterogeneity of BCNS, see BCNS1 (109400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841087">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Basal cell carcinoma, susceptibility to, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Basal cell nevus syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823990" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, digenic</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648341" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermodysplasia verruciformis, susceptibility to, 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (24)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermodysplasia verruciformis, susceptibility to, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial adenomatous polyposis 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial multiple trichoepitheliomata</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Follicular atrophoderma and basal cell epitheliomata</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gorlin syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646345" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear nevus sebaceous syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_67398" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, McKusick type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1748029" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mismatch repair cancer syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_231157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muir-Torré syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rombo syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rothmund-Thomson syndrome type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SchC6pf-Schulz-Passarge syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_907624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thyroid cancer, nonmedullary, 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichothiodystrophy 1, photosensitive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum group B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum variant type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416702" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum, group C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341219" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum, group E</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120612" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum, group F</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25631853">The risk of transmitting cutaneous malignancy through skin transplantation: a literature-based risk assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bosma S,
|
||
Van Wijk MJ,
|
||
Richters CD,
|
||
Beele H</span><br />
|
||
<span class="medgenPMjournal">Cell Tissue Bank</span>
|
||
2015 Dec;16(4):503-12.
|
||
Epub 2015 Jan 29
|
||
doi: 10.1007/s10561-015-9497-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25631853" target="_blank">25631853</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23599819">Photodynamic therapy in the treatment of basal cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matei C,
|
||
Tampa M,
|
||
Poteca T,
|
||
Panea-Paunica G,
|
||
Georgescu SR,
|
||
Ion RM,
|
||
Popescu SM,
|
||
Giurcaneanu C</span><br />
|
||
<span class="medgenPMjournal">J Med Life</span>
|
||
2013 Mar 15;6(1):50-4.
|
||
Epub 2013 Mar 25
|
||
<span class="bold">PMID: </span><a href="/pubmed/23599819" target="_blank">23599819</a><a href="/pmc/articles/PMC3624646" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16033084">Diagnosis, treatment and follow-up control in 124 patients with basal cell carcinoma of the maxillofacial region treated from 1992 to 1997.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedrich RE,
|
||
Giese M,
|
||
Li L,
|
||
Schenk Y,
|
||
Schmelzle R</span><br />
|
||
<span class="medgenPMjournal">Anticancer Res</span>
|
||
2005 May-Jun;25(3A):1693-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16033084" target="_blank">16033084</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22skin%20basal%20cell%20carcinoma%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (6)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nccn.org/professionals/physician_gls/pdf/nmsc.pdf" target="_blank">NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Basal Cell Skin Cancer, 2023</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35886018">TGF-β/VEGF-A Genetic Variants Interplay in Genetic Susceptibility to Non-Melanocytic Skin Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scola L,
|
||
Bongiorno MR,
|
||
Forte GI,
|
||
Aiello A,
|
||
Accardi G,
|
||
Scrimali C,
|
||
Spina R,
|
||
Lio D,
|
||
Candore G</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Jul 13;13(7)
|
||
doi: 10.3390/genes13071235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35886018" target="_blank">35886018</a><a href="/pmc/articles/PMC9317818" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32062047">Topical 5-aminolevulinic acid-mediated photodynamic therapy for basal cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filonenko E,
|
||
Kaprin A,
|
||
Urlova A,
|
||
Grigorievykh N,
|
||
Ivanova-Radkevich V</span><br />
|
||
<span class="medgenPMjournal">Photodiagnosis Photodyn Ther</span>
|
||
2020 Jun;30:101644.
|
||
Epub 2020 Feb 13
|
||
doi: 10.1016/j.pdpdt.2019.101644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32062047" target="_blank">32062047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24203628">Sonic hedgehog pathway dysregulation in skin basal-cell carcinoma of a Polish population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lesiak A,
|
||
Sobolewska-Sztychny D,
|
||
Danilewicz M,
|
||
Rogowski-Tylman M,
|
||
Sysa-Jedrzejowska A,
|
||
Sobjanek M,
|
||
Olejniczak-Staruch I,
|
||
Narbutt J</span><br />
|
||
<span class="medgenPMjournal">Folia Histochem Cytobiol</span>
|
||
2013;51(3):219-24.
|
||
doi: 10.5603/FHC.2013.0031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24203628" target="_blank">24203628</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20051370">Basal cell carcinoma chemoprevention with nonsteroidal anti-inflammatory drugs in genetically predisposed PTCH1+/- humans and mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang JY,
|
||
Aszterbaum M,
|
||
Athar M,
|
||
Barsanti F,
|
||
Cappola C,
|
||
Estevez N,
|
||
Hebert J,
|
||
Hwang J,
|
||
Khaimskiy Y,
|
||
Kim A,
|
||
Lu Y,
|
||
So PL,
|
||
Tang X,
|
||
Kohn MA,
|
||
McCulloch CE,
|
||
Kopelovich L,
|
||
Bickers DR,
|
||
Epstein EH Jr</span><br />
|
||
<span class="medgenPMjournal">Cancer Prev Res (Phila)</span>
|
||
2010 Jan;3(1):25-34.
|
||
doi: 10.1158/1940-6207.CAPR-09-0200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20051370" target="_blank">20051370</a><a href="/pmc/articles/PMC2894531" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16033084">Diagnosis, treatment and follow-up control in 124 patients with basal cell carcinoma of the maxillofacial region treated from 1992 to 1997.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedrich RE,
|
||
Giese M,
|
||
Li L,
|
||
Schenk Y,
|
||
Schmelzle R</span><br />
|
||
<span class="medgenPMjournal">Anticancer Res</span>
|
||
2005 May-Jun;25(3A):1693-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16033084" target="_blank">16033084</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Skin%20basal%20cell%20carcinoma%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (12)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35886018">TGF-β/VEGF-A Genetic Variants Interplay in Genetic Susceptibility to Non-Melanocytic Skin Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scola L,
|
||
Bongiorno MR,
|
||
Forte GI,
|
||
Aiello A,
|
||
Accardi G,
|
||
Scrimali C,
|
||
Spina R,
|
||
Lio D,
|
||
Candore G</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Jul 13;13(7)
|
||
doi: 10.3390/genes13071235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35886018" target="_blank">35886018</a><a href="/pmc/articles/PMC9317818" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29790600">Characterizing the tissue dielectric constant of skin basal cell cancer lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayrovitz HN,
|
||
Gildenberg SR,
|
||
Spagna P,
|
||
Killpack L,
|
||
Altman DA</span><br />
|
||
<span class="medgenPMjournal">Skin Res Technol</span>
|
||
2018 Nov;24(4):686-691.
|
||
Epub 2018 May 23
|
||
doi: 10.1111/srt.12585.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29790600" target="_blank">29790600</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27533646">BASAL CELL NEVUS SYNDROME PRESENTING AS EPIRETINAL MEMBRANE AND MYELINATED NERVE FIBER LAYER.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farley ND,
|
||
Sassalos TM,
|
||
Ober MD</span><br />
|
||
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
|
||
2017 Winter;11 Suppl 1:S151-S154.
|
||
doi: 10.1097/ICB.0000000000000388.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27533646" target="_blank">27533646</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20859866">Skin basal cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson LD</span><br />
|
||
<span class="medgenPMjournal">Ear Nose Throat J</span>
|
||
2010 Sep;89(9):418-20.
|
||
doi: 10.1177/014556131008900909.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20859866" target="_blank">20859866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16033084">Diagnosis, treatment and follow-up control in 124 patients with basal cell carcinoma of the maxillofacial region treated from 1992 to 1997.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedrich RE,
|
||
Giese M,
|
||
Li L,
|
||
Schenk Y,
|
||
Schmelzle R</span><br />
|
||
<span class="medgenPMjournal">Anticancer Res</span>
|
||
2005 May-Jun;25(3A):1693-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16033084" target="_blank">16033084</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Skin%20basal%20cell%20carcinoma%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32062047">Topical 5-aminolevulinic acid-mediated photodynamic therapy for basal cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filonenko E,
|
||
Kaprin A,
|
||
Urlova A,
|
||
Grigorievykh N,
|
||
Ivanova-Radkevich V</span><br />
|
||
<span class="medgenPMjournal">Photodiagnosis Photodyn Ther</span>
|
||
2020 Jun;30:101644.
|
||
Epub 2020 Feb 13
|
||
doi: 10.1016/j.pdpdt.2019.101644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32062047" target="_blank">32062047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26950094">Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonilla X,
|
||
Parmentier L,
|
||
King B,
|
||
Bezrukov F,
|
||
Kaya G,
|
||
Zoete V,
|
||
Seplyarskiy VB,
|
||
Sharpe HJ,
|
||
McKee T,
|
||
Letourneau A,
|
||
Ribaux PG,
|
||
Popadin K,
|
||
Basset-Seguin N,
|
||
Ben Chaabene R,
|
||
Santoni FA,
|
||
Andrianova MA,
|
||
Guipponi M,
|
||
Garieri M,
|
||
Verdan C,
|
||
Grosdemange K,
|
||
Sumara O,
|
||
Eilers M,
|
||
Aifantis I,
|
||
Michielin O,
|
||
de Sauvage FJ,
|
||
Antonarakis SE,
|
||
Nikolaev SI</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2016 Apr;48(4):398-406.
|
||
Epub 2016 Mar 7
|
||
doi: 10.1038/ng.3525.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26950094" target="_blank">26950094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23599819">Photodynamic therapy in the treatment of basal cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matei C,
|
||
Tampa M,
|
||
Poteca T,
|
||
Panea-Paunica G,
|
||
Georgescu SR,
|
||
Ion RM,
|
||
Popescu SM,
|
||
Giurcaneanu C</span><br />
|
||
<span class="medgenPMjournal">J Med Life</span>
|
||
2013 Mar 15;6(1):50-4.
|
||
Epub 2013 Mar 25
|
||
<span class="bold">PMID: </span><a href="/pubmed/23599819" target="_blank">23599819</a><a href="/pmc/articles/PMC3624646" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21614026">The Hedgehog's tale: developing strategies for targeting cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng JM,
|
||
Curran T</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Cancer</span>
|
||
2011 May 26;11(7):493-501.
|
||
doi: 10.1038/nrc3079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21614026" target="_blank">21614026</a><a href="/pmc/articles/PMC3576812" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20859866">Skin basal cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson LD</span><br />
|
||
<span class="medgenPMjournal">Ear Nose Throat J</span>
|
||
2010 Sep;89(9):418-20.
|
||
doi: 10.1177/014556131008900909.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20859866" target="_blank">20859866</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Skin%20basal%20cell%20carcinoma%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (16)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33560745">Primary Ovarian Melanoma Arising From a Mature Teratoma With Melanoma In Situ Present in the Ciliated Columnar and Squamous Epithelium in a Patient With Synchronous Skin Basal Cell Carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lai J,
|
||
Garvey KY,
|
||
Li P,
|
||
Azevedo RA</span><br />
|
||
<span class="medgenPMjournal">Int J Gynecol Pathol</span>
|
||
2021 Jul 1;40(4):383-390.
|
||
doi: 10.1097/PGP.0000000000000727.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33560745" target="_blank">33560745</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23939626">Mortality and cancer in pediatric-onset inflammatory bowel disease: a population-based study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peneau A,
|
||
Savoye G,
|
||
Turck D,
|
||
Dauchet L,
|
||
Fumery M,
|
||
Salleron J,
|
||
Lerebours E,
|
||
Ligier K,
|
||
Vasseur F,
|
||
Dupas JL,
|
||
Mouterde O,
|
||
Spyckerelle C,
|
||
Djeddi D,
|
||
Peyrin-Biroulet L,
|
||
Colombel JF,
|
||
Gower-Rousseau C</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2013 Oct;108(10):1647-53.
|
||
Epub 2013 Aug 13
|
||
doi: 10.1038/ajg.2013.242.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23939626" target="_blank">23939626</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21357377">No association between telomere length in peripheral blood leukocytes and the risk of nonmelanoma skin cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liang G,
|
||
Qureshi AA,
|
||
Guo Q,
|
||
De Vivo I,
|
||
Han J</span><br />
|
||
<span class="medgenPMjournal">Cancer Epidemiol Biomarkers Prev</span>
|
||
2011 May;20(5):1043-5.
|
||
Epub 2011 Feb 25
|
||
doi: 10.1158/1055-9965.EPI-11-0072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21357377" target="_blank">21357377</a><a href="/pmc/articles/PMC3089713" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16033084">Diagnosis, treatment and follow-up control in 124 patients with basal cell carcinoma of the maxillofacial region treated from 1992 to 1997.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedrich RE,
|
||
Giese M,
|
||
Li L,
|
||
Schenk Y,
|
||
Schmelzle R</span><br />
|
||
<span class="medgenPMjournal">Anticancer Res</span>
|
||
2005 May-Jun;25(3A):1693-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16033084" target="_blank">16033084</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15297396">Imiquimod treatment induces expression of opioid growth factor receptor: a novel tumor antigen induced by interferon-alpha?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Urosevic M,
|
||
Oberholzer PA,
|
||
Maier T,
|
||
Hafner J,
|
||
Laine E,
|
||
Slade H,
|
||
Benninghoff B,
|
||
Burg G,
|
||
Dummer R</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2004 Aug 1;10(15):4959-70.
|
||
doi: 10.1158/1078-0432.CCR-04-0193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15297396" target="_blank">15297396</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Skin%20basal%20cell%20carcinoma%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28358759">Salvage of a Necrotic Flap.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jung JH,
|
||
Kim ST,
|
||
An SH,
|
||
Moon KH,
|
||
Park HM,
|
||
Kang IG</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2017 Jul;28(5):e415-e416.
|
||
doi: 10.1097/SCS.0000000000003584.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28358759" target="_blank">28358759</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27533646">BASAL CELL NEVUS SYNDROME PRESENTING AS EPIRETINAL MEMBRANE AND MYELINATED NERVE FIBER LAYER.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farley ND,
|
||
Sassalos TM,
|
||
Ober MD</span><br />
|
||
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
|
||
2017 Winter;11 Suppl 1:S151-S154.
|
||
doi: 10.1097/ICB.0000000000000388.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27533646" target="_blank">27533646</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26950094">Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonilla X,
|
||
Parmentier L,
|
||
King B,
|
||
Bezrukov F,
|
||
Kaya G,
|
||
Zoete V,
|
||
Seplyarskiy VB,
|
||
Sharpe HJ,
|
||
McKee T,
|
||
Letourneau A,
|
||
Ribaux PG,
|
||
Popadin K,
|
||
Basset-Seguin N,
|
||
Ben Chaabene R,
|
||
Santoni FA,
|
||
Andrianova MA,
|
||
Guipponi M,
|
||
Garieri M,
|
||
Verdan C,
|
||
Grosdemange K,
|
||
Sumara O,
|
||
Eilers M,
|
||
Aifantis I,
|
||
Michielin O,
|
||
de Sauvage FJ,
|
||
Antonarakis SE,
|
||
Nikolaev SI</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2016 Apr;48(4):398-406.
|
||
Epub 2016 Mar 7
|
||
doi: 10.1038/ng.3525.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26950094" target="_blank">26950094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24203628">Sonic hedgehog pathway dysregulation in skin basal-cell carcinoma of a Polish population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lesiak A,
|
||
Sobolewska-Sztychny D,
|
||
Danilewicz M,
|
||
Rogowski-Tylman M,
|
||
Sysa-Jedrzejowska A,
|
||
Sobjanek M,
|
||
Olejniczak-Staruch I,
|
||
Narbutt J</span><br />
|
||
<span class="medgenPMjournal">Folia Histochem Cytobiol</span>
|
||
2013;51(3):219-24.
|
||
doi: 10.5603/FHC.2013.0031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24203628" target="_blank">24203628</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9178800">Dysregulated expression of transforming growth factor beta and its type-I and type-II receptors in basal-cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Furue M,
|
||
Kato M,
|
||
Nakamura K,
|
||
Nashiro K,
|
||
Kikuchi K,
|
||
Okochi H,
|
||
Miyazono K,
|
||
Tamaki K</span><br />
|
||
<span class="medgenPMjournal">Int J Cancer</span>
|
||
1997 May 16;71(4):505-9.
|
||
doi: 10.1002/(sici)1097-0215(19970516)71:4<505::aid-ijc1>3.0.co;2-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9178800" target="_blank">9178800</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Skin%20basal%20cell%20carcinoma%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div></div>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22skin%20basal%20cell%20carcinoma%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Skin%20basal%20cell%20carcinoma%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nccn.org/professionals/physician_gls/pdf/nmsc.pdf">NCCN, 2023</a><div>NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Basal Cell Skin Cancer, 2023</div></li></ul></div>
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