Familial clustering of giant congenital melanocytic nevi
Summary Giant congenital melanocytic nevus (GCMN) is an infrequently occurring congenital malformation. GCMN generally occurs in isolation but rare familial occurrence points to a genetic background. We present two cases of familial GCMN: one with two affected siblings and another with two affected...
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| Veröffentlicht in: | Journal of plastic, reconstructive & aesthetic surgery reconstructive & aesthetic surgery, 2010-06, Vol.63 (6), p.906-913 |
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| creator | de Wijn, Robert S Zaal, Laura H Hennekam, Raoul C.M van der Horst, Chantal M.A.M |
| description | Summary Giant congenital melanocytic nevus (GCMN) is an infrequently occurring congenital malformation. GCMN generally occurs in isolation but rare familial occurrence points to a genetic background. We present two cases of familial GCMN: one with two affected siblings and another with two affected double second cousins. Familial occurrence of GCMN reported in literature is reviewed and an overview of the embryology and proliferation given, illustrating the plethora of factors that might lead to GCMN formation. The pattern of inheritance is likely not Mendelian and discordance in identical twins and the segmental distribution of lesions suggest a post-zygotic mutation. A polygenic paradominant inheritance best explains the clinically observed transmission pattern. Candidate genes include those influencing neural crest development and melanocyte proliferation. |
| doi_str_mv | 10.1016/j.bjps.2009.02.090 |
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GCMN generally occurs in isolation but rare familial occurrence points to a genetic background. We present two cases of familial GCMN: one with two affected siblings and another with two affected double second cousins. Familial occurrence of GCMN reported in literature is reviewed and an overview of the embryology and proliferation given, illustrating the plethora of factors that might lead to GCMN formation. The pattern of inheritance is likely not Mendelian and discordance in identical twins and the segmental distribution of lesions suggest a post-zygotic mutation. A polygenic paradominant inheritance best explains the clinically observed transmission pattern. Candidate genes include those influencing neural crest development and melanocyte proliferation.</description><identifier>ISSN: 1748-6815</identifier><identifier>EISSN: 1878-0539</identifier><identifier>DOI: 10.1016/j.bjps.2009.02.090</identifier><identifier>PMID: 19464972</identifier><language>eng</language><publisher>Kidlington: Elsevier Ltd</publisher><subject>Biological and medical sciences ; Cluster Analysis ; Dermatology ; Familial ; Female ; Giant congenital melanocytic nevus (GCMN) ; Humans ; Infant, Newborn ; Inheritance ; LCMN ; Medical sciences ; Melanogenesis ; Nevus pathogenesis ; Nevus, Pigmented - congenital ; Nevus, Pigmented - genetics ; Nevus, Pigmented - pathology ; Plastic Surgery ; Skin Neoplasms - congenital ; Skin Neoplasms - genetics ; Skin Neoplasms - pathology ; Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases ; Tumors of the skin and soft tissue. Premalignant lesions</subject><ispartof>Journal of plastic, reconstructive & aesthetic surgery, 2010-06, Vol.63 (6), p.906-913</ispartof><rights>British Association of Plastic, Reconstructive and Aesthetic Surgeons</rights><rights>2009 British Association of Plastic, Reconstructive and Aesthetic Surgeons</rights><rights>2015 INIST-CNRS</rights><rights>Copyright 2009 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c440t-8d69c089a21806b550d16d7a74891eb37c9729d919cacee27ad26130942959203</citedby><cites>FETCH-LOGICAL-c440t-8d69c089a21806b550d16d7a74891eb37c9729d919cacee27ad26130942959203</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.bjps.2009.02.090$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=22835889$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19464972$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>de Wijn, Robert S</creatorcontrib><creatorcontrib>Zaal, Laura H</creatorcontrib><creatorcontrib>Hennekam, Raoul C.M</creatorcontrib><creatorcontrib>van der Horst, Chantal M.A.M</creatorcontrib><title>Familial clustering of giant congenital melanocytic nevi</title><title>Journal of plastic, reconstructive & aesthetic surgery</title><addtitle>J Plast Reconstr Aesthet Surg</addtitle><description>Summary Giant congenital melanocytic nevus (GCMN) is an infrequently occurring congenital malformation. GCMN generally occurs in isolation but rare familial occurrence points to a genetic background. We present two cases of familial GCMN: one with two affected siblings and another with two affected double second cousins. Familial occurrence of GCMN reported in literature is reviewed and an overview of the embryology and proliferation given, illustrating the plethora of factors that might lead to GCMN formation. The pattern of inheritance is likely not Mendelian and discordance in identical twins and the segmental distribution of lesions suggest a post-zygotic mutation. A polygenic paradominant inheritance best explains the clinically observed transmission pattern. Candidate genes include those influencing neural crest development and melanocyte proliferation.</description><subject>Biological and medical sciences</subject><subject>Cluster Analysis</subject><subject>Dermatology</subject><subject>Familial</subject><subject>Female</subject><subject>Giant congenital melanocytic nevus (GCMN)</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Inheritance</subject><subject>LCMN</subject><subject>Medical sciences</subject><subject>Melanogenesis</subject><subject>Nevus pathogenesis</subject><subject>Nevus, Pigmented - congenital</subject><subject>Nevus, Pigmented - genetics</subject><subject>Nevus, Pigmented - pathology</subject><subject>Plastic Surgery</subject><subject>Skin Neoplasms - congenital</subject><subject>Skin Neoplasms - genetics</subject><subject>Skin Neoplasms - pathology</subject><subject>Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases</subject><subject>Tumors of the skin and soft tissue. Premalignant lesions</subject><issn>1748-6815</issn><issn>1878-0539</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kUGL1DAUx4Mo7rr6BTxIL-Kp9SVpmgREkMVVYcGDeg6Z1zdDapuOSbsw396UGRQ8eEogv__Ln99j7CWHhgPv3g7NbjjmRgDYBkQDFh6xa260qUFJ-7jcdWvqznB1xZ7lPAC0krfqKbvitu1aq8U1M3d-CmPwY4XjmhdKIR6qeV8dgo9LhXM8UAxLeZ5o9HHG0xKwivQQnrMnez9menE5b9iPu4_fbz_X918_fbn9cF9j28JSm76zCMZ6wQ10O6Wg512vfWlmOe2kxlLD9pZb9EgktO9FxyXYVlhlBcgb9uY895jmXyvlxU0hI42lDc1rdlpKobTSupDiTGKac060d8cUJp9OjoPbhLnBbcLcJsyBcEVYCb26jF93E_V_IxdDBXh9AXxGP-6TjxjyH04II5UxtnDvzhwVGQ-BkssYKCL1IREurp_D_3u8_yeOY4ih_PiTTpSHeU2xaHbc5RJw37bVbpstWRBWd_I3N3Kciw</recordid><startdate>20100601</startdate><enddate>20100601</enddate><creator>de Wijn, Robert S</creator><creator>Zaal, Laura H</creator><creator>Hennekam, Raoul C.M</creator><creator>van der Horst, Chantal M.A.M</creator><general>Elsevier Ltd</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20100601</creationdate><title>Familial clustering of giant congenital melanocytic nevi</title><author>de Wijn, Robert S ; Zaal, Laura H ; Hennekam, Raoul C.M ; van der Horst, Chantal M.A.M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c440t-8d69c089a21806b550d16d7a74891eb37c9729d919cacee27ad26130942959203</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Biological and medical sciences</topic><topic>Cluster Analysis</topic><topic>Dermatology</topic><topic>Familial</topic><topic>Female</topic><topic>Giant congenital melanocytic nevus (GCMN)</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Inheritance</topic><topic>LCMN</topic><topic>Medical sciences</topic><topic>Melanogenesis</topic><topic>Nevus pathogenesis</topic><topic>Nevus, Pigmented - congenital</topic><topic>Nevus, Pigmented - genetics</topic><topic>Nevus, Pigmented - pathology</topic><topic>Plastic Surgery</topic><topic>Skin Neoplasms - congenital</topic><topic>Skin Neoplasms - genetics</topic><topic>Skin Neoplasms - pathology</topic><topic>Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases</topic><topic>Tumors of the skin and soft tissue. Premalignant lesions</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>de Wijn, Robert S</creatorcontrib><creatorcontrib>Zaal, Laura H</creatorcontrib><creatorcontrib>Hennekam, Raoul C.M</creatorcontrib><creatorcontrib>van der Horst, Chantal M.A.M</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of plastic, reconstructive & aesthetic surgery</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>de Wijn, Robert S</au><au>Zaal, Laura H</au><au>Hennekam, Raoul C.M</au><au>van der Horst, Chantal M.A.M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Familial clustering of giant congenital melanocytic nevi</atitle><jtitle>Journal of plastic, reconstructive & aesthetic surgery</jtitle><addtitle>J Plast Reconstr Aesthet Surg</addtitle><date>2010-06-01</date><risdate>2010</risdate><volume>63</volume><issue>6</issue><spage>906</spage><epage>913</epage><pages>906-913</pages><issn>1748-6815</issn><eissn>1878-0539</eissn><abstract>Summary Giant congenital melanocytic nevus (GCMN) is an infrequently occurring congenital malformation. GCMN generally occurs in isolation but rare familial occurrence points to a genetic background. We present two cases of familial GCMN: one with two affected siblings and another with two affected double second cousins. Familial occurrence of GCMN reported in literature is reviewed and an overview of the embryology and proliferation given, illustrating the plethora of factors that might lead to GCMN formation. The pattern of inheritance is likely not Mendelian and discordance in identical twins and the segmental distribution of lesions suggest a post-zygotic mutation. A polygenic paradominant inheritance best explains the clinically observed transmission pattern. Candidate genes include those influencing neural crest development and melanocyte proliferation.</abstract><cop>Kidlington</cop><pub>Elsevier Ltd</pub><pmid>19464972</pmid><doi>10.1016/j.bjps.2009.02.090</doi><tpages>8</tpages></addata></record> |
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| subjects | Biological and medical sciences Cluster Analysis Dermatology Familial Female Giant congenital melanocytic nevus (GCMN) Humans Infant, Newborn Inheritance LCMN Medical sciences Melanogenesis Nevus pathogenesis Nevus, Pigmented - congenital Nevus, Pigmented - genetics Nevus, Pigmented - pathology Plastic Surgery Skin Neoplasms - congenital Skin Neoplasms - genetics Skin Neoplasms - pathology Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases Tumors of the skin and soft tissue. Premalignant lesions |
| title | Familial clustering of giant congenital melanocytic nevi |
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