What is segmental neurofibromatosis?
Summary Two unrelated children with von Recklinghausen's neurofibromatosis (NF1) had mothers with cutaneous NF1 lesions in a limited distribution. The cutaneous pattern in the mother of case 1 was clearly segmental, and probably represents mosaicism for the NF1 mutation which was passed on to t...
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| Veröffentlicht in: | British journal of dermatology (1951) 1994-01, Vol.130 (1), p.106-110 |
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| container_title | British journal of dermatology (1951) |
| container_volume | 130 |
| creator | MOSS, C. GREEN, S.H. |
| description | Summary
Two unrelated children with von Recklinghausen's neurofibromatosis (NF1) had mothers with cutaneous NF1 lesions in a limited distribution. The cutaneous pattern in the mother of case 1 was clearly segmental, and probably represents mosaicism for the NF1 mutation which was passed on to the child. In the second case the distribution in the mother was less obviously segmental, but may still represent mosaicism. It is more difficult to diagnose mosaicism for NF1 in individuals with no affected offspring, or with more limited cutaneous manifestations. The difficulties in defining segmental NF and assigning a genetic risk are discussed. |
| doi_str_mv | 10.1111/j.1365-2133.1994.tb06893.x |
| format | Article |
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Two unrelated children with von Recklinghausen's neurofibromatosis (NF1) had mothers with cutaneous NF1 lesions in a limited distribution. The cutaneous pattern in the mother of case 1 was clearly segmental, and probably represents mosaicism for the NF1 mutation which was passed on to the child. In the second case the distribution in the mother was less obviously segmental, but may still represent mosaicism. It is more difficult to diagnose mosaicism for NF1 in individuals with no affected offspring, or with more limited cutaneous manifestations. The difficulties in defining segmental NF and assigning a genetic risk are discussed.</description><identifier>ISSN: 0007-0963</identifier><identifier>EISSN: 1365-2133</identifier><identifier>DOI: 10.1111/j.1365-2133.1994.tb06893.x</identifier><identifier>PMID: 8305298</identifier><identifier>CODEN: BJDEAZ</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Biological and medical sciences ; Child ; Female ; Humans ; Male ; Medical sciences ; Mosaicism - genetics ; Neurofibromatosis 1 - genetics ; Neurofibromatosis 1 - pathology ; Neurology ; Risk Factors ; Skin - pathology ; Skin Neoplasms - genetics ; Skin Neoplasms - pathology ; Tumors of the nervous system. Phacomatoses</subject><ispartof>British journal of dermatology (1951), 1994-01, Vol.130 (1), p.106-110</ispartof><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3986-191e340f7a057e75772698b42aba57e558393784e81d11b2a7e8adc34a4681bb3</citedby><cites>FETCH-LOGICAL-c3986-191e340f7a057e75772698b42aba57e558393784e81d11b2a7e8adc34a4681bb3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1365-2133.1994.tb06893.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1365-2133.1994.tb06893.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,4010,27900,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3879361$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8305298$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>MOSS, C.</creatorcontrib><creatorcontrib>GREEN, S.H.</creatorcontrib><title>What is segmental neurofibromatosis?</title><title>British journal of dermatology (1951)</title><addtitle>Br J Dermatol</addtitle><description>Summary
Two unrelated children with von Recklinghausen's neurofibromatosis (NF1) had mothers with cutaneous NF1 lesions in a limited distribution. The cutaneous pattern in the mother of case 1 was clearly segmental, and probably represents mosaicism for the NF1 mutation which was passed on to the child. In the second case the distribution in the mother was less obviously segmental, but may still represent mosaicism. It is more difficult to diagnose mosaicism for NF1 in individuals with no affected offspring, or with more limited cutaneous manifestations. The difficulties in defining segmental NF and assigning a genetic risk are discussed.</description><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Female</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mosaicism - genetics</subject><subject>Neurofibromatosis 1 - genetics</subject><subject>Neurofibromatosis 1 - pathology</subject><subject>Neurology</subject><subject>Risk Factors</subject><subject>Skin - pathology</subject><subject>Skin Neoplasms - genetics</subject><subject>Skin Neoplasms - pathology</subject><subject>Tumors of the nervous system. Phacomatoses</subject><issn>0007-0963</issn><issn>1365-2133</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVkFtLwzAYhoMoc05_gjBEvGtN-jUnLxSdZwbeKF6GpEu1o4eZtLj9e1NWdm9uPsj7fAcehM4Ijkl4l8uYAKNRQgBiImUatwYzISFe76HxLtpHY4wxj7BkcIiOvF9iTABTPEIjEWoixRidf37rdlr4qbdfla1bXU5r27kmL4xrKt02vvA3x-gg16W3J0OdoI_Hh_fZczR_e3qZ3c6jDKRgEZHEQopzrjHlllPOEyaFSRNtdPigVIAELlIryIIQk2huhV5kkOqUCWIMTNDFdu7KNT-d9a2qCp_ZstS1bTqvOINAYhrAqy2YucZ7Z3O1ckWl3UYRrHpFaql6D6r3oHpFalCk1qH5dNjSmcoudq2Dk5CfD7n2mS5zp-us8DsMBJfASMCut9hvUdrNPw5Qd6_3BDP4A4GDgPQ</recordid><startdate>199401</startdate><enddate>199401</enddate><creator>MOSS, C.</creator><creator>GREEN, S.H.</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</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>199401</creationdate><title>What is segmental neurofibromatosis?</title><author>MOSS, C. ; GREEN, S.H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3986-191e340f7a057e75772698b42aba57e558393784e81d11b2a7e8adc34a4681bb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Female</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mosaicism - genetics</topic><topic>Neurofibromatosis 1 - genetics</topic><topic>Neurofibromatosis 1 - pathology</topic><topic>Neurology</topic><topic>Risk Factors</topic><topic>Skin - pathology</topic><topic>Skin Neoplasms - genetics</topic><topic>Skin Neoplasms - pathology</topic><topic>Tumors of the nervous system. Phacomatoses</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>MOSS, C.</creatorcontrib><creatorcontrib>GREEN, S.H.</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>British journal of dermatology (1951)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>MOSS, C.</au><au>GREEN, S.H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>What is segmental neurofibromatosis?</atitle><jtitle>British journal of dermatology (1951)</jtitle><addtitle>Br J Dermatol</addtitle><date>1994-01</date><risdate>1994</risdate><volume>130</volume><issue>1</issue><spage>106</spage><epage>110</epage><pages>106-110</pages><issn>0007-0963</issn><eissn>1365-2133</eissn><coden>BJDEAZ</coden><abstract>Summary
Two unrelated children with von Recklinghausen's neurofibromatosis (NF1) had mothers with cutaneous NF1 lesions in a limited distribution. The cutaneous pattern in the mother of case 1 was clearly segmental, and probably represents mosaicism for the NF1 mutation which was passed on to the child. In the second case the distribution in the mother was less obviously segmental, but may still represent mosaicism. It is more difficult to diagnose mosaicism for NF1 in individuals with no affected offspring, or with more limited cutaneous manifestations. The difficulties in defining segmental NF and assigning a genetic risk are discussed.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>8305298</pmid><doi>10.1111/j.1365-2133.1994.tb06893.x</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0007-0963 |
| ispartof | British journal of dermatology (1951), 1994-01, Vol.130 (1), p.106-110 |
| issn | 0007-0963 1365-2133 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_76346805 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Biological and medical sciences Child Female Humans Male Medical sciences Mosaicism - genetics Neurofibromatosis 1 - genetics Neurofibromatosis 1 - pathology Neurology Risk Factors Skin - pathology Skin Neoplasms - genetics Skin Neoplasms - pathology Tumors of the nervous system. Phacomatoses |
| title | What is segmental neurofibromatosis? |
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