{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T19:58:14Z","timestamp":1759694294828,"version":"3.40.4"},"reference-count":0,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatology"],"published-print":{"date-parts":[[2002]]},"abstract":"<jats:p>Segmental neurofibromatosis is characterised by a limited, segmental distribution of cutaneous neurofibromatosis type 1 (NF1) lesions. It has been suggested that segmental NF results from a postzygotic &lt;i&gt;NF1&lt;\/i&gt; gene mutation, and, recently, this hypothesis has been proven in a patient with regionally distributed caf\u00e9-au-lait (CAL) spots and freckles by demonstrating an &lt;i&gt;NF1&lt;\/i&gt; microdeletion restricted to fibroblasts cultured from CAL spots. We describe here a patient with segmental NF in which we could not demonstrate any &lt;i&gt;NF1&lt;\/i&gt; gene mutation in fibroblasts cultured from neurofibromas by use of the protein truncation test, enzymatic mutation detection and fluorescence in situ hybridisation. These data are in line with the concept that &lt;i&gt;NF1&lt;\/i&gt; mutations in Schwann cells, but not in fibroblasts, correlate with neurofibroma formation.<\/jats:p>","DOI":"10.1159\/000063363","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T21:05:17Z","timestamp":1050440717000},"page":"296-297","source":"Crossref","is-referenced-by-count":20,"title":["Segmental Neurofibromatosis"],"prefix":"10.1159","volume":"204","author":[{"given":"Erwin S.","family":"Schultz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter","family":"Kaufmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigrid","family":"Tinschert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hermann","family":"Schell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"von den Driesch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerold","family":"Schuler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2002,6,21]]},"container-title":["Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/63363","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/63363","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:08:09Z","timestamp":1745467689000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000063363"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2002,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000063363","archive":["Portico"],"relation":{},"ISSN":["1018-8665","1421-9832"],"issn-type":[{"type":"print","value":"1018-8665"},{"type":"electronic","value":"1421-9832"}],"subject":[],"published":{"date-parts":[[2002]]}}}