{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:18:09Z","timestamp":1763036289343,"version":"build-2065373602"},"reference-count":40,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2008,3,1]],"date-time":"2008-03-01T00:00:00Z","timestamp":1204329600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,3,1]],"date-time":"2008-03-01T00:00:00Z","timestamp":1204329600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jaad.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the American Academy of Dermatology"],"published-print":{"date-parts":[[2008,3]]},"DOI":"10.1016\/j.jaad.2007.03.013","type":"journal-article","created":{"date-parts":[[2008,2,15]],"date-time":"2008-02-15T07:53:39Z","timestamp":1203062019000},"page":"493-497","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"title":["Giant caf\u00e9-au-lait macule in neurofibromatosis 1: A type 2 segmental manifestation of neurofibromatosis 1?"],"prefix":"10.1016","volume":"58","author":[{"given":"Chao-Chun","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rudolf","family":"Happle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheau-Chiou","family":"Chao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Yu-Yun Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"WenChieh","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaad.2007.03.013_bib1","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1001\/archneur.1988.00520290115023","article-title":"NIH Consensus Development Conference: Neurofibromatosis conference statement","volume":"45","author":"Stumpf","year":"1988","journal-title":"Arch Neurol"},{"key":"10.1016\/j.jaad.2007.03.013_bib2","series-title":"Fitzpatrick's dermatology in general medicine","first-page":"1825","article-title":"Neurofibromatoses","author":"Pivnick","year":"2003"},{"key":"10.1016\/j.jaad.2007.03.013_bib3","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1056\/NEJM198112313052704","article-title":"Von Recklinghausen neurofibromatosis","volume":"305","author":"Riccardi","year":"1981","journal-title":"N Engl J\u00a0Med"},{"key":"10.1016\/j.jaad.2007.03.013_bib4","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1093\/brain\/111.6.1355","article-title":"Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales","volume":"111","author":"Huson","year":"1988","journal-title":"Brain"},{"key":"10.1016\/j.jaad.2007.03.013_bib5","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1080\/000155599750010157","article-title":"Giant caf\u00e9 au lait spot in a patient\u00a0with neurofibromatosis","volume":"79","author":"Erdi","year":"1999","journal-title":"Acta Dermatol Venereol"},{"key":"10.1016\/j.jaad.2007.03.013_bib6","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1111\/j.1346-8138.2001.tb00090.x","article-title":"Giant caf\u00e9-au-lait macule in neurofibromatosis type 1","volume":"28","author":"Thappa","year":"2001","journal-title":"J Dermatol"},{"key":"10.1016\/j.jaad.2007.03.013_bib7","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1001\/archderm.1997.03890480025004","article-title":"A rule concerning the segmental manifestation of autosomal dominant skin disorders: review of case reports providing evidence for dichotomous types of severity","volume":"133","author":"Happle","year":"1997","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jaad.2007.03.013_bib8","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/S0190-9622(99)70042-3","article-title":"Loss of heterozygosity in human skin","volume":"41","author":"Happle","year":"1999","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jaad.2007.03.013_bib9","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1016\/S0190-9622(97)80013-8","article-title":"Segmental neurofibromatosis: case reports and review","volume":"37","author":"Hager","year":"1997","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jaad.2007.03.013_bib10","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1159\/000080856","article-title":"Partial unilateral lentiginosis with ipsilateral Lisch nodules and axillary freckling","volume":"209","author":"Chen","year":"2004","journal-title":"Dermatology"},{"key":"10.1016\/j.jaad.2007.03.013_bib11","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/0190-9622(90)70306-3","article-title":"Segmental neurofibromatosis","volume":"23","author":"Trattner","year":"1990","journal-title":"J Am Acad Dermatol"},{"issue":"Suppl 33","key":"10.1016\/j.jaad.2007.03.013_bib12","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1111\/j.1365-2133.1988.tb05445.x","article-title":"Segmental neurofibromatosis with generalized caf\u00e9 au lait spots","volume":"119","author":"Archer","year":"1988","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaad.2007.03.013_bib13","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<351::AID-AJMG8>3.0.CO;2-0","article-title":"Segmental forms of autosomal dominant skin disorders: the puzzle of mosaicism","volume":"85","author":"Itin","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaad.2007.03.013_bib14","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1002\/1096-8628(20010201)98:4<363::AID-AJMG1101>3.0.CO;2-A","article-title":"Large plexiform neurofibromas may be explained as a type 2 segmental manifestation of neurofibromatosis type 1","volume":"98","author":"Happle","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaad.2007.03.013_bib15","doi-asserted-by":"crossref","first-page":"842","DOI":"10.7326\/0003-4819-144-11-200606060-00010","article-title":"American College of Physicians; American Physiological Society. Pathophysiology of neurofibromatosis type 1","volume":"144","author":"Theos","year":"2006","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.jaad.2007.03.013_bib16","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1111\/j.1525-1470.1983.tb01093.x","article-title":"The incidence and significance of birthmarks in a cohort of 4641 new-borns","volume":"1","author":"Alper","year":"1983","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.jaad.2007.03.013_bib17","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S0733-8635(18)30774-5","article-title":"Neurofibromatosis and Albright's syndrome","volume":"5","author":"Riccardi","year":"1987","journal-title":"Dermatol Clin"},{"key":"10.1016\/j.jaad.2007.03.013_bib18","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1212\/WNL.56.11.1433","article-title":"The clinical and diagnostic implications of mosaicism in the neurofibromatoses","volume":"56","author":"Ruggieri","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.jaad.2007.03.013_bib19","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1177\/088307380401900515","article-title":"Familial segmental neurofibromatosis","volume":"19","author":"Oguzkan","year":"2004","journal-title":"J Child Neurol"},{"key":"10.1016\/j.jaad.2007.03.013_bib20","first-page":"106","article-title":"What is segmental neurofibromatosis?","volume":"130","author":"Moss","year":"1994","journal-title":"Br\u00a0J\u00a0Dermatol"},{"key":"10.1016\/j.jaad.2007.03.013_bib21","series-title":"Textbook of pediatric dermatology","first-page":"1467","article-title":"The neurofibromatoses","author":"Huson","year":"2006"},{"key":"10.1016\/j.jaad.2007.03.013_bib22","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/sj.ejhg.5200493","article-title":"Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene","volume":"8","author":"Tinschert","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jaad.2007.03.013_bib23","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1007\/s00439-003-1047-9","article-title":"Genetic and clinical mosaicism in a patient with neurofibromatosis type 1","volume":"114","author":"Vandenbroucke","year":"2004","journal-title":"Hum Genet"},{"key":"10.1016\/j.jaad.2007.03.013_bib24","first-page":"948","article-title":"Segmental neurofibromatosis of the sciatic nerve: case report","volume":"33","author":"Segal","year":"1993","journal-title":"Neurosurgery"},{"issue":"Suppl 2","key":"10.1016\/j.jaad.2007.03.013_bib25","first-page":"76","article-title":"Familial transmission of segmental neurofibromatosis","volume":"33","author":"Rubenstein","year":"1983","journal-title":"Neurology"},{"issue":"Suppl 5","key":"10.1016\/j.jaad.2007.03.013_bib26","doi-asserted-by":"crossref","first-page":"S84","DOI":"10.1016\/S0190-9622(03)01489-0","article-title":"Kerinokeratosis papulosa with a type 2 segmental manifestation","volume":"50","author":"Happle","year":"2004","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jaad.2007.03.013_bib27","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1111\/j.1346-8138.2002.tb00204.x","article-title":"New aspects of cutaneous mosaicism","volume":"29","author":"Happle","year":"2002","journal-title":"J Dermatol"},{"key":"10.1016\/j.jaad.2007.03.013_bib28","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1007\/s001050051309","article-title":"Segmental type-2-manifestation autosomal dominanter Hautkrankheiten: Entwicklung eines neuen formalgenetischen Konzeptes","volume":"52","author":"Happle","year":"2001","journal-title":"Hautarzt"},{"key":"10.1016\/j.jaad.2007.03.013_bib29","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1097\/00004728-200201000-00020","article-title":"Segmental colonic plexiform neurofibroma in neurofibromatosis type 1","volume":"26","author":"Yang","year":"2002","journal-title":"J Comput Assist Tomogr"},{"key":"10.1016\/j.jaad.2007.03.013_bib30","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1006\/bbrc.1997.6645","article-title":"Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene","volume":"234","author":"Daschner","year":"1997","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.jaad.2007.03.013_bib31","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S0165-4608(99)00006-0","article-title":"Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas","volume":"113","author":"Kluwe","year":"1999","journal-title":"Cancer Genet Cytogenet"},{"key":"10.1016\/j.jaad.2007.03.013_bib32","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/1098-2264(200008)28:4<425::AID-GCC8>3.0.CO;2-E","article-title":"Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1","volume":"28","author":"Rasmussen","year":"2000","journal-title":"Genes Chromosomes Cancer"},{"key":"10.1016\/j.jaad.2007.03.013_bib33","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1172\/JCI21791","article-title":"Allelic loss underlies type 2 segmental Hailey\u2013Hailey disease, providing molecular confirmation of a novel geneic concept","volume":"114","author":"Poblete-Gutierrez","year":"2004","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaad.2007.03.013_bib34","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1136\/jmg.39.5.315","article-title":"Molecular genetic analysis of the NF2 gene in young patients with unilateral schwannomas","volume":"39","author":"Mohyuddin","year":"2002","journal-title":"J Med Genet"},{"key":"10.1016\/j.jaad.2007.03.013_bib35","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1046\/j.1365-2133.2003.05249.x","article-title":"Multiple unilateral schwannomas: segmental neurofibromatosis type 2 or schwannomatosis?","volume":"148","author":"Leverkus","year":"2003","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaad.2007.03.013_bib36","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1002\/ajmg.1332","article-title":"Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5)","volume":"101","author":"Ruggieri","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaad.2007.03.013_bib37","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1136\/jmg.26.11.704","article-title":"A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity","volume":"26","author":"Huson","year":"1989","journal-title":"J Med Genet"},{"key":"10.1016\/j.jaad.2007.03.013_bib38","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1111\/j.0022-202X.2005.23834.x","article-title":"Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1","volume":"125","author":"Consoli","year":"2005","journal-title":"J invest Dermatol"},{"key":"10.1016\/j.jaad.2007.03.013_bib39","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1007\/s004390050341","article-title":"Somatic mosaicism for deletion of the entire NF1 gene identified by FISH","volume":"99","author":"Wu","year":"1997","journal-title":"Hum Genet"},{"key":"10.1016\/j.jaad.2007.03.013_bib40","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1038\/sj.jid.5700087","article-title":"Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes","volume":"126","author":"De Schepper","year":"2006","journal-title":"J\u00a0Invest Dermatol"}],"container-title":["Journal of the American Academy of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0190962207005476?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0190962207005476?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T22:12:56Z","timestamp":1759270376000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0190962207005476"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3]]},"references-count":40,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["S0190962207005476"],"URL":"https:\/\/doi.org\/10.1016\/j.jaad.2007.03.013","relation":{},"ISSN":["0190-9622"],"issn-type":[{"type":"print","value":"0190-9622"}],"subject":[],"published":{"date-parts":[[2008,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Giant caf\u00e9-au-lait macule in neurofibromatosis 1: A type 2 segmental manifestation of neurofibromatosis 1?","name":"articletitle","label":"Article Title"},{"value":"Journal of the American Academy of Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaad.2007.03.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}