{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T08:15:49Z","timestamp":1788250549246,"version":"build-2803163510"},"reference-count":94,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"vor","delay-in-days":366,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000005","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["W81XWH2210417"],"award-info":[{"award-number":["W81XWH2210417"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["R01 CA166593"],"award-info":[{"award-number":["R01 CA166593"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["U54 CA196519"],"award-info":[{"award-number":["U54 CA196519"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007880","name":"Johns Hopkins University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007880","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012304","name":"School of Medicine, Johns Hopkins University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012304","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2023,8]]},"DOI":"10.1016\/j.jid.2022.12.027","type":"journal-article","created":{"date-parts":[[2023,6,16]],"date-time":"2023-06-16T01:55:04Z","timestamp":1686880504000},"page":"1369-1377","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":21,"title":["Cutaneous Neurofibroma Heterogeneity: Factors that Influence Tumor Burden in Neurofibromatosis Type 1"],"prefix":"10.1016","volume":"143","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2074-0033","authenticated-orcid":false,"given":"Chunhui","family":"Jiang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5976-1996","authenticated-orcid":false,"given":"Ren\u00e9e M.","family":"McKay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3911-8316","authenticated-orcid":false,"given":"Sang Y.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0260-7047","authenticated-orcid":false,"given":"Carlos G.","family":"Romo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1049-0993","authenticated-orcid":false,"given":"Jaishri O.","family":"Blakeley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3927-2084","authenticated-orcid":false,"given":"Muzlifah","family":"Haniffa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2895-9857","authenticated-orcid":false,"given":"Eduard","family":"Serra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9003-6730","authenticated-orcid":false,"given":"Matthew R.","family":"Steensma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3183-0491","authenticated-orcid":false,"given":"David","family":"Largaespada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2817-5382","authenticated-orcid":false,"given":"Lu Q.","family":"Le","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jid.2022.12.027_bib1","doi-asserted-by":"crossref","first-page":"2365","DOI":"10.3390\/cells9112365","article-title":"Neurofibromin structure, functions and regulation","volume":"9","author":"Bergoug","year":"2020","journal-title":"Cells"},{"key":"10.1016\/j.jid.2022.12.027_bib2","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1159\/000369802","article-title":"Endocrine implications of neurofibromatosis 1 in childhood","volume":"83","author":"Bizzarri","year":"2015","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.jid.2022.12.027_bib3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jaad.2008.12.051","article-title":"Neurofibromatosis type 1","volume":"61","author":"Boyd","year":"2009","journal-title":"J\u00a0Am Acad Dermatol"},{"key":"10.1016\/j.jid.2022.12.027_bib4","doi-asserted-by":"crossref","first-page":"398","DOI":"10.2340\/00015555-2241","article-title":"Clinical characteristics of pruritus in neurofibromatosis 1","volume":"96","author":"Brenaut","year":"2016","journal-title":"Acta Derm Venereol"},{"key":"10.1016\/j.jid.2022.12.027_bib5","doi-asserted-by":"crossref","first-page":"5014","DOI":"10.1038\/s41467-018-07452-y","article-title":"NF1 heterozygosity fosters de novo tumorigenesis but impairs malignant transformation","volume":"9","author":"Brosseau","year":"2018","journal-title":"Nat Commun"},{"key":"10.1016\/j.jid.2022.12.027_bib6","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/s40478-020-01103-4","article-title":"Human cutaneous neurofibroma matrisome revealed by single-cell RNA sequencing","volume":"9","author":"Brosseau","year":"2021","journal-title":"Acta Neuropathol Commun"},{"key":"10.1016\/j.jid.2022.12.027_bib7","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s13023-018-0772-z","article-title":"Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study","volume":"13","author":"Cannon","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jid.2022.12.027_bib8","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.128881","article-title":"Robust surgical approach for cutaneous neurofibroma in neurofibromatosis type 1","volume":"4","author":"Chamseddin","year":"2019","journal-title":"JCI Insight"},{"key":"10.1016\/j.jid.2022.12.027_bib9","first-page":"i107","article-title":"Management of cutaneous neurofibroma: current therapy and future directions","volume":"2","author":"Chamseddin","year":"2020","journal-title":"Neurooncol Adv"},{"key":"10.1016\/j.jid.2022.12.027_bib10","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1016\/j.ccell.2014.09.009","article-title":"Cells of origin in the embryonic nerve roots for NF1-associated plexiform neurofibroma","volume":"26","author":"Chen","year":"2014","journal-title":"Cancer Cell"},{"key":"10.1016\/j.jid.2022.12.027_bib11","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1158\/2159-8290.CD-18-0151","article-title":"Spatiotemporal loss of NF1 in Schwann cell lineage leads to different types of cutaneous neurofibroma susceptible to modification by the hippo pathway","volume":"9","author":"Chen","year":"2019","journal-title":"Cancer Discov"},{"key":"10.1016\/j.jid.2022.12.027_bib12","doi-asserted-by":"crossref","first-page":"2172","DOI":"10.1126\/science.286.5447.2172","article-title":"Mouse models of tumor development in neurofibromatosis type 1","volume":"286","author":"Cichowski","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.jid.2022.12.027_bib13","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1111\/cge.12551","article-title":"Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life","volume":"88","author":"Cohen","year":"2015","journal-title":"Clin Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib14","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1038\/ng0995-90","article-title":"Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene","volume":"11","author":"Colman","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib15","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1136\/jcp.56.10.758","article-title":"Identification of growth hormone receptor in localised neurofibromas of patients with neurofibromatosis type 1","volume":"56","author":"Cunha","year":"2003","journal-title":"J\u00a0Clin Pathol"},{"key":"10.1016\/j.jid.2022.12.027_bib16","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/0896-6273(92)90270-N","article-title":"The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes","volume":"8","author":"Daston","year":"1992","journal-title":"Neuron"},{"key":"10.1016\/j.jid.2022.12.027_bib17","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1093\/hmg\/9.1.35","article-title":"NF1 microdeletion breakpoints are clustered at flanking repetitive sequences","volume":"9","author":"Dorschner","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib18","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1096-8628(19961202)66:1<7::AID-AJMG2>3.0.CO;2-R","article-title":"Neurofibromatosis type 1 and pregnancy","volume":"66","author":"Dugoff","year":"1996","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib19","first-page":"305","article-title":"An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes","volume":"53","author":"Easton","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib20","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1136\/jmg.39.5.311","article-title":"Malignant peripheral nerve sheath tumours in neurofibromatosis 1","volume":"39","author":"Evans","year":"2002","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib21","article-title":"Whole exome sequencing of growing and non-growing cutaneous neurofibromas from a single patient with neurofibromatosis type 1","volume":"12","author":"Faden","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.jid.2022.12.027_bib22","doi-asserted-by":"crossref","first-page":"781","DOI":"10.5114\/ada.2020.100488","article-title":"Clinical picture and treatment of cutaneous lesions in patients with neurofibromatosis type 1","volume":"37","author":"Fija\u0142kowska","year":"2020","journal-title":"Postepy Dermatol Alergol"},{"key":"10.1016\/j.jid.2022.12.027_bib23","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/mc.20236","article-title":"In\u00a0vitro studies of steroid hormones in neurofibromatosis 1 tumors and Schwann cells","volume":"46","author":"Fishbein","year":"2007","journal-title":"Mol Carcinog"},{"key":"10.1016\/j.jid.2022.12.027_bib24","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1111\/1523-1747.ep12275341","article-title":"Basement membrane proteins, interstitial collagens, and fibronectin in neurofibroma","volume":"85","author":"Fleischmajer","year":"1985","journal-title":"J\u00a0Invest Dermatol"},{"key":"10.1016\/j.jid.2022.12.027_bib25","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1002\/humu.21387","article-title":"Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: importance of copy neutral LOH","volume":"32","author":"Garcia-Linares","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jid.2022.12.027_bib26","doi-asserted-by":"crossref","first-page":"93","DOI":"10.4137\/CPath.S1002","article-title":"Progesterone and estrogen receptors in neurofibromas of patients with NF1","volume":"1","author":"Geller","year":"2008","journal-title":"Clin Med Pathol"},{"key":"10.1016\/j.jid.2022.12.027_bib27","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1590\/abd1806-4841.20164741","article-title":"Wound healing - a literature review","volume":"91","author":"Gonzalez","year":"2016","journal-title":"An Bras Dermatol"},{"key":"10.1016\/j.jid.2022.12.027_bib28","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1186\/s13023-019-1265-4","article-title":"Cutaneous neurofibromas: patients' medical burden, current management and therapeutic expectations: results from an online European patient community survey","volume":"14","author":"Guiraud","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jid.2022.12.027_bib29","doi-asserted-by":"crossref","first-page":"9658","DOI":"10.1073\/pnas.88.21.9658","article-title":"Identification of the neurofibromatosis type 1 gene product","volume":"88","author":"Gutmann","year":"1991","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jid.2022.12.027_bib30","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/S1474-4422(14)70063-8","article-title":"Neurofibromatosis type 1: a multidisciplinary approach to care","volume":"13","author":"Hirbe","year":"2014","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jid.2022.12.027_bib31","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1172\/JCI114148","article-title":"Type 1 neurofibromatosis: selective expression of extracellular matrix genes by Schwann cells, perineurial cells, and fibroblasts in mixed cultures","volume":"84","author":"Jaakkola","year":"1989","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.jid.2022.12.027_bib32","doi-asserted-by":"crossref","first-page":"5781","DOI":"10.1038\/s41388-021-01979-z","article-title":"Tumorigenesis in neurofibromatosis type 1: role of the microenvironment","volume":"40","author":"Jiang","year":"2021","journal-title":"Oncogene"},{"key":"10.1016\/j.jid.2022.12.027_bib33","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1159\/000517011","article-title":"Mast cells in human cutaneous neurofibromas: density, subtypes, and association with clinical features in neurofibromatosis 1","volume":"238","author":"Kallionp\u00e4\u00e4","year":"2022","journal-title":"Dermatology"},{"key":"10.1016\/j.jid.2022.12.027_bib34","first-page":"521","article-title":"Is the distribution of dermal neurofibromas in neurofibromatosis type 1 (NF1) related to the pattern of the skin surface temperature?","volume":"11","author":"Kaufmann","year":"2001","journal-title":"Eur J Dermatol"},{"key":"10.1016\/j.jid.2022.12.027_bib35","doi-asserted-by":"crossref","first-page":"2297","DOI":"10.1007\/s00381-020-04717-0","article-title":"Clinical characterization of children and adolescents with NF1 microdeletions","volume":"36","author":"Kehrer-Sawatzki","year":"2020","journal-title":"Childs Nerv Syst"},{"key":"10.1016\/j.jid.2022.12.027_bib36","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1007\/s00439-017-1766-y","article-title":"Emerging genotype-phenotype relationships in patients with large NF1 deletions","volume":"136","author":"Kehrer-Sawatzki","year":"2017","journal-title":"Hum Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib37","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1002\/ajmg.a.30394","article-title":"Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: a cohort study of 703 patients","volume":"132A","author":"Khosrotehrani","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jid.2022.12.027_bib38","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/humu.23929","article-title":"Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1","volume":"41","author":"Koczkowska","year":"2020","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jid.2022.12.027_bib39","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1038\/s41436-018-0269-0","article-title":"Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation","volume":"21","author":"Koczkowska","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.jid.2022.12.027_bib40","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1136\/jmg.2006.041095","article-title":"Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1","volume":"43","author":"Lammert","year":"2006","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib41","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1471-2407-5-16","article-title":"Do hormonal contraceptives stimulate growth of neurofibromas? A survey on 59 NF1 patients","volume":"5","author":"Lammert","year":"2005","journal-title":"BMC Cancer"},{"key":"10.1016\/j.jid.2022.12.027_bib42","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1097\/01.COT.0000502634.14826.10","article-title":"Defining the research landscape for dermal neurofibromas","volume":"38","author":"Le","year":"2016","journal-title":"Oncol Times"},{"key":"10.1016\/j.jid.2022.12.027_bib43","doi-asserted-by":"crossref","first-page":"4686","DOI":"10.1158\/0008-5472.CAN-10-4577","article-title":"Susceptible stages in Schwann cells for NF1-associated plexiform neurofibroma development","volume":"71","author":"Le","year":"2011","journal-title":"Cancer Res"},{"key":"10.1016\/j.jid.2022.12.027_bib44","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.stem.2009.03.017","article-title":"Cell of origin and microenvironment contribution for NF1-associated dermal neurofibromas","volume":"4","author":"Le","year":"2009","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.jid.2022.12.027_bib45","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1038\/s41436-021-01170-5","article-title":"Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation","volume":"23","author":"Legius","year":"2021","journal-title":"Genet Med"},{"key":"10.1016\/j.jid.2022.12.027_bib46","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/(SICI)1096-8628(1997)73:2<197::AID-AJMG17>3.0.CO;2-P","article-title":"Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata","volume":"73","author":"Leppig","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib47","doi-asserted-by":"crossref","first-page":"758","DOI":"10.4161\/cbt.10.8.12878","article-title":"Analysis of steroid hormone effects on xenografted human NF1 tumor Schwann cells","volume":"10","author":"Li","year":"2010","journal-title":"Cancer Biol Ther"},{"key":"10.1016\/j.jid.2022.12.027_bib48","first-page":"i13","article-title":"New insights into the neurofibroma tumor cells of origin","volume":"2","author":"Li","year":"2020","journal-title":"Neurooncol Adv"},{"key":"10.1016\/j.jid.2022.12.027_bib49","doi-asserted-by":"crossref","first-page":"2848","DOI":"10.1172\/JCI99424","article-title":"Contributions of inflammation and tumor microenvironment to neurofibroma tumorigenesis","volume":"128","author":"Liao","year":"2018","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.jid.2022.12.027_bib50","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1016\/j.mcna.2019.07.004","article-title":"The diagnosis and management of neurofibromatosis type 1","volume":"103","author":"Ly","year":"2019","journal-title":"Med Clin North Am"},{"key":"10.1016\/j.jid.2022.12.027_bib51","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1590\/0004-282X20160122","article-title":"Autonomic thermoregulatory dysfunction in neurofibromatosis type 1","volume":"74","author":"Madeira","year":"2016","journal-title":"Arq Neuropsiquiatr"},{"key":"10.1016\/j.jid.2022.12.027_bib52","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1086\/519562","article-title":"Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1","volume":"81","author":"Maertens","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib53","doi-asserted-by":"crossref","first-page":"S25","DOI":"10.1212\/WNL.0000000000012427","article-title":"Measuring the effect of cutaneous neurofibromas on quality of life in neurofibromatosis type 1","volume":"97","author":"Maguiness","year":"2021","journal-title":"Neurology"},{"key":"10.1016\/j.jid.2022.12.027_bib54","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1215\/15228517-2008-011","article-title":"Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1","volume":"10","author":"Mautner","year":"2008","journal-title":"Neuro Oncol"},{"key":"10.1016\/j.jid.2022.12.027_bib55","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1136\/jmg.2009.075937","article-title":"Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions","volume":"47","author":"Mautner","year":"2010","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib56","first-page":"752","article-title":"Progesterone receptor expression in neurofibromas","volume":"63","author":"McLaughlin","year":"2003","journal-title":"Cancer Res"},{"key":"10.1016\/j.jid.2022.12.027_bib57","doi-asserted-by":"crossref","first-page":"e8","DOI":"10.1136\/jmg.2005.034256","article-title":"Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature","volume":"43","author":"Mensink","year":"2006","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib58","series-title":"MF1 mutational spectrum","first-page":"15","author":"Messiaen","year":"2008"},{"key":"10.1016\/j.jid.2022.12.027_bib59","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1038\/s41388-021-02156-y","article-title":"Neurofibromin and suppression of tumorigenesis: beyond the GAP","volume":"41","author":"Mo","year":"2022","journal-title":"Oncogene"},{"key":"10.1016\/j.jid.2022.12.027_bib60","first-page":"628","article-title":"Assessment of pain and itch behavior in a mouse model of neurofibromatosis type 1","volume":"14","author":"O'Brien","year":"2013","journal-title":"J\u00a0Pain"},{"key":"10.1016\/j.jid.2022.12.027_bib61","doi-asserted-by":"crossref","first-page":"S5","DOI":"10.1212\/WNL.0000000000005792","article-title":"Cutaneous neurofibromas: current clinical and pathologic issues","volume":"91","author":"Ortonne","year":"2018","journal-title":"Neurology"},{"key":"10.1016\/j.jid.2022.12.027_bib62","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1203\/PDR.0b013e31817445b8","article-title":"Schwann cells from human neurofibromas show increased proliferation rates under the influence of progesterone","volume":"64","author":"Overdiek","year":"2008","journal-title":"Pediatr Res"},{"key":"10.1016\/j.jid.2022.12.027_bib63","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1002\/ajmg.a.31422","article-title":"Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of 176 American cases","volume":"140","author":"Page","year":"2006","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jid.2022.12.027_bib64","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1136\/jmedgenet-2012-100978","article-title":"Neurofibromatosis type 1: from genotype to phenotype","volume":"49","author":"Pasmant","year":"2012","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib65","first-page":"345","article-title":"Distribution of different collagen types and fibronectin in neurofibromatosis tumours","volume":"92","author":"Peltonen","year":"1984","journal-title":"Acta Pathol Microbiol Immunol Scand A"},{"key":"10.1016\/j.jid.2022.12.027_bib66","first-page":"487","article-title":"Type VI collagen. In situ hybridizations and immunohistochemistry reveal abundant mRNA and protein levels in human neurofibroma, schwannoma and normal peripheral nerve tissues","volume":"62","author":"Peltonen","year":"1990","journal-title":"Lab Invest"},{"key":"10.1016\/j.jid.2022.12.027_bib67","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/s11010-017-3227-2","article-title":"The effect of estradiol, testosterone, and human chorionic gonadotropin on the proliferation of Schwann cells with NF1+\/- or NF1-\/- genotype derived from human cutaneous neurofibromas","volume":"444","author":"Pennanen","year":"2018","journal-title":"Mol Cell Biochem"},{"key":"10.1016\/j.jid.2022.12.027_bib68","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1158\/2159-8290.CD-18-0156","article-title":"Cellular origin, tumor progression, and pathogenic mechanisms of cutaneous neurofibromas revealed by mice with Nf1 knockout in boundary cap cells","volume":"9","author":"Radomska","year":"2019","journal-title":"Cancer Discov"},{"key":"10.1016\/j.jid.2022.12.027_bib69","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.celrep.2013.08.033","article-title":"Injury signals cooperate with Nf1 loss to relieve the tumor-suppressive environment of adult peripheral nerve","volume":"5","author":"Ribeiro","year":"2013","journal-title":"Cell Rep"},{"key":"10.1016\/j.jid.2022.12.027_bib70","first-page":"129","article-title":"Cutaneous manifestation of neurofibromatosis: cellular interaction, pigmentation, and mast cells","volume":"17","author":"Riccardi","year":"1981","journal-title":"Birth Defects Orig Artic Ser"},{"key":"10.1016\/j.jid.2022.12.027_bib71","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1001\/archderm.1987.01660320053011","article-title":"Mast-cell stabilization to decrease neurofibroma growth. Preliminary experience with ketotifen","volume":"123","author":"Riccardi","year":"1987","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jid.2022.12.027_bib72","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1001\/archderm.1993.01680260047004","article-title":"A\u00a0controlled multiphase trial of ketotifen to minimize neurofibroma-associated pain and itching","volume":"129","author":"Riccardi","year":"1993","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jid.2022.12.027_bib73","doi-asserted-by":"crossref","first-page":"1570","DOI":"10.1002\/ajmg.a.37045","article-title":"Ketotifen suppression of NF1 neurofibroma growth over 30 years","volume":"167","author":"Riccardi","year":"2015","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jid.2022.12.027_bib74","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1002\/humu.22832","article-title":"High Incidence of Noonan syndrome Features Including Short Stature and Pulmonic stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation","volume":"36","author":"Rojnueangnit","year":"2015","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jid.2022.12.027_bib75","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1186\/s13023-017-0734-x","article-title":"Receptor of ghrelin is expressed in cutaneous neurofibromas of individuals with neurofibromatosis 1","volume":"12","author":"Rozza-de-Menezes","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jid.2022.12.027_bib76","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":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.jid.2022.12.027_bib77","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1038\/ng0996-110","article-title":"Identification of NF1 mutations in both alleles of a dermal neurofibroma","volume":"14","author":"Sawada","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib78","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1086\/515504","article-title":"Confirmation of a double-hit model for the NF1 gene in benign neurofibromas","volume":"61","author":"Serra","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib79","first-page":"237","article-title":"Presence of type I and VI collagen mRNAs in endothelial cells in cutaneous neurofibromas","volume":"65","author":"Sollberg","year":"1991","journal-title":"Lab Invest"},{"key":"10.1016\/j.jid.2022.12.027_bib80","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1182\/blood-2009-09-242875","article-title":"Mast cells and the neurofibroma microenvironment","volume":"116","author":"Staser","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.jid.2022.12.027_bib81","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1038\/ejhg.2009.129","article-title":"Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients","volume":"18","author":"Titze","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib82","doi-asserted-by":"crossref","first-page":"e616","DOI":"10.1002\/mgg3.616","article-title":"The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas","volume":"7","author":"Trevisson","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.jid.2022.12.027_bib83","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/j.1749-6632.1986.tb48080.x","article-title":"Connective tissue biochemistry of neurofibromas","volume":"486","author":"Uitto","year":"1986","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.jid.2022.12.027_bib84","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1086\/510781","article-title":"An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation","volume":"80","author":"Upadhyaya","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib85","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1200\/JCO.2015.65.3576","article-title":"Distinctive cancer associations in patients with neurofibromatosis type 1","volume":"34","author":"Uusitalo","year":"2016","journal-title":"J\u00a0Clin Oncol"},{"key":"10.1016\/j.jid.2022.12.027_bib86","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1111\/j.0303-6987.2005.00311.x","article-title":"Cutaneous lipomatous neurofibroma: characterization and frequency","volume":"32","author":"Val-Bernal","year":"2005","journal-title":"J\u00a0Cutan Pathol"},{"key":"10.1016\/j.jid.2022.12.027_bib87","doi-asserted-by":"crossref","first-page":"2176","DOI":"10.1126\/science.286.5447.2176","article-title":"Mouse tumor model for neurofibromatosis type 1","volume":"286","author":"Vogel","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.jid.2022.12.027_bib88","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0232031","article-title":"The effect of pregnancy on growth-dynamics of neurofibromas in neurofibromatosis type 1","volume":"15","author":"Well","year":"2020","journal-title":"PLoS One"},{"key":"10.1016\/j.jid.2022.12.027_bib89","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1001\/archderm.137.11.1421","article-title":"Quality-of-life impairment in neurofibromatosis type 1: a cross-sectional study of 128 cases","volume":"137","author":"Wolkenstein","year":"2001","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jid.2022.12.027_bib90","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1001\/archderm.139.1.103","article-title":"Visibility of neurofibromatosis 1 and psychiatric morbidity","volume":"139","author":"Wolkenstein","year":"2003","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jid.2022.12.027_bib91","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.jdcr.2014.10.006","article-title":"Eruptive neurofibromas in pregnancy","volume":"1","author":"Xiong","year":"2015","journal-title":"JAAD Case Rep"},{"key":"10.1016\/j.jid.2022.12.027_bib92","doi-asserted-by":"crossref","first-page":"150","DOI":"10.4103\/aam.aam_37_19","article-title":"Eruptive neurofibromas in pregnancy","volume":"19","author":"Yahya","year":"2020","journal-title":"Ann Afr Med"},{"key":"10.1016\/j.jid.2022.12.027_bib93","doi-asserted-by":"crossref","first-page":"2421","DOI":"10.1093\/hmg\/ddl165","article-title":"Nf1+\/- mast cells induce neurofibroma like phenotypes through secreted TGF-beta signaling","volume":"15","author":"Yang","year":"2006","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jid.2022.12.027_bib94","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1126\/science.1068452","article-title":"Neurofibromas in NF1: Schwann cell origin and role of tumor environment","volume":"296","author":"Zhu","year":"2002","journal-title":"Science"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X23019565?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X23019565?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T21:53:11Z","timestamp":1762206791000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X23019565"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8]]},"references-count":94,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["S0022202X23019565"],"URL":"https:\/\/doi.org\/10.1016\/j.jid.2022.12.027","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2023,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cutaneous Neurofibroma Heterogeneity: Factors that Influence Tumor Burden in Neurofibromatosis Type 1","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jid.2022.12.027","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology.","name":"copyright","label":"Copyright"}]}}