{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T22:22:26Z","timestamp":1788733346826,"version":"build-2803163510"},"reference-count":133,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T00:00:00Z","timestamp":1710288000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Neurocutaneous disorders, also known as phakomatoses, are congenital and acquired syndromes resulting in simultaneous neurologic and cutaneous involvement. In several of these conditions, the genetic phenomenon is understood, providing a pivotal role in the development of therapeutic options. This review encompasses the discussion of the genetic and clinical involvement of neurocutaneous disorders, and examines clinical management and treatment options. With the current advances in genetics, the role of precision medicine and targeted therapy play a substantial role in addressing the management of these conditions. The interconnectedness between therapeutic options highlights the importance of precision medicine in treating each disorder\u2019s unique molecular pathway. This review provides an extensive synthesis of ongoing and current therapeutics in the management of such clinically unique and challenging conditions.<\/jats:p>","DOI":"10.3390\/jcm13061648","type":"journal-article","created":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T13:08:43Z","timestamp":1710335323000},"page":"1648","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Neurocutaneous Diseases: Diagnosis, Management, and Treatment"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-7467-2382","authenticated-orcid":false,"given":"Ivelina","family":"Kioutchoukova","sequence":"first","affiliation":[{"name":"College of Medicine, University of Florida, Gainsville, FL 32610, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devon","family":"Foster","sequence":"additional","affiliation":[{"name":"Herbert Wertheim College of Medicine, Miami, FL 33199, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajvi","family":"Thakkar","sequence":"additional","affiliation":[{"name":"College of Medicine, University of Florida, Gainsville, FL 32610, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-8994-160X","authenticated-orcid":false,"given":"Christopher","family":"Ciesla","sequence":"additional","affiliation":[{"name":"Herbert Wertheim College of Medicine, Miami, FL 33199, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jake Salvatore","family":"Cabassa","sequence":"additional","affiliation":[{"name":"Herbert Wertheim College of Medicine, Miami, FL 33199, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Strouse","sequence":"additional","affiliation":[{"name":"Herbert Wertheim College of Medicine, Miami, FL 33199, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayley","family":"Kurz","sequence":"additional","affiliation":[{"name":"College of Medicine, University of Florida, Gainsville, FL 32610, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6577-4080","authenticated-orcid":false,"given":"Brandon","family":"Lucke-Wold","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University of Florida, Gainesville, FL 32610, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/B978-0-444-53485-9.00027-1","article-title":"Neurocutaneous syndromes","volume":"135","author":"Klar","year":"2016","journal-title":"Handb. Clin. Neurol."},{"key":"ref_2","unstructured":"Le, C., and Bedocs, P.M. (2023, December 10). Neurofibromatosis, StatPearls [Internet], Available online: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK459329\/."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"17004","DOI":"10.1038\/nrdp.2017.4","article-title":"Neurofibromatosis type 1","volume":"3","author":"Gutmann","year":"2017","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1186\/1479-7364-5-6-623","article-title":"Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis","volume":"5","author":"Thomas","year":"2011","journal-title":"Hum. Genom."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1667","DOI":"10.1016\/j.jaad.2020.07.105","article-title":"Neurofibromatosis type 1: New developments in genetics and treatment","volume":"84","author":"Wilson","year":"2020","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1080\/13543784.2023.2263836","article-title":"NF1 alterations in cancers: Therapeutic implications in precision medicine","volume":"32","author":"Giraud","year":"2023","journal-title":"Expert. Opin. Investig. Drugs"},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Bergoug, M., Doudeau, M., Godin, F., Mosrin, C., Vall\u00e9e, B., and B\u00e9n\u00e9detti, H. (2020). Neurofibromin Structure, Functions and Regulation. Cells, 9.","DOI":"10.3390\/cells9112365"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2285","DOI":"10.1007\/s00381-020-04771-8","article-title":"Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism","volume":"36","author":"Legius","year":"2020","journal-title":"Child\u2019s Nerv. Syst."},{"key":"ref_9","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":"ref_10","first-page":"334","article-title":"Neurofibromatosis type 1\u2014Description of clinical features and molecular mechanism of the disease","volume":"17","author":"Jackowska","year":"2013","journal-title":"Med. Wieku Rozwoj."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"adv5758","DOI":"10.2340\/actadv.v103.5758","article-title":"Characteristics of Caf\u00e9-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children","volume":"103","author":"Nasi","year":"2023","journal-title":"Acta Derm.-Venereol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1993","DOI":"10.1093\/brain\/awh234","article-title":"Neurofibromatosis 1-associated neuropathies: A reappraisal","volume":"127","author":"Drouet","year":"2004","journal-title":"Brain"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1111\/cge.12498","article-title":"The natural history of spinal neurofibromatosis: A critical review of clinical and genetic features","volume":"87","author":"Ruggieri","year":"2014","journal-title":"Clin. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Yoshida, Y. (2023). Neurofibromatosis 1 (von Recklinghausen Disease). Keio J. Med.","DOI":"10.2302\/kjm.2023-0013-IR"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1111\/1346-8138.15327","article-title":"Genetic analyses of mosaic neurofibromatosis type 1 with giant caf\u00e9-au-lait macule, plexiform neurofibroma and multiple melanocytic nevi","volume":"47","author":"Hida","year":"2020","journal-title":"J. Dermatol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1111\/ddg.14707","article-title":"The NF1 microdeletion syndrome: Early genetic diagnosis facilitates the management of a clinically defined disease","volume":"20","author":"Lewerenz","year":"2022","journal-title":"J. Dtsch. Dermatol. Ges."},{"key":"ref_17","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":"ref_18","doi-asserted-by":"crossref","first-page":"100844","DOI":"10.1016\/j.conctc.2021.100844","article-title":"High tech and high touch: Recruitment strategies for enrolling African American stroke survivors in Community Based Intervention under Nurse Guidance after stroke (CINGS) trial","volume":"24","author":"Magwood","year":"2021","journal-title":"Contemp. Clin. Trials Commun."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1056\/NEJMoa1912735","article-title":"Selumetinib in Children with Inoperable Plexiform Neurofibromas","volume":"382","author":"Gross","year":"2020","journal-title":"N. Engl. J. Med."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s11060-020-03443-6","article-title":"Selumetinib for plexiform neurofibromas in neurofibromatosis type 1: A single-institution experience","volume":"147","author":"Santo","year":"2020","journal-title":"J. Neuro-Oncol."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Armstrong, A.E., Belzberg, A.J., Crawford, J.R., Hirbe, A.C., and Wang, Z.J. (2023). Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas. BMC Cancer, 23.","DOI":"10.1186\/s12885-023-10996-y"},{"key":"ref_22","first-page":"1","article-title":"Gene therapy strategies and prospects for neurofibromatosis type 1","volume":"38","author":"Zheng","year":"2024","journal-title":"Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1177\/0883073816666736","article-title":"Neurofibromatosis Type 2","volume":"32","author":"Fisher","year":"2017","journal-title":"J. Child. Neurol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1038\/onc.2015.125","article-title":"Role of Merlin\/NF2 inactivation in tumor biology","volume":"35","author":"Petrilli","year":"2016","journal-title":"Oncogene"},{"key":"ref_25","unstructured":"Tiwari, R., and Singh, A.K. (2024, March 08). Neurofibromatosis Type 2, StatPearls [Internet], Available online: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK470350\/."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1136\/jmedgenet-2014-102973","article-title":"Bilateral vestibular schwannomas in older patients: NF2 or chance?","volume":"52","author":"Evans","year":"2015","journal-title":"J. Med. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1136\/jmedgenet-2017-104519","article-title":"Genetic Severity Score predicts clinical phenotype in NF2","volume":"54","author":"Halliday","year":"2017","journal-title":"J. Med. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"fcad197","DOI":"10.1093\/braincomms\/fcad197","article-title":"The comparable tumour microenvironment in sporadic and NF2-related schwannomatosis vestibular schwannoma","volume":"5","author":"Gregory","year":"2023","journal-title":"Brain Commun."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1016\/B978-0-444-52902-2.00054-0","article-title":"Neurofibromatosis type 2 (NF2): Diagnosis and management","volume":"115","author":"Lloyd","year":"2013","journal-title":"Handb. Clin. Neurol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1016\/j.gim.2022.05.007","article-title":"Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation","volume":"24","author":"Plotkin","year":"2022","journal-title":"Genet. Med."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1007\/s11912-023-01388-3","article-title":"Advances in Targeted Therapy for Neurofibromatosis Type 2 (NF2)-Associated Vestibular Schwannomas","volume":"25","author":"Cumpston","year":"2023","journal-title":"Curr. Oncol. Rep."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"855","DOI":"10.3171\/2008.10.JNS081014","article-title":"Prospective comparison of quality of life before and after observation, radiation, or surgery for vestibular schwannomas","volume":"111","author":"Akagami","year":"2009","journal-title":"J. Neurosurg."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/s11060-019-03234-8","article-title":"Efficacy and safety of bevacizumab for vestibular schwannoma in neurofibromatosis type 2: A systematic review and meta-analysis of treatment outcomes","volume":"144","author":"Lu","year":"2019","journal-title":"J. Neurooncol."},{"key":"ref_34","first-page":"vdaa153","article-title":"New developments in neurofibromatosis type 2 and vestibular schwannoma","volume":"3","author":"Ren","year":"2021","journal-title":"Neurooncol. Adv."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"95","DOI":"10.5387\/fms.2023-05","article-title":"Current progress in genomics and targeted therapies for neurofibromatosis type 2","volume":"69","author":"Hiruta","year":"2023","journal-title":"Fukushima J. Med. Sci."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.pediatrneurol.2013.08.001","article-title":"Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference","volume":"49","author":"Northrup","year":"2013","journal-title":"Pediatr. Neurol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.pediatrneurol.2016.07.003","article-title":"Applying the Lessons of Tuberous Sclerosis: The 2015 Hower Award Lecture","volume":"63","author":"Roach","year":"2016","journal-title":"Pediatr. Neurol."},{"key":"ref_38","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Bean, L.J. (2024, March 08). Tuberous Sclerosis Complex, GeneReviews\u00ae [Internet], Available online: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1220\/."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1086\/302381","article-title":"Comprehensive mutation analysis of TSC1 and TSC2\u2014And phenotypic correlations in 150 families with tuberous sclerosis","volume":"64","author":"Jones","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_40","first-page":"88","article-title":"Genotype\/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States","volume":"9","author":"Au","year":"2007","journal-title":"Anesth. Analg."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1126\/science.277.5327.805","article-title":"Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34","volume":"277","author":"Hermans","year":"1997","journal-title":"Science"},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"European Chromosome 16 Tuberous Sclerosis Consortium (1993). Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell, 75, 1305\u20131315.","DOI":"10.1016\/0092-8674(93)90618-Z"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1","DOI":"10.2147\/TACG.S90262","article-title":"Genetics of tuberous sclerosis complex: Implications for clinical practice","volume":"10","author":"Caban","year":"2017","journal-title":"Appl. Clin. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1590\/1678-4685-gmb-2015-0321","article-title":"TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: A review","volume":"40","author":"Rosset","year":"2017","journal-title":"Genet. Mol. Biol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"39","DOI":"10.3389\/fnana.2020.00039","article-title":"The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)","volume":"14","author":"Feliciano","year":"2020","journal-title":"Front. Neuroanat."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1001\/jamadermatol.2014.938","article-title":"Dermatologic and dental aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements","volume":"150","author":"Teng","year":"2014","journal-title":"JAMA Dermatol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1111\/pde.12567","article-title":"Tuberous Sclerosis Complex: An Update for Dermatologists","volume":"32","author":"Jacks","year":"2015","journal-title":"Pediatr. Dermatol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"142","DOI":"10.4103\/2229-5178.153026","article-title":"Tuberous sclerosis","volume":"6","author":"George","year":"2015","journal-title":"Indian Dermatol. Online J."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1136\/archdischild-2016-312001","article-title":"Cutaneous manifestations of tuberous sclerosis complex and the paediatrician\u2019s role","volume":"102","author":"Cardis","year":"2017","journal-title":"Arch. Dis. Child."},{"key":"ref_50","doi-asserted-by":"crossref","unstructured":"Dao, D.-P.D., Pixley, J.N., Akkurt, Z.M., and Feldman, S.R. (2023). A Review of Topical Sirolimus for the Treatment of Facial Angiofibromas in Tuberous Sclerosis Complex. Ann. Pharmacother.","DOI":"10.1177\/10600280231182421"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.34172\/jlms.2021.24","article-title":"Spectacular Effect of Massive Facial Angiofibromas Removal with a Carbon Dioxide Laser as a Manifestation of a Tuberous Sclerosis Complex","volume":"12","author":"Turska","year":"2021","journal-title":"J. Lasers Med. Sci."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1056\/NEJMoa1213507","article-title":"Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ","volume":"368","author":"Shirley","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1001\/archderm.141.3.385","article-title":"Phacomatosis pigmentovascularis revisited and reclassified","volume":"141","author":"Happle","year":"2005","journal-title":"Arch. Dermatol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1007\/BF01955059","article-title":"Relationship between caf\u00e9-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): A follow-up study","volume":"152","author":"Fois","year":"1993","journal-title":"Eur. J. Pediatr."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"63","DOI":"10.2147\/TACG.S363685","article-title":"Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache","volume":"16","author":"Ivars","year":"2023","journal-title":"Appl. Clin. Genet."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1542\/pir.2021-005437","article-title":"Port-wine Birthmarks: Update on Diagnosis, Risk Assessment for Sturge-Weber Syndrome, and Management","volume":"43","author":"Poliner","year":"2022","journal-title":"Pediatr. Rev."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"iyad077","DOI":"10.1093\/genetics\/iyad077","article-title":"Developmental expression of the Sturge\u2013Weber syndrome-associated genetic mutation in Gnaq: A formal test of Happle\u2019s paradominant inheritance hypothesis","volume":"224","author":"Galeffi","year":"2023","journal-title":"Genetics"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.jid.2020.03.978","article-title":"Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome","volume":"141","author":"Thorpe","year":"2020","journal-title":"J. Investig. Dermatol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.jid.2015.11.027","article-title":"Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis","volume":"136","author":"Thomas","year":"2016","journal-title":"J. Investig. Dermatol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1111\/bjd.13203","article-title":"New vascular classification of port-wine stains: Improving prediction of Sturge\u2013Weber risk","volume":"171","author":"Waelchli","year":"2014","journal-title":"Br. J. Dermatol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"3061","DOI":"10.1111\/ene.15452","article-title":"GNA11-mutated Sturge\u2013Weber syndrome has distinct neurological and dermatological features","volume":"29","author":"Dompmartin","year":"2022","journal-title":"Eur. J. Neurol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"39","DOI":"10.4103\/1817-1745.131483","article-title":"Paroxysmal vascular events in Sturge\u2013Weber syndrome: Role of aspirin","volume":"9","author":"Sanghvi","year":"2014","journal-title":"J. Pediatr. Neurosci."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"3769","DOI":"10.1161\/STROKEAHA.122.038585","article-title":"Updates on Sturge-Weber Syndrome","volume":"53","author":"Yeom","year":"2022","journal-title":"Stroke"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1586\/14737175.7.8.951","article-title":"Sturge\u2013Weber syndrome and epilepsy: An argument for aggressive seizure management in these patients","volume":"7","author":"Comi","year":"2007","journal-title":"Expert. Rev. Neurother."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.pediatrneurol.2018.12.002","article-title":"Physical and Family History Variables Associated with Neurological and Cognitive Development in Sturge-Weber Syndrome","volume":"96","author":"Day","year":"2019","journal-title":"Pediatr. Neurol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1111\/aos.13074","article-title":"Visual outcome in Sturge-Weber syndrome: A systematic review and Dutch multicentre cohort","volume":"94","author":"Koenraads","year":"2016","journal-title":"Acta Ophthalmol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1177\/088307389501000113","article-title":"Sturge-Weber syndrome: Age of onset of seizures and glaucoma and the prognosis for affected children","volume":"10","author":"Sujansky","year":"1995","journal-title":"J. Child. Neurol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.yebeh.2018.08.006","article-title":"Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome","volume":"88","author":"Gittins","year":"2018","journal-title":"Epilepsy Behav."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1177\/088307380001501004","article-title":"Psychological functioning in children and adolescents with Sturge-Weber syndrome","volume":"15","author":"Chapieski","year":"2000","journal-title":"J. Child. Neurol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1136\/adc.87.5.434","article-title":"Pulsed dye laser for Sturge-Weber syndrome","volume":"87","author":"Boralevi","year":"2002","journal-title":"Arch. Dis. Child."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1159\/000120677","article-title":"The natural history of patients with the Sturge-Weber syndrome","volume":"18","author":"Oakes","year":"1992","journal-title":"Pediatr. Neurosurg."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/s11940-008-0006-0","article-title":"Sturge-weber syndrome: A unified pathophysiologic mechanism","volume":"10","author":"Parsa","year":"2008","journal-title":"Curr. Treat. Options Neurol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1038\/jhg.2014.95","article-title":"The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome","volume":"59","author":"Nakashima","year":"2014","journal-title":"J. Hum. Genet."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.pediatrneurol.2021.04.013","article-title":"Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations","volume":"121","author":"Sabeti","year":"2021","journal-title":"Pediatr. Neurol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.pediatrneurol.2021.02.006","article-title":"Multicenter Research Data of Epilepsy Management in Patients with Sturge-Weber Syndrome","volume":"119","author":"Smegal","year":"2021","journal-title":"Pediatr. Neurol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"202","DOI":"10.25259\/IJDVL_1075_2022","article-title":"Efficacy of hemoporfin-mediated photodynamic therapy in treating Sturge\u2013Weber syndrome associated port-wine stains: A retrospective study","volume":"90","author":"Huang","year":"2023","journal-title":"Indian J. Dermatol. Venereol. Leprol."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.pediatrneurol.2018.04.005","article-title":"A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome","volume":"84","author":"Luat","year":"2018","journal-title":"Pediatr. Neurol."},{"key":"ref_78","unstructured":"Mikhail, M.I., and Singh, A.K. (2023, December 10). Von Hippel-Lindau Syndrome, StatPearls [Internet], Available online: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK459242\/."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1053\/j.seminoncol.2016.09.001","article-title":"Genetic predisposition to kidney cancer","volume":"43","author":"Schmidt","year":"2016","journal-title":"Semin. Oncol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"2537","DOI":"10.1007\/s00381-020-04712-5","article-title":"Hemangioblastoma and von Hippel-Lindau disease: Genetic background, spectrum of disease, and neurosurgical treatment","volume":"36","author":"Klingler","year":"2020","journal-title":"Child\u2019s Nerv. Syst."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"2331","DOI":"10.1097\/01.hjh.0000251887.01885.54","article-title":"Pheochromocytoma: Presentation, diagnosis and treatment","volume":"24","author":"Reisch","year":"2006","journal-title":"J. Hypertens."},{"key":"ref_82","unstructured":"Feingold, K.R., Anawalt, B., Blackman, M.R., Boyce, A., Chrousos, G., and Corpas, E. (2023, December 10). Von Hippel-Lindau Disease, Endotext [Internet], Available online: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK279124\/."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/B978-0-444-62702-5.00010-X","article-title":"Von Hippel-Lindau disease","volume":"132","author":"Chittiboina","year":"2015","journal-title":"Handb. Clin. Neurol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1086\/302726","article-title":"Mosaicism in von Hippel\u2013Lindau disease: Lessons from kindreds with germline mutations identified in offspring with mosaic parents","volume":"66","author":"Sgambati","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1038\/nrc885","article-title":"Molecular basis of the VHL hereditary cancer syndrome","volume":"2","author":"Kaelin","year":"2002","journal-title":"Nat. Rev. Cancer"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1172\/JCI120855","article-title":"Hypoxia, angiogenesis, and metabolism in the hereditary kidney cancers","volume":"129","author":"Chappell","year":"2019","journal-title":"J. Clin. Investig."},{"key":"ref_87","first-page":"41","article-title":"The dermatologist\u2019s guide to hereditary syndromes with renal tumors","volume":"81","author":"Ferzli","year":"2008","journal-title":"Cutis"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/S0039-6257(01)00245-4","article-title":"von Hippel-Lindau disease","volume":"46","author":"Singh","year":"2001","journal-title":"Surv. Ophthalmol."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1111\/j.1742-1241.2011.02714.x","article-title":"Heart failure in pregnancy: An overview","volume":"65","author":"Ahmad","year":"2011","journal-title":"Int. J. Clin. Pract."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"5771","DOI":"10.1038\/onc.2017.189","article-title":"Melanocytic nevi and melanoma: Unraveling a complex relationship","volume":"36","author":"Damsky","year":"2017","journal-title":"Oncogene"},{"key":"ref_91","unstructured":"Jha, S.K., and Mendez, M.D. (2023, December 10). Cafe Au Lait Macules, StatPearls [Internet], Available online: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK557492\/."},{"key":"ref_92","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Bean, L.J. (2023, December 10). Von Hippel-Lindau Syndrome, GeneReviews\u00ae [Internet], Available online: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1463\/."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"2871","DOI":"10.1002\/cncr.34265","article-title":"Multidisciplinary integrated care pathway for von Hippel\u2013Lindau disease","volume":"128","author":"Wolters","year":"2022","journal-title":"Cancer"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1093\/jjco\/hyy053","article-title":"Drug review: Pazopanib","volume":"48","author":"Miyamoto","year":"2018","journal-title":"Jpn. J. Clin. Oncol."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"2036","DOI":"10.1056\/NEJMoa2103425","article-title":"Belzutifan for Renal Cell Carcinoma in von Hippel\u2013Lindau Disease","volume":"385","author":"Jonasch","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/j.ejso.2021.10.022","article-title":"Multimodal image-guided ablation on management of renal cancer in Von-Hippel-Lindau syndrome patients from 2004 to 2021 at a specialist centre: A longitudinal observational study","volume":"48","author":"Chan","year":"2022","journal-title":"Eur. J. Surg. Oncol."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1227\/NEU.0b013e31828ba793","article-title":"Hemangioblastomas and neurogenic polyglobulia","volume":"72","author":"Klingler","year":"2013","journal-title":"Neurosurgery"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"880","DOI":"10.3171\/2019.5.SPINE1975","article-title":"Minimally invasive resection of spinal hemangioblastoma: Feasibility and clinical results in a series of 18 patients","volume":"31","author":"Steiert","year":"2019","journal-title":"J. Neurosurg. Spine"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1016\/j.jaad.2012.12.950","article-title":"Dermatologic manifestations of ataxia-telangiectasia syndrome","volume":"68","author":"Greenberger","year":"2013","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1007\/s12311-018-0990-x","article-title":"Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia","volume":"18","author":"Tang","year":"2019","journal-title":"Cerebellum"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1007\/s00415-019-09641-1","article-title":"Classic ataxia-telangiectasia: The phenotype of long-term survivors","volume":"267","author":"Weemaes","year":"2020","journal-title":"J. Neurol."},{"key":"ref_102","first-page":"e39346","article-title":"Ataxia-Telangiectasia: A Case Report and a Brief Review","volume":"15","author":"Sirajwala","year":"2023","journal-title":"Cureus"},{"key":"ref_103","unstructured":"Riboldi, G.M., Samanta, D., and Frucht, S. (2023, December 10). Ataxia Telangiectasia, StatPearls [Internet], Available online: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK519542\/."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"e465","DOI":"10.1038\/bcj.2016.69","article-title":"ATM function and its relationship with ATM gene mutations in chronic lymphocytic leukemia with the recurrent deletion (11q22.3\u201323.2)","volume":"6","author":"Jiang","year":"2016","journal-title":"Blood Cancer J."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1111\/pai.13020","article-title":"Ataxia-telangiectasia: A review of clinical features and molecular pathology","volume":"30","author":"Amirifar","year":"2019","journal-title":"Pediatr. Allergy Immunol."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"146","DOI":"10.15430\/JCP.2019.24.3.146","article-title":"Effect of the Interaction Between Selenium and Zinc on DNA Repair in Association with Cancer Prevention","volume":"24","author":"Yildiz","year":"2019","journal-title":"J. Cancer Prev."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/s13045-019-0733-6","article-title":"Ataxia telangiectasia and Rad3-related inhibitors and cancer therapy: Where we stand","volume":"12","author":"Mei","year":"2019","journal-title":"J. Hematol. Oncol."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/s13023-016-0543-7","article-title":"Ataxia telangiectasia: A review","volume":"11","author":"Wright","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_109","doi-asserted-by":"crossref","unstructured":"Cavone, F., Cappelli, S., Bonuccelli, A., D\u2019Elios, S., Costagliola, G., Peroni, D., Orsini, A., and Consolini, R. (2023). Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis. J. Clin. Med., 12.","DOI":"10.3390\/jcm12186041"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"bcr2012007246","DOI":"10.1136\/bcr-2012-007246","article-title":"Ataxia telangiectasia: Learning from previous mistakes","volume":"2012","author":"Kumar","year":"2012","journal-title":"BMJ Case Rep."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"e1409","DOI":"10.1002\/mgg3.1409","article-title":"Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia\u2013telangiectasia mutated gene)","volume":"8","author":"Asadollahi","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"779502","DOI":"10.3389\/fimmu.2021.779502","article-title":"Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature","volume":"12","author":"Shad","year":"2021","journal-title":"Front. Immunol."},{"key":"ref_113","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Bean, L.J. (2023, December 10). Ataxia-Telangiectasia, GeneReviews\u00ae [Internet], Available online: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK26468\/."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/S1071-9091(03)00026-3","article-title":"Ataxia-telangiectasia: Diagnosis and treatment","volume":"10","author":"Perlman","year":"2003","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1038\/336577a0","article-title":"Localization of an ataxia-telangiectasia gene to chromosome 11q22\u201323","volume":"336","author":"Gatti","year":"1988","journal-title":"Nature"},{"key":"ref_116","doi-asserted-by":"crossref","unstructured":"Paucar, M., Taylor, A.M., Hadjivassiliou, M., Fogel, B.L., and Svenningsson, P. (2019). Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature. Tremor Other Hyperkinetic Mov., 9.","DOI":"10.5334\/tohm.486"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1111\/cei.12262","article-title":"Immune deficiency in Ataxia-Telangiectasia: A longitudinal study of 44 patients","volume":"176","author":"Chopra","year":"2014","journal-title":"Clin. Exp. Immunol."},{"key":"ref_118","first-page":"1","article-title":"Parents can accurately observe the severity of respiratory illness in their infants born term and preterm","volume":"214","author":"Long","year":"2019","journal-title":"J. Pediatr."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1111\/ene.12024","article-title":"Betamethasone therapy in ataxia telangiectasia: Unraveling the rationale of this serendipitous observation on the basis of the pathogenesis","volume":"20","author":"Giardino","year":"2013","journal-title":"Eur. J. Neurol."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"19386","DOI":"10.1038\/s41598-023-46332-4","article-title":"Expression of a large coding sequence: Gene therapy vectors for Ataxia Telangiectasia","volume":"13","author":"Hirch","year":"2023","journal-title":"Sci. Rep."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.2147\/JMDH.S295486","article-title":"Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives","volume":"14","author":"Wright","year":"2021","journal-title":"J. Multidiscip. Healthc."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"E103","DOI":"10.1097\/PEP.0000000000000813","article-title":"Effectiveness of Physical Therapy on Ataxia-Telangiectasia: A Case Report","volume":"33","author":"Unes","year":"2021","journal-title":"Pediatr. Phys. Ther."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1002\/mds.25126","article-title":"A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia","volume":"27","author":"Zannolli","year":"2012","journal-title":"Mov. Disord."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.ncl.2020.01.008","article-title":"An Overview of the Current State and the Future of Ataxia Treatments","volume":"38","author":"Kwei","year":"2020","journal-title":"Neurol. Clin."},{"key":"ref_125","doi-asserted-by":"crossref","unstructured":"Sabino Pinho de Oliveira, B., Putti, S., Naro, F., and Pellegrini, M. (2020). Bone Marrow Transplantation as Therapy for Ataxia-Telangiectasia: A Systematic Review. Cancers, 12.","DOI":"10.3390\/cancers12113207"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1038\/s41586-023-06277-0","article-title":"A framework for individualized splice-switching oligonucleotide therapy","volume":"619","author":"Kim","year":"2023","journal-title":"Nature"},{"key":"ref_127","unstructured":"Macri, A., Wilson, A.M., Shafaat, O., and Sharma, S. (2023, December 10). Osler-Weber-Rendu Disease, StatPearls [Internet], Available online: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK482361\/."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1182\/hematology.2021000281","article-title":"Hereditary hemorrhagic telangiectasia (HHT): A practical guide to management","volume":"2021","author":"Hammill","year":"2021","journal-title":"Hematol. Am. Soc. Hematol. Educ. Program"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.pcl.2020.09.009","article-title":"Pulmonary Manifestations of Skin Disorders in Children","volume":"68","author":"Cohen","year":"2020","journal-title":"Pediatr. Clin. N. Am."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1111\/ijd.16320","article-title":"Skin and mucosal telangiectatic lesions in hereditary hemorrhagic telangiectasia patients","volume":"61","author":"Hyldahl","year":"2022","journal-title":"Int. J. Dermatol."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"2612544","DOI":"10.1155\/2022\/2612544","article-title":"Diffuse Cerebral Edema and Impending Herniation Complicating Hepatic Encephalopathy in Hereditary Hemorrhagic Telangiectasia","volume":"2022","author":"Mylavarapu","year":"2022","journal-title":"Case Rep. Med."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1177\/1358863X231151731","article-title":"Multidisciplinary coordinated care of hereditary hemorrhagic telangiectasia (Osler\u2013Weber\u2013Rendu disease)","volume":"28","author":"Alkhalid","year":"2023","journal-title":"Vasc. Med."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1182\/blood.2020008739","article-title":"Hereditary hemorrhagic telangiectasia: Systemic therapies, guidelines, and an evolving standard of care","volume":"137","year":"2021","journal-title":"Blood"}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/6\/1648\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:13:03Z","timestamp":1760105583000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/6\/1648"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,13]]},"references-count":133,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,3]]}},"alternative-id":["jcm13061648"],"URL":"https:\/\/doi.org\/10.3390\/jcm13061648","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,13]]}}}