Zusammenfassung
Dieses Kapital befasst sich mit relevanten Aspekten der Transition von Patienten mit neurokutanen Syndromen von der pädiatrischen in die Erwachsenenbetreuung, mit Schwerpunkt auf den multidisziplinären Ansatz, Behandlung, pharmakologischer Therapie sowie Krankheitskonzept, soziale Aspekte, Integrationsthemen und Lebensqualität.
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Change history
02 September 2023
An erratum has been published.
Literatur
Agar G, Brown C, Sutherland D, Coulborn S, Oliver C, Richards C (2021) Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile. Mol Autism 12(1):18. https://doi.org/10.1186/s13229-021-00426-w
Amin S, Mallick AA, Lux A, O’Callaghan F (2019) Quality of life in patients with Tuberous Sclerosis Complex (TSC). Eur J Paediatr Neurol 23(6):801–807. https://doi.org/10.1016/j.ejpn.2019.09.006
Baudou E, Nemmi F, Biotteau M, Maziero S, Peran P, Chaix Y (2019) Can the cognitive phenotype in neurofibromatosis type 1 (NF1) be explained by neuroimaging? A review. Front Neurol 10:1373. https://doi.org/10.3389/fneur.2019.01373
Bergqvist C, Wolkenstein P (2021) MEK inhibitors in RASopathies. Curr Opin Oncol 33(2):110–119. https://doi.org/10.1097/cco.0000000000000711
Bergqvist C, Servy A, Valeyrie-Allanore L, Ferkal S, Combemale P, Wolkenstein P (2020) Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966. Orphanet J Rare Dis 15(1):37. https://doi.org/10.1186/s13023-020-1310-3
Bianchi F, Auricchio AM, Battaglia DI, Chieffo DRP, Massimi L (2020) Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons. Childs Nerv Syst 36(10):2553–2570. https://doi.org/10.1007/s00381-020-04695-3
Bissler JJ, Kingswood JC, Radzikowska E, Zonnenberg BA, Frost M, Belousova E, … Budde K (2013) Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet 381(9869):817–824. https://doi.org/10.1016/S0140-6736(12)61767-X
Bissler JJ, Kingswood JC, Radzikowska E, Zonnenberg BA, Belousova E, Frost MD, … Budde K (2017) Everolimus long-term use in patients with tuberous sclerosis complex: four-year update of the EXIST-2 study. PLoS One 12(8):e0180939. https://doi.org/10.1371/journal.pone.0180939
Bodemer C, Diociaiuti A, Hadj-Rabia S, Robert MP, Desguerre I, Manière MC, … Steffann J (2020) Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti. J Eur Acad Dermatol Venereol 34(7):1415–1424. https://doi.org/10.1111/jdv.16403
Chiang YZ, Al-Niaimi F, Ferguson J, August PJ, Madan V (2012) Carbon dioxide laser treatment of cutaneous neurofibromas. Dermatol Ther (Heidelb) 2(1):7. https://doi.org/10.1007/s13555-012-0007-5
Chu-Shore CJ, Major P, Camposano S, Muzykewicz D, Thiele EA (2010) The natural history of epilepsy in tuberous sclerosis complex. Epilepsia 51(7):1236–1241. https://doi.org/10.1111/j.1528-1167.2009.02474.x
Comi A (2015a) Current therapeutic options in Sturge-Weber syndrome. Semin Pediatr Neurol 22(4):295–301. https://doi.org/10.1016/j.spen.2015.10.005
Comi AM (2015b) Sturge-Weber syndrome. Handb Clin Neurol 132:157–168. https://doi.org/10.1016/b978-0-444-62702-5.00011-1
Crino PB (2015) mTOR signaling in epilepsy: insights from malformations of cortical development. Cold Spring Harb Perspect Med 5(4). https://doi.org/10.1101/cshperspect.a022442
Crino PB, Nathanson KL, Henske EP (2006) The tuberous sclerosis complex. N Engl J Med 355(13):1345–1356. https://doi.org/10.1056/NEJMra055323
De la Torre AJ, Luat AF, Juhász C, Ho ML, Argersinger DP, Cavuoto KM, … Loeb JA (2018) A multidisciplinary consensus for clinical care and research needs for Sturge-Weber syndrome. Pediatr Neurol 84:11–20. https://doi.org/10.1016/j.pediatrneurol.2018.04.005
Ding Y, Wang J, Zhou Y, Yu L, Zhang L, Zhou S, Wang Y (2021) Quality of life in children with tuberous sclerosis complex: a pediatric cohort study. CNS Neurosci Ther 27(3):280–288. https://doi.org/10.1111/cns.13473
Dombi E, Baldwin A, Marcus LJ, Fisher MJ, Weiss B, Kim A, … Widemann BC (2016) Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas. N Engl J Med 375(26):2550–2560. https://doi.org/10.1056/NEJMoa1605943
Draucker CB, Nutakki K, Varni JW, Swigonski NL (2017) The health-related quality of life of children, adolescents, and young adults with neurofibromatosis type 1 and their families: analysis of narratives. J Spec Pediatr Nurs 22(2). https://doi.org/10.1111/jspn.12174
Duong TA, Sbidian E, Valeyrie-Allanore L, Vialette C, Ferkal S, Hadj-Rabia S, … Wolkenstein P (2011) Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980–2006 in France. Orphanet J Rare Dis 6:18. https://doi.org/10.1186/1750-1172-6-18
Evans DG, Moran A, King A, Saeed S, Gurusinghe N, Ramsden R (2005) Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought. Otol Neurotol 26(1):93–97. https://doi.org/10.1097/00129492-200501000-00016
Evans DGR, Salvador H, Chang VY, Erez A, Voss SD, Schneider KW, … Tabori U (2017) Cancer and central nervous system tumor surveillance in pediatric neurofibromatosis 1. Clin Cancer Res 23(12):e46–e53. https://doi.org/10.1158/1078-0432.Ccr-17-0589
Farschtschi S, Mautner VF, McLean ACL, Schulz A, Friedrich RE, Rosahl SK (2020) The neurofibromatoses. Dtsch Arztebl Int 117(20):354–360. https://doi.org/10.3238/arztebl.2020.0354
Fjær R, Marciniak K, Sundnes O, Hjorthaug H, Sheng Y, Hammarström C, … Selmer KK (2021) A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome. Hum Mol Genet 30(21):1919–1931. https://doi.org/10.1093/hmg/ddab144
Fong CY, Ng K, Kong AN, Ong LC, Rithauddin MA, Thong MK, … Yahya N (2019) Quality of life of children with tuberous sclerosis complex. Arch Dis Child 104(10):972–978. https://doi.org/10.1136/archdischild-2018-316394
Franz DN, Belousova E, Sparagana S, Bebin EM, Frost M, Kuperman R, … Wu JY (2013) Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet 381(9861):125–132
Franz DN, Belousova E, Sparagana S, Bebin EM, Frost MD, Kuperman R, … Jóźwiak S (2016) Long-term use of everolimus in patients with tuberous sclerosis complex: final results from the EXIST-1 study. PLoS One 11(6):e0158476. https://doi.org/10.1371/journal.pone.0158476
French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, … Franz DN (2016) Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet 388(10056):2153–2163. https://doi.org/10.1016/s0140-6736(16)31419-2
Gläsker S, Neumann HPH, Koch CA, Vortmeyer A (2000) Von Hippel-Lindau disease. In: Feingold KR, Anawalt B, Boyce A, Chrousos G, de Herder WW, Dhatariya K, Dungan K, Hershman JM, Hofland J, Kalra S, Kaltsas G, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, Morley JE, New M, Purnell J, Sahay R, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP (Hrsg) Endotext. MDText.com, Inc, South Dartmouth. Copyright © 2000–2022, MDText.com, Inc
Graf A, Landolt MA, Mori AC, Boltshauser E (2006) Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1. J Pediatr 149(3):348–353. https://doi.org/10.1016/j.jpeds.2006.04.025
Granström, S., Friedrich, R. E., Langenbruch, A. K., Augustin, M., & Mautner, V. F. (2014) Influence of learning disabilities on the tumour predisposition syndrome NF1 – survey from adult patients’ perspective. Anticancer Res 34(7):3675-3681
Greene AK, Taber SF, Ball KL, Padwa BL, Mulliken JB (2009) Sturge-Weber syndrome: soft-tissue and skeletal overgrowth. J Craniofac Surg 20(Suppl 1):617–621. https://doi.org/10.1097/SCS.0b013e318192988e
Gross AM, Wolters PL, Dombi E, Baldwin A, Whitcomb P, Fisher MJ, … Widemann BC (2020) Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med 382(15):1430–1442. https://doi.org/10.1056/NEJMoa1912735
Hagen SL, Grey KR, Korta DZ, Kelly KM (2017) Quality of life in adults with facial port-wine stains. J Am Acad Dermatol 76(4):695–702. https://doi.org/10.1016/j.jaad.2016.10.039
Hamer HM, Pfäfflin M, Baier H, Bösebeck F, Franz M, Holtkamp M, … Brandt C (2018) Characteristics and healthcare situation of adult patients with tuberous sclerosis complex in German epilepsy centers. Epilepsy Behav 82:64–67. https://doi.org/10.1016/j.yebeh.2018.03.006
Harmon KA, Day AM, Hammill AM, Pinto AL, McCulloch CE, Comi AM (2019) Quality of life in children with Sturge-Weber syndrome. Pediatr Neurol 101:26–32. https://doi.org/10.1016/j.pediatrneurol.2019.04.004
Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA (2016) Tuberous sclerosis complex. Nat Rev Dis Primers 2:16035. https://doi.org/10.1038/nrdp.2016.35
Higueros E, Roe E, Granell E, Baselga E (2017) Sturge-Weber syndrome: a review. Actas Dermosifiliogr 108(5):407–417. https://doi.org/10.1016/j.ad.2016.09.022
Howell SJ, Hockenhull K, Salih Z, Evans DG (2017) Increased risk of breast cancer in neurofibromatosis type 1: current insights. Breast Cancer (Dove Med Press) 9:531–536. https://doi.org/10.2147/bctt.S111397
Jagtap S, Srinivas G, Harsha KJ, Radhakrishnan N, Radhakrishnan A (2013) Sturge-Weber syndrome: clinical spectrum, disease course, and outcome of 30 patients. J Child Neurol 28(6):725–731. https://doi.org/10.1177/0883073812451326
Jansen AC, Vanclooster S, de Vries PJ, Fladrowski C, Beaure d’Augères G, Carter T, … Kingswood JC (2020) Burden of illness and quality of life in tuberous sclerosis complex: findings from the TOSCA study. Front Neurol 11:904. https://doi.org/10.3389/fneur.2020.00904
Kodra Y, Giustini S, Divona L, Porciello R, Calvieri S, Wolkenstein P, Taruscio D (2009) Health-related quality of life in patients with neurofibromatosis type 1. A survey of 129 Italian patients. Dermatology 218(3):215–220. https://doi.org/10.1159/000187594
Lance EI, Lanier KE, Zabel TA, Comi AM (2014) Stimulant use in patients with sturge-weber syndrome: safety and efficacy. Pediatr Neurol 51(5):675–680. https://doi.org/10.1016/j.pediatrneurol.2013.11.009
Laplante M, Sabatini DM (2009) mTOR signaling at a glance. J Cell Sci 122(Pt 20):3589–3594. https://doi.org/10.1242/jcs.051011
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, … Plotkin SR (2021) Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med 23(8):1506–1513. https://doi.org/10.1038/s41436-021-01170-5
Lin AL, Gutmann DH (2013) Advances in the treatment of neurofibromatosis-associated tumours. Nat Rev Clin Oncol 10(11):616–624. https://doi.org/10.1038/nrclinonc.2013.144
Luat AF, Juhász C, Loeb JA, Chugani HT, Falchek SJ, Jain B, … Pinto A (2019) Neurological complications of Sturge-Weber syndrome: current status and unmet needs. Pediatr Neurol 98:31–38. https://doi.org/10.1016/j.pediatrneurol.2019.05.013
Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR (2019) Health supervision for children with neurofibromatosis type 1. Pediatrics 143(5). https://doi.org/10.1542/peds.2019-0660
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, … Krueger DA (2021) Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol 123:50–66. https://doi.org/10.1016/j.pediatrneurol.2021.07.011
Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, … Kwiatkowski DJ (2020) TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. Genet Med 22(9):1489–1497. https://doi.org/10.1038/s41436-020-0823-4
Page PZ, Page GP, Ecosse E, Korf BR, Leplege A, Wolkenstein P (2006) Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of 176 American cases. Am J Med Genet A 140(18):1893–1898. https://doi.org/10.1002/ajmg.a.31422
Patniyot I, Qubty W (2022) Managing headache disorders associated with tuberous sclerosis and neurofibromatosis. Curr Pain Headache Rep 26(4):281–288. https://doi.org/10.1007/s11916-022-01032-y
Peron A, Vignoli A, La Briola F, Volpi A, Montanari E, Morenghi E, … Canevini MP (2016) Do patients with tuberous sclerosis complex have an increased risk for malignancies? Am J Med Genet A 170(6):1538–1544. https://doi.org/10.1002/ajmg.a.37644
Rietman AB, van Helden H, Both PH, Taal W, Legerstee JS, van Staa A, … van Eeghen AM (2018) Worries and needs of adults and parents of adults with neurofibromatosis type 1. Am J Med Genet A 176(5):1150–1160. https://doi.org/10.1002/ajmg.a.38680
Roach ES (1992) Neurocutaneous syndromes. Pediatr Clin N Am 39(4):591–620. https://doi.org/10.1016/S0031-3955(16)38367-5
Roach ES, Smith M, Huttenlocher P, Bhat M, Alcorn D, Hawley L (1992) Diagnostic criteria: tuberous sclerosis complex. Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association. J Child Neurol 7(2):221–224. https://doi.org/10.1177/088307389200700219
Sabeti S, Ball KL, Bhattacharya SK, Bitrian E, Blieden LS, Brandt JD, … Kelly KM (2021) Consensus statement for the management and treatment of Sturge-Weber syndrome: neurology, neuroimaging, and ophthalmology recommendations. Pediatr Neurol 121:59–66. https://doi.org/10.1016/j.pediatrneurol.2021.04.013
Samuelsson B, Riccardi VM (1989) Neurofibromatosis in Gothenburg, Sweden. III. Psychiatric and social aspects. Neurofibromatosis 2(2):84–106
Sanagoo A, Jouybari L, Koohi F, Sayehmiri F (2019) Evaluation of QoL in neurofibromatosis patients: a systematic review and meta-analysis study. BMC Neurol 19(1):123. https://doi.org/10.1186/s12883-019-1338-y
Sebold AJ, Ahmed AS, Ryan TC, Cohen BA, Jampel HD, Suskauer SJ, … Rybczynski S (2020) Suicide screening in Sturge-Weber syndrome: an important issue in need of further study. Pediatr Neurol 110:80–86. https://doi.org/10.1016/j.pediatrneurol.2020.03.013
Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, … Pevsner J (2013) Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 368(21):1971–1979. https://doi.org/10.1056/NEJMoa1213507
Stafstrom CE, Staedtke V, Comi AM (2017) Epilepsy mechanisms in neurocutaneous disorders: tuberous sclerosis complex, neurofibromatosis type 1, and Sturge-Weber syndrome. Front Neurol 8:87. https://doi.org/10.3389/fneur.2017.00087
Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K (2018) Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 20(7):671–682. https://doi.org/10.1038/gim.2018.28
Sujansky E, Conradi S (1995) Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 57(1):35–45. https://doi.org/10.1002/ajmg.1320570110
Thiele EA, Granata T, Matricardi S, Chugani HT (2014) Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis. Epilepsia 55(Suppl 3):29–33. https://doi.org/10.1111/epi.12722
Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, … Peltonen S (2015) Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol 135(3):904–906. https://doi.org/10.1038/jid.2014.465
Varni JW, Limbers CA, Burwinkle TM (2007) Impaired health-related quality of life in children and adolescents with chronic conditions: a comparative analysis of 10 disease clusters and 33 disease categories/severities utilizing the PedsQL 4.0 Generic Core Scales. Health Qual Life Outcomes 5:43. https://doi.org/10.1186/1477-7525-5-43
Varni JW, Nutakki K, Swigonski NL (2019) Pain, skin sensations symptoms, and cognitive functioning predictors of health-related quality of life in pediatric patients with Neurofibromatosis Type 1. Qual Life Res 28(4):1047–1052. https://doi.org/10.1007/s11136-018-2055-5
Varni JW, Nutakki K, Swigonski NL (2020) Cognitive functioning and pain interference mediate pain predictive effects on health-related quality of life in pediatric patients with Neurofibromatosis Type 1. Eur J Paediatr Neurol 28:64–69. https://doi.org/10.1016/j.ejpn.2020.07.014
Vergeer M, de Ranitz-Greven WL, Neary MP, Ionescu-Ittu R, Emond B, Sheng Duh M, … Zonnenberg BA (2019) Epilepsy, impaired functioning, and quality of life in patients with tuberous sclerosis complex. Epilepsia Open 4(4):581–592. https://doi.org/10.1002/epi4.12365
Waltereit R, Feucht M, de Vries MC, Huemer J, Roessner V, de Vries PJ (2019) [Neuropsychiatric manifestations in Tuberous Sclerosis Complex (TSC): diagnostic guidelines, TAND concept and therapy with mTOR inhibitors]. Z Kinder Jugendpsychiatr Psychother 47(2):139–153. https://doi.org/10.1024/1422-4917/a000604
Wei G, Farooq J, Kumar A (2021) Impact of mind-body treatment interventions on quality of life in neurofibromatosis patients: a systematic review and meta-analysis. Dermatol Ther 34(1):e14613. https://doi.org/10.1111/dth.14613
Wolkenstein P, Zeller J, Revuz J, Ecosse E, Leplège A (2001) Quality-of-life impairment in neurofibromatosis type 1: a cross-sectional study of 128 cases. Arch Dermatol 137(11):1421–1425. https://doi.org/10.1001/archderm.137.11.1421
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Dill, P.E. (2023). Neurokutane Syndrome. In: Weber, P. (eds) Transition bei neurologischen Erkrankungen. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-65724-9_18
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