Zusammenfassung
Die Neurofibromatosen (NF) zählen zur Gruppe der Phakomatosen. Sie werden definiert als Erkrankungen mit pathologisch veränderten Hüllzellen des peripheren Nervensystems. Die beiden wichtigsten Formen, NF Typ I (NF1) und NF Typ II (NF2) sind autosomal vererbbare Krankheiten mit einer Prädisposition zur Entwicklung von Neubildungen. Der vorliegende Beitrag beschreibt beide Entitäten und gibt eine kurze Übersicht über die Differenzialdiagnose der Neurofibromatosen sowie die speziellen Aspekte der mund-, kiefer- und gesichtschirurgischen Therapieoptionen.
Abstract
Neurofibromatoses (NF) belong to the group of phakomatoses and are defined as diseases with pathologically altered nerve sheath cells of the peripheral nervous system. The two most important forms NF type 1 (NF1) and NF type 2 (NF2) are autosomal inherited diseases with a predisposition to develop neoplasms. The article gives a short review about the diagnosis of neurofibromatoses with special reference to the therapeutic options provided by oral and maxillofacial surgeons.
Literatur
Angel MF, Persing JA, Edgerton MT (1994) Reconstructive surgery for neurofibromatosis. In: Huson SM, Hughes RAC (eds) The neurofibromatoses. A pathogenetic and clinical overview. Chapman & Hall, London, pp 331–354
Becker DW jr (1991) Use of the carbon dioxide laser in treating multiple cutaneous neurofibromas. Ann Plast Surg 26:582–586
Beert E, Brems H, Daniëls B et al (2011) Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors. Genes Chromosomes Cancer 50:1021–1032
Bruns P (1891) Über das Rankenneurom. Beitr Klin Chir 8:1–4
Crowe FW (1964) Axillary freckling as a diagnostic aid in neurofibromatosis. Ann Intern Med 61:1142–1143
Crowe FW, Schull WJ, Neel JV (1956) A clinical, pathological, and genetic study of multiple neurofibromatosis. Thomas, Springfield
D’Ambrosio JA, Langlais RP, Young RS (1988) Jaw and skull changes in neurofibromatosis. Oral Surg 66:391–396
DiMario FJ, Bowers P, Jagjivan B et al (1993) Analysis of skull anthropometric measurements in patients with neurofibromatosis type 1. Invest Radiol 28:116–120
Evans DG, Baser ME, McGaughran J et al (2002) Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 39:311–314
Evans DG, Huson SM, Donnai D et al (1992) A clinical study of type 2 neurofibromatosis. Q J Med 84:603–618
Feng Y, Yang ZG, Chen T et al (2010) Giant plexiform neurofibroma with hemorrhage in cranio-maxillofacial region as depicted on CT and MRI. Eur J Med Res 15:84–87
Ferner RE, Gutmann D (2002) International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis 1. Cancer Res 62:1573–1577
Ferner RE, Lucas JD, O’Doherty MJ et al (2000) Evaluation of (18)fluorodeoxyglucose positron emission tomography ([18]FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1. J Neurol Neurosurg Psychiatry 68:353–357
Friedrich RE (2010) Maxillofaziale und orale Neurofibromatose Typ 1. Shaker, Aachen
Friedrich RE, Gehrke G, Giese M et al (1998) Tumorreduktion plexiformer Neurofibrome im kraniofazialen und Halsbereich. Mund Kiefer GesichtsChir 2(Suppl 1):86–90
Friedrich RE, Gehrke G, Hellner D et al (1997) Tumorreduktion plexiformer Neurofibrome der Schädelbasis, der periorbitalen Region, der Lider und des Halses bei Neurofibromatose Typ 1. In: Rochels R (Hrsg) Orbita-Chirurgie. Verhandlungen des 3. Workshops der Deutschen Gesellschaft für Schädelbasischirurgie in Kiel, 10.–11.11.1996). Einhorn, Reinbek, S 171–176
Friedrich RE, Giese M, Mautner VF et al (2002) Fehlbildungen der Kieferhöhle bei Neurofibromatose Typ 1. Mund Kiefer GesichtsChir 6:363–367
Friedrich RE, Giese M, Schmelzle R (1995) Dentoalveoläre Veränderungen bei Neurofibromatose Typ 1. Dtsch Z Mund Kiefer Gesichtschir 19:273–276
Friedrich RE, Giese M, Schmelzle R et al (2003) Jaw malformations plus displacemet and numerical aberrations of teeth in neurofibromatosis type 1: a descriptive analysis of 48 patients based on panoramic radiographs and oral findings. J Craniomaxillofac Surg 31:1–9
Friedrich RE, Hartmann M, Mautner VF (2007) Malignant peripheral nerve sheath tumors (MPNST) in NF1-affected children. Anticancer Res 27:1957–1960
Friedrich RE, Heiland M, Kehler V, Schmelzle R (2003) Reconstruction of sphenoid wing dysplasia with pulsating exophthalmos in a case of neurofibromatosis type 1 supported by intraoperative navigation using a new skull reference system. Skull Base 13:211–217
Friedrich RE, Holstein AF, Middendorff R, Davidoff MS (2012) Vascular wall cells contribute to tumourigenesis in cutaneous neurofibromas of patients with neurofibromatosis type 1. A comparative histological, ultrastructural and immunohistochemical study. Anticancer Res 32:2139–2158
Friedrich RE, Korf B, Mautner VF (2003) Growth type of plexiform neurofibromas in NF1 determined on magnetic resonance images. Anticancer Res 23:949–952
Friedrich RE, Mautner VF, Scheuer HA (2007) Loss of heterocygosity (LOH) in a giant cell granuloma of the jaw in NF1. Anticancer Res 27:2079–2083
Friedrich RE, Schmelzle R, Hartmann M, Mautner VF (2005) Subtotal and total resection of superficial plexiform neurofibromas of face and neck: four case reports. J Craniomaxillofac Surg 33:55–60
Friedrich RE, Stelljes C, Hagel C et al (2010) Dysplasia of the orbit and adjacent bone associated with plexiform neurofibroma and ocular disease in 42 NF-1 patients. Anticancer Res 30:1751–1764
Gutmann DH, Aylsworth A, Carey JC et al (1997) The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. J Am Med Assoc 278:51–57
Hagel C, Behrens T, Prehm P et al (2012) Hyaluronan in intra-operative edema of NF1-associated neurofibromas. Neuropathol 32:406–414
Hagel C, Zils U, Peiper M et al (2007) Histopathology and clinical outcome of NF1-associated vs. sporadic malignant peripheral nerve sheath tumors. J Neurooncol 82:187–192
Härtel J (1974) Neurofibromatose und maligne Entartung im Kiefer-Gesichtsbereich. Dtsch Gesundheitswesen 29:790–792
Hivelin M, Wolkenstein P, Lepage C et al (2010) Facial aesthetic unit remodeling procedure for neurofibromatosis type 1 hemifacial hypertrophy: report on 33 consecutive adult patients. Plast Reconstr Surg 125:1197–1207
Hoeve J van der (1933) Les phakomatoses de Bourneville, de von Recklinghausen et de von Hippel-Lindau. J Belg Neurol Psychiatr 33:752–762
Horch HH, Herzog M, Féaux de Lacroix W (1988) Diagnostische und therapeutische Aspekte beim malignen epitheloiden Schwannom. Dtsch Z Mund Kiefer Gesichtschir 12:372–375
Huson SM, Clark D, Compston DAS, Harper PS (1989) A genetic study of von Recklinghausen neurofibromatosis in South East Wales. I: Prevalence, fitness, mutation rate and effect of parental transmission on severity. J Med Genet 26:704–711
Jackson IT, Carbonnel A, Potparic Z, Shaw K (1993) Orbitotemporal neurofibromatosis: classification and treatment. Plast Reconstr Surg 92:1–11
Jakobiec FA, Font RL, Zimmerman LE (1985) Malignant peripheral nerve sheath tumors of the orbit: a clinico-pathologic study of eight cases. Trans Am Ophthalmol Soc 83:332–366
Jaremko JL, MacMahon PJ, Torriani M et al (2012) Whole-body MRI in neurofibromatosis: incidental findings and prevalence of scoliosis. Skeletal Radiol 41:917–923
Kärcher H, Schultes G (2007) Mikronervenchirurgie im Mund-, Kiefer- und Gesichtsbereich. In: Horch HH (Hrsg) Mund-Kiefer-Gesichtschirurgie. Urban & Fischer, München, S 368–385
Keutel C, Vees B, Krimmel M et al (1997) Orale, faziale und kraniale Manifestationen der Neurofibromatose von Recklinghausen (NF). Mund Kiefer GesichtsChir 1:268–271
Koch H (1983) Die Elephantiasis neurofibromatosa des Gesichts. Operative Korrekturmöglichkeiten. Dtsch Z Mund Kiefer Gesichtschir 7:204–207
Korf B (2000) Malignancy in neurofibromatosis type 1. Oncologist 5:477–485
Krone W, Kehrer-Sawatzki H (2001) Neurofibromatosen. In: Ganten D, Ruckpaul K (Hrsg) Hereditäre Tumorerkrankungen. Springer, Berlin Heidelberg New York, S 88–234
Lammert M, Friedman JM, Kluwe L, Mautner VF (2005) Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol 141:71–74
Legius E, Marchuk DA, Collins FS, Glover TW (1993) Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet 3:122–126
MacCollin M, Chiocca EA, Evans DG et al (2005) Diagnostic criteria for schwannomatosis. Neurology 64:1838–1845
Mautner VF, Friedrich RE, Deimling A von et al (2003) Malignant peripheral nerve sheath tumors in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma. Neuroradiol 45:618–625
Mautner VF, Hartmann M, Kluwe L et al (2006) MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiol 48:160–165
Miyawaki T, Billings B, Har-Shai Y et al (2007) Multicenter study of wound healing in neurofibromatosis and neurofibroma. J Craniofac Surg 18:1008–1011
Naber U, Friedrich RE, Glatzel M et al (2011) Podoplanin and CD34 in peripheral nerve sheath tumours: focus on neurofibromatosis 1-associated atypical neurofibroma. J Neurooncol 103:239–245
Nam SI, Linthicum FH jr, Merchant SN (2011) Temporal bone histopathology in neurofibromatosis type 2. Laryngoscope121:1548–1554
National Institute of Health (1988) Consensus Development Conference Neurofibromatosis. Conference statement. Arch Neurol 45:575–578
Opocher E, Kremer LC, Da Dalt L et al (2006) Prognostic factors for progression of childhood optic pathway glioma: a systematic review. Eur J Cancer 42:1807–1816
Pasmant E, Sabbagh A, Hanna N et al (2009) SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet 46:425–430
Recklinghausen FD von (1882) Über die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen. Hirschwald, Berlin
Riccardi VM (1992) Neurofibromatosis. Phenotype, natural history, and pathogenesis, 2nd edn. Hopkins University Press, Baltimore
Rodriguez FJ, Stratakis CA, Evans DG (2012) Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes. Acta Neuropathol 123:349–367
Sailer HF (1973) Mandibular asymmetry associated with perimandibular hemangiomas. J Maxillofac Surg 1:104–109
Sailer HF, Künzler A, Makek MS (1988) Neurofibrohämangiomatöse Weichteilveränderungen mit pathognomonischer Unterkieferdeformität. In: Schwenzer N, Pfeifer G (Hrsg) Fortschritte der Kiefer- und Gesichtschirurgie, Bd 33. Thieme, Stuttgart, S 84–86
Sander A, Dörrler J, Gräfin von Einsiedel H, Horch HH (1989) Über eine seltene Kombination von Neurofibromatose und Dandy-Walker-Syndrom. Dtsch Z Mund Kiefer Gesichtschir 13:429–432
Scheithauer BW, Woodrruff JM, Erlandson RA (eds) (1999) Tumors of the peripheral nervous system. Atlas of tumor pathology. Armed Forces Institute of Pathology, Washington DC, pp 105–218
Schnabel C, Jett K, Friedman JM et al (2012) Effect of vitamin D(3) treatment on bone density in neurofibromatosis 1 patients: a retrospective clinical study. Joint Bone Spine (Epub ahead of print)
Seitz S, Schnabel C, Busse B et al (2010) High bone turnover and accumulation of osteoid in patients with neurofibromatosis 1. Osteoporos Int 21:119–127
Short PM, Martuza RL and Huson SM (1994) Neurofibromatosis 2: clinical features, genetic counselling and management issues. In: Huson SM, Hughes RAC (eds) The neurofibromatoses. Chapman & Hall, London, pp 414–444
Stevenson DA, Viskochil DH, Carey JC (2007) Neurofibromatosis type 1 is a genetic skeletal disorder. Am J Med Genet A 143:2082–2083
Tauber S (1905) Haemangioma cavernosum venosum capitis. Wien Klin Wschr 19:938–940
Waggoner DJ, Towbin J, Gottesman G, Gutmann DH (2000) Clinic-based study of plexiform neurofibromas in neurofibromatosis 1. Am J Med Genet 92:132–135
Westerhof W, Delleman JW, Wolters EC, Dijkstra P (1984) Neurofibromatosis and hypertelorism. Arch Dermatol 120:1579–1581
Wiestler OD, Radner H (1994) Pathology of neurofibromatosis 1 and 2. In: Huson SM, Hughes RAC (eds) The neurofibromatoses. A pathogenetic and clinical overview. Chapman & Hall, London, pp 136–159
Wimmer K (2005) Neurofibromatose: das häufigste erbliche Tumorprädispositionssyndrom. Wien Med Wochenschr 155:273–280
Yoshida Y, Sato N, Furumura M, Nakayama J (2007) Treatment of pigmented lesions of neurofibromatosis 1 with intense pulsed-radio frequency in combination with topical application of vitamin D3 ointment. J Dermatol 34:227–230
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Friedrich, R. Neurofibromatosen: ein Überblick. MKG-Chirurg 6, 23–35 (2013). https://doi.org/10.1007/s12285-012-0331-x
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DOI: https://doi.org/10.1007/s12285-012-0331-x