Certain skeletal defects may develop in neurofibromatosis type 1 (NF1), a common tumor-suppressor syndrome, such as cranial lesions confined to the lambdoid suture region. Here, we report on the repair of osseous defects of occipital bone in a NF1 patient with history of skull trauma and tumorous hemorrhage. Computer-aided design and computer-aided manufacturing (CAD/CAM)-assisted devices were applied to safely close the bone defects. The variable phenotype of NF1 in the occipital skull region is discussed and a brief review is presented on NF1-related therapies for tumors and malformations of the occipitoparietal skull region.
GutmannDHFernerREListernickRHKorfBRWoltersPLJohnsonKJNeurofibromatosis type 1Nat Rev Dis Primers2017317004
2.
ChernoffKASchafferJVCutaneous and ocular manifestations of neurocutaneous syndromesClin Dermatol20163402183–204
3.
JoffeNCalcarial bone defects involving the lambdoid suture in neurofibromatosisBr J Radiol19653823–27
4.
ArringtonDKDanehyARPeleggiAProctorMRIronsMBUllrichNJCalvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1J Neurosurg Pediatr20131104410–416
5.
DavidsonKCCranial and intracranial lesions in neurofibromatosisAm J Roentgenol Radium Ther Nucl Med19669803550–556
6.
HandaJKoyamaTShimizuYYonedaSSkull defect involving the lambdoid suture in neurofibromatosisSurg Neurol1975303119–121
7.
WeberKGrauthoffHJDefect of lambda suture: typical change in Recklinghausen's neurofibromatosis [in German]Fortschr Geb Rontgenstr Nuklearmed197311802230–231
8.
OhaegbulamSC“Congenital” plexiform neurofibroma of the occipital scalp. Case reportJ Neurosurg19774602245–247
9.
MannHKozicZMedinillaORComputed tomography of lambdoid calvarial defect in neurofibromatosis. A case reportNeuroradiology19832503175–176
10.
SolankiCRamachandranSDeviBISharmaRCalvarial defects in the region of the lambdoid suture in neurofibromatosis type-1 patientsJ Pediatr Neurosci2015100122–24
11.
RenshawABorsettiMNelsonRJOrlandoAMassive plexiform neurofibroma with associated meningo-encephalocoele and occipital bone defect presenting as a cervical massBr J Plast Surg20035605514–517
12.
DadlaniRSadanandVGhosalNHegdeASCongenital giant plexiform neurofibroma with occipital calvarial dysplasia in association with meningoencephalocele in neurofibromatosis Type 1 and segmental neurofibromatosis: report of 2 casesJ Neurosurg Pediatr20131205458–464
13.
HelmholzHRCushingHElephantiasis nervorum of the scalp, a manifestation of Von Recklinghausen's diseaseAm J Med Sci1906132355–378
14.
ShackRBReilleyAFLynchJBNeurofibromas of the head and neckSouth Med J19857807801–804
15.
MislowJMProctorMRMcNeelyPDGreeneAKRogersGFCalvarial defects associated with neurofibromatosis type 1. Report of two casesJ Neurosurg2007106(6, Suppl): 484–489
16.
IsmailNJShehuBBLasseiniA, et al. Solitary giant neurofibroma of the scalp with calvarial defect in a childJ Surg Tech Case Rep201020124–26
17.
SahaMMAgarwalKNBhardwajOPCalvarial bone defects in neurofibromatosisAm J Roentgenol Radium Ther Nucl Med196910502319–321
18.
KankaneVKJaiswalGGuptaTKCongenital extra calvarial plexiform neurofibroma in occipito-cervical region with occipital bone defect with neurofibromatosis type 1 and segmental neurofibromatosis: case report and review of literatureJ Pediatr Neurosci20161104295–297
19.
MohamedKNNeurofibromatosis and multiple skull defects: a case reportSingapore Med J19862705450–452
20.
SheikhBYHuge occipital myxomatous plexiform neurofibroma in the absence of neurofibromatosisNeurosciences (Riyadh)2003803195–197
21.
KumarSChaurasiaPSinghDBatraVVAherRSolitary giant diffuse neurofibroma of the scalp with calvarial defectAsian J Neurosurg20171202263–265
22.
MarounFBJacobJCMarkesteynPHMercerDRCongenital venous malformation of the scalp associated with plexiform neurofibroma and cranial defect. Case reportJ Neurosurg19693104465–467
23.
KurimotoMMizumakiYFukudaOHayashiNKuwayamaNEndoSGiant plexiform neurofibroma and suboccipital meningocele manifesting as segmental neurofibromatosisNeurol Med Chir (Tokyo)20084806271–274
24.
RangarajanVMahoreAPatilM, et al. Brain herniation in neurofibromatosis with dysplasia of occipital bone and posterior skull baseCase Rep Neurol Med20152015816079
25.
DuchateauJLejourMNeurofibromatose du scalp associée à une aplasie osseuse occipitale [in French]Ann Chir Plast Esthet1986310173–78
26.
KurimotoMHirashimaYHayashiN, et al. Suboccipital meningocele presenting as a huge retropharyngeal mass in a patient with neurofibromatosis Type 1. Case reportJ Neurosurg19999103503–505
27.
ScottMMassive plexiform neurofibroma of the occipital scalp. Case reportJ Neurosurg1966250181–82
28.
HeineJüber ungewöhnliche Missbildungen bei NeurofbromatoseBeitr Pathol Anat192778122–159
29.
OpitzHPetersenDHeissEDuffnerFMeyermannRGiant cell tumor of the occipital bone in a case of von Recklinghausen neurofibromatosisClin Neuropathol19961504226–230
30.
SimsekEYavuzCUstundagNAtypical meningioma and extensive calvarium defects in neurofibromatosis type 1Pediatr Radiol20033308551–553
31.
BarnowskyLDalalRLacunarlike skull in neurofibromatosisAJNR Am J Neuroradiol199011061253
32.
LamSKuetherJFongAReidRCranioplasty for large-sized calvarial defects in the pediatric population: a reviewCraniomaxillofac Trauma Reconstr2015802159–170
33.
SawadaYHemorrhage into a plexiform neurofibroma induced by trauma: a rare complication of von Recklinghausen's diseaseJ Dermatol19871404378–381
34.
TungTCChenYRChenKTChenCTBendor-SamuelRMassive intratumor hemorrhage in facial plexiform neurofibromaHead Neck19971902158–162
35.
TsutsumiMKazekawaKTanakaA, et al. Rapid expansion of benign scalp neurofibroma caused by massive intratumoral hemorrhage–case reportNeurol Med Chir (Tokyo)20024208338–340
36.
KwakSWHanYMParkYSDiffuse neurofibroma presenting with spontaneous intra-tumoral hemorrhageJ Korean Neurosurg Soc200639459–463
37.
EufingerHWehmöllerMMachtensEHeuserLHardersAKruseDReconstruction of craniofacial bone defects with individual alloplastic implants based on CAD/CAM-manipulated CT-dataJ Craniomaxillofac Surg19952303175–181
38.
EickhoffUFischerWEine seltene kombinierte Dysplasie bei der Neurofibromatosis RecklinghausenFortschr Röntgenstr1972116776–781
39.
WakutaYMitaniTGiant epicranial neurofibroma–case reportNeurol Med Chir (Tokyo)19882807690–694
