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==Overview== | ==Overview== | ||
Neurofibroma is a benign [[nerve sheath tumor]] in the [[peripheral nervous system]]. Neurofibroma may be classified into 3 subtypes: localised neurofibroma, diffuse neurofibroma, and [[plexiform neurofibroma]].<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma </ref> On gross pathology, a nonencapsulated superficial [[mass]] is the characteristic finding of localised or diffuse neurofibroma; whereas the "bag of worms" appearance is the characteristic finding of [[plexiform neurofibroma]].<ref name="pmid15486243">{{cite journal |vauthors=Wilkinson LM, Manson D, Smith CR |title=Best cases from the AFIP: plexiform neurofibroma of the bladder |journal=[[Radiographics : a Review Publication of the Radiological Society of North America, Inc]] |volume=24 Suppl 1 |issue= |pages=S237–42 |year=2004 |pmid=15486243 |doi=10.1148/rg.24si035170 |url=http://pubs.rsna.org/doi/10.1148/rg.24si035170?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed |issn= |accessdate=2015-11-13}}</ref> On microscopic histopathological analysis, [[spindle cell]]s with wavy [[nuclei]] without pleomorphism, wire-like [[collagen]], moderate increase of cellularity vis-a-vis normal [[dermis]], and [[mast cells]] are characteristic findings of neurofibroma.<ref name=pmid24216989>{{Cite journal | last1 = Bernthal | first1 = NM. | last2 = Jones | first2 = KB. | last3 = Monument | first3 = MJ. | last4 = Liu | first4 = T. | last5 = Viskochil | first5 = D. | last6 = Randall | first6 = RL. | title = Lost in translation: ambiguity in nerve sheath tumor nomenclature and its resultant treatment effect. | journal = Cancers (Basel) | volume = 5 | issue = 2 | pages = 519-28 | month = | year = 2013 | doi = 10.3390/cancers5020519 | PMID = 24216989 }}</ref><ref name=pmid20233971>{{Cite journal | last1 = Staser | first1 = K. | last2 = Yang | first2 = FC. | last3 = Clapp | first3 = DW. | title = Mast cells and the neurofibroma microenvironment. | journal = Blood | volume = 116 | issue = 2 | pages = 157-64 | month = Jul | year = 2010 | doi = 10.1182/blood-2009-09-242875 | PMID = 20233971 }}</ref> [[Plexiform neurofibroma]] may be caused by the bi-allelic inactivation of the [[neurofibromatosis type I]] tumor suppressor gene.<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma </ref><ref name="pmid7550323">{{cite journal |vauthors=Colman SD, Williams CA, Wallace MR |title=Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene |journal=[[Nature Genetics]] |volume=11 |issue=1 |pages=90–2 |year=1995 |pmid=7550323 |doi=10.1038/ng0995-90 |url=http://dx.doi.org/10.1038/ng0995-90 |issn= |accessdate=2015-11-16}}</ref> Neurofibroma must be differentiated from [[schwannoma]], [[dermatofibrosarcoma protuberans]] (DFSP), [[ganglioneuroma]], and [[melanocytic nevus]].<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma </ref> Neurofibroma usually affects individuals between 20 and 30 years of age.<ref name="pmid15544900">{{cite journal |vauthors=Pilavaki M, Chourmouzi D, Kiziridou A, Skordalaki A, Zarampoukas T, Drevelengas A |title=Imaging of peripheral nerve sheath tumors with pathologic correlation: pictorial review |journal=[[European Journal of Radiology]] |volume=52 |issue=3 |pages=229–39 |year=2004 |pmid=15544900 |doi=10.1016/j.ejrad.2003.12.001 |url=http://linkinghub.elsevier.com/retrieve/pii/S0720048X03003735 |issn= |accessdate=2015-11-13}}</ref> Neurofibroma affects men and women equally.<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma </ref> Symptoms of neurofibroma include soft [[mass]]es, transient [[itching]], and transient [[pain]]. [[Biopsy]] is helpful in the diagnosis of neurofibroma. The predominant therapy for neurofibroma is surgical resection. Adjunctive [[chemotherapy]] and medications may be required. [[Prognosis]] of neurofibroma is generally excellent. If left untreated, 10% of patients with [[plexiform neurofibroma]]s may progress to develop [[malignant peripheral nerve sheath tumor]] (MPNST).<ref name="pmid12898075">{{cite journal |author=Mautner VF, Friedrich RE, von Deimling A, Hagel C, Korf B, Knöfel MT, Wenzel R, Fünsterer C. |title=Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma. |journal=American Journal of Pathology |volume=45 |issue=9 |pages=618–25 |year=2003 |pmid=12898075 |doi=10.1007/s00234-003-0964-6}}</ref> | Neurofibroma is a benign [[nerve sheath tumor]] in the [[peripheral nervous system]]. Neurofibroma may be classified into 3 subtypes: localised neurofibroma, diffuse neurofibroma, and [[plexiform neurofibroma]].<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma Accessed on November 17, 2015 </ref> On gross pathology, a nonencapsulated superficial [[mass]] is the characteristic finding of localised or diffuse neurofibroma; whereas the "bag of worms" appearance is the characteristic finding of [[plexiform neurofibroma]].<ref name="pmid15486243">{{cite journal |vauthors=Wilkinson LM, Manson D, Smith CR |title=Best cases from the AFIP: plexiform neurofibroma of the bladder |journal=[[Radiographics : a Review Publication of the Radiological Society of North America, Inc]] |volume=24 Suppl 1 |issue= |pages=S237–42 |year=2004 |pmid=15486243 |doi=10.1148/rg.24si035170 |url=http://pubs.rsna.org/doi/10.1148/rg.24si035170?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed |issn= |accessdate=2015-11-13}}</ref> On microscopic histopathological analysis, [[spindle cell]]s with wavy [[nuclei]] without pleomorphism, wire-like [[collagen]], moderate increase of cellularity vis-a-vis normal [[dermis]], and [[mast cells]] are characteristic findings of neurofibroma.<ref name=pmid24216989>{{Cite journal | last1 = Bernthal | first1 = NM. | last2 = Jones | first2 = KB. | last3 = Monument | first3 = MJ. | last4 = Liu | first4 = T. | last5 = Viskochil | first5 = D. | last6 = Randall | first6 = RL. | title = Lost in translation: ambiguity in nerve sheath tumor nomenclature and its resultant treatment effect. | journal = Cancers (Basel) | volume = 5 | issue = 2 | pages = 519-28 | month = | year = 2013 | doi = 10.3390/cancers5020519 | PMID = 24216989 }}</ref><ref name=pmid20233971>{{Cite journal | last1 = Staser | first1 = K. | last2 = Yang | first2 = FC. | last3 = Clapp | first3 = DW. | title = Mast cells and the neurofibroma microenvironment. | journal = Blood | volume = 116 | issue = 2 | pages = 157-64 | month = Jul | year = 2010 | doi = 10.1182/blood-2009-09-242875 | PMID = 20233971 }}</ref> [[Plexiform neurofibroma]] may be caused by the bi-allelic inactivation of the [[neurofibromatosis type I]] tumor suppressor gene.<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma Accessed on November 17, 2015 </ref><ref name="pmid7550323">{{cite journal |vauthors=Colman SD, Williams CA, Wallace MR |title=Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene |journal=[[Nature Genetics]] |volume=11 |issue=1 |pages=90–2 |year=1995 |pmid=7550323 |doi=10.1038/ng0995-90 |url=http://dx.doi.org/10.1038/ng0995-90 |issn= |accessdate=2015-11-16}}</ref> Neurofibroma must be differentiated from [[schwannoma]], [[dermatofibrosarcoma protuberans]] (DFSP), [[ganglioneuroma]], and [[melanocytic nevus]].<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma Accessed on November 17, 2015 </ref> Neurofibroma usually affects individuals between 20 and 30 years of age.<ref name="pmid15544900">{{cite journal |vauthors=Pilavaki M, Chourmouzi D, Kiziridou A, Skordalaki A, Zarampoukas T, Drevelengas A |title=Imaging of peripheral nerve sheath tumors with pathologic correlation: pictorial review |journal=[[European Journal of Radiology]] |volume=52 |issue=3 |pages=229–39 |year=2004 |pmid=15544900 |doi=10.1016/j.ejrad.2003.12.001 |url=http://linkinghub.elsevier.com/retrieve/pii/S0720048X03003735 |issn= |accessdate=2015-11-13}}</ref> Neurofibroma affects men and women equally.<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma Accessed on November 17, 2015 </ref> Symptoms of neurofibroma include soft [[mass]]es, transient [[itching]], and transient [[pain]]. [[Biopsy]] is helpful in the diagnosis of neurofibroma. The predominant therapy for neurofibroma is surgical resection. Adjunctive [[chemotherapy]] and medications may be required. [[Prognosis]] of neurofibroma is generally excellent. If left untreated, 10% of patients with [[plexiform neurofibroma]]s may progress to develop [[malignant peripheral nerve sheath tumor]] (MPNST).<ref name="pmid12898075">{{cite journal |author=Mautner VF, Friedrich RE, von Deimling A, Hagel C, Korf B, Knöfel MT, Wenzel R, Fünsterer C. |title=Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma. |journal=American Journal of Pathology |volume=45 |issue=9 |pages=618–25 |year=2003 |pmid=12898075 |doi=10.1007/s00234-003-0964-6}}</ref> | ||
==Classification== | ==Classification== | ||
Neurofibroma may be classified into 3 subtypes: localised neurofibroma, diffuse neurofibroma, and [[plexiform neurofibroma]].<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma </ref> | Neurofibroma may be classified into 3 subtypes: localised neurofibroma, diffuse neurofibroma, and [[plexiform neurofibroma]].<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma Accessed on November 17, 2015 </ref> | ||
==Pathophysiology== | ==Pathophysiology== | ||
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==Causes== | ==Causes== | ||
[[Plexiform neurofibroma]] may be caused by the bi-allelic inactivation of the [[neurofibromatosis type I]] tumor suppressor gene.<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma </ref><ref name="pmid7550323">{{cite journal |vauthors=Colman SD, Williams CA, Wallace MR |title=Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene |journal=[[Nature Genetics]] |volume=11 |issue=1 |pages=90–2 |year=1995 |pmid=7550323 |doi=10.1038/ng0995-90 |url=http://dx.doi.org/10.1038/ng0995-90 |issn= |accessdate=2015-11-16}}</ref> | [[Plexiform neurofibroma]] may be caused by the bi-allelic inactivation of the [[neurofibromatosis type I]] tumor suppressor gene.<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma Accessed on November 17, 2015 </ref><ref name="pmid7550323">{{cite journal |vauthors=Colman SD, Williams CA, Wallace MR |title=Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene |journal=[[Nature Genetics]] |volume=11 |issue=1 |pages=90–2 |year=1995 |pmid=7550323 |doi=10.1038/ng0995-90 |url=http://dx.doi.org/10.1038/ng0995-90 |issn= |accessdate=2015-11-16}}</ref> | ||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
Neurofibroma must be differentiated from [[schwannoma]], [[dermatofibrosarcoma protuberans]] (DFSP), [[ganglioneuroma]], and [[melanocytic nevus]].<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma </ref> | Neurofibroma must be differentiated from [[schwannoma]], [[dermatofibrosarcoma protuberans]] (DFSP), [[ganglioneuroma]], and [[melanocytic nevus]].<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma Accessed on November 17, 2015 </ref> | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
Neurofibroma usually affects individuals between 20 and 30 years of age.<ref name="pmid15544900">{{cite journal |vauthors=Pilavaki M, Chourmouzi D, Kiziridou A, Skordalaki A, Zarampoukas T, Drevelengas A |title=Imaging of peripheral nerve sheath tumors with pathologic correlation: pictorial review |journal=[[European Journal of Radiology]] |volume=52 |issue=3 |pages=229–39 |year=2004 |pmid=15544900 |doi=10.1016/j.ejrad.2003.12.001 |url=http://linkinghub.elsevier.com/retrieve/pii/S0720048X03003735 |issn= |accessdate=2015-11-13}}</ref> Neurofibroma affects men and women equally.<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma </ref> | Neurofibroma usually affects individuals between 20 and 30 years of age.<ref name="pmid15544900">{{cite journal |vauthors=Pilavaki M, Chourmouzi D, Kiziridou A, Skordalaki A, Zarampoukas T, Drevelengas A |title=Imaging of peripheral nerve sheath tumors with pathologic correlation: pictorial review |journal=[[European Journal of Radiology]] |volume=52 |issue=3 |pages=229–39 |year=2004 |pmid=15544900 |doi=10.1016/j.ejrad.2003.12.001 |url=http://linkinghub.elsevier.com/retrieve/pii/S0720048X03003735 |issn= |accessdate=2015-11-13}}</ref> Neurofibroma affects men and women equally.<ref name=radio> Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma Accessed on November 17, 2015 </ref> | ||
==Risk Factors== | ==Risk Factors== | ||
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==Screening== | ==Screening== | ||
According to the the U.S. Preventive Service Task Force (USPSTF), there is insufficient evidence to recommend routine [[screening]] for neurofibroma.<ref>Neurofibroma. U.S. Preventive Service Task Force (USPSTF) 2015. http://www.uspreventiveservicestaskforce.org/BrowseRec/Search?s=neurofibroma </ref> | According to the the U.S. Preventive Service Task Force (USPSTF), there is insufficient evidence to recommend routine [[screening]] for neurofibroma.<ref>Neurofibroma. U.S. Preventive Service Task Force (USPSTF) 2015. http://www.uspreventiveservicestaskforce.org/BrowseRec/Search?s=neurofibroma Accessed on November 17, 2015 </ref> | ||
==Prognosis== | ==Prognosis== | ||
Revision as of 14:59, 18 December 2015
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Neurofibroma Microchapters |
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Neurofibroma overview On the Web |
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American Roentgen Ray Society Images of Neurofibroma overview |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shanshan Cen, M.D. [2]
Overview
Neurofibroma is a benign nerve sheath tumor in the peripheral nervous system. Neurofibroma may be classified into 3 subtypes: localised neurofibroma, diffuse neurofibroma, and plexiform neurofibroma.[1] On gross pathology, a nonencapsulated superficial mass is the characteristic finding of localised or diffuse neurofibroma; whereas the "bag of worms" appearance is the characteristic finding of plexiform neurofibroma.[2] On microscopic histopathological analysis, spindle cells with wavy nuclei without pleomorphism, wire-like collagen, moderate increase of cellularity vis-a-vis normal dermis, and mast cells are characteristic findings of neurofibroma.[3][4] Plexiform neurofibroma may be caused by the bi-allelic inactivation of the neurofibromatosis type I tumor suppressor gene.[1][5] Neurofibroma must be differentiated from schwannoma, dermatofibrosarcoma protuberans (DFSP), ganglioneuroma, and melanocytic nevus.[1] Neurofibroma usually affects individuals between 20 and 30 years of age.[6] Neurofibroma affects men and women equally.[1] Symptoms of neurofibroma include soft masses, transient itching, and transient pain. Biopsy is helpful in the diagnosis of neurofibroma. The predominant therapy for neurofibroma is surgical resection. Adjunctive chemotherapy and medications may be required. Prognosis of neurofibroma is generally excellent. If left untreated, 10% of patients with plexiform neurofibromas may progress to develop malignant peripheral nerve sheath tumor (MPNST).[7]
Classification
Neurofibroma may be classified into 3 subtypes: localised neurofibroma, diffuse neurofibroma, and plexiform neurofibroma.[1]
Pathophysiology
On gross pathology, a nonencapsulated superficial mass is the characteristic finding of localised or diffuse neurofibroma; whereas the "bag of worms" appearance is the characteristic finding of plexiform neurofibroma.[2] On microscopic histopathological analysis, spindle cells with wavy nuclei without pleomorphism, wire-like collagen, moderate increase of cellularity vis-a-vis normal dermis, and mast cells are characteristic findings of neurofibroma.[3][4]
Causes
Plexiform neurofibroma may be caused by the bi-allelic inactivation of the neurofibromatosis type I tumor suppressor gene.[1][5]
Differential Diagnosis
Neurofibroma must be differentiated from schwannoma, dermatofibrosarcoma protuberans (DFSP), ganglioneuroma, and melanocytic nevus.[1]
Epidemiology and Demographics
Neurofibroma usually affects individuals between 20 and 30 years of age.[6] Neurofibroma affects men and women equally.[1]
Risk Factors
There are no established risk factors for neurofibroma.
Screening
According to the the U.S. Preventive Service Task Force (USPSTF), there is insufficient evidence to recommend routine screening for neurofibroma.[8]
Prognosis
Prognosis of neurofibroma is generally excellent. If left untreated, 10% of patients with plexiform neurofibromas may progress to develop malignant peripheral nerve sheath tumor (MPNST).[7]
Staging
There is no established system for the staging of neurofibroma.
Diagnosis
Symptoms
Symptoms of neurofibroma include soft masses, transient itching, and transient pain.
Physical Examination
Physical examination of patients with neurofibroma is usually remarkable for soft masses (internal or superficial).
Laboratory Findings
There are no laboratory findings associated with neurofibroma.
X Ray
There are no X-ray findings associated with neurofibroma.
CT Scan
CT scan may be helpful in the diagnosis of neurofibroma.
MRI
MRI may be helpful in the diagnosis of neurofibroma.
Ultrasound
There are no ultrasound findings associated with neurofibroma.
Other Imaging Findings
There are no other imaging findings associated with neurofibroma.
Other Diagnostic Studies
There are no other diagnostic study findings associated with neurofibroma.
Biopsy
Biopsy is helpful in the diagnosis of neurofibroma.
Treatment
Medical Therapy
The predominant therapy for neurofibroma is surgical resection. Adjunctive chemotherapy and medications may be required.[1]
Surgery
Surgery is the mainstay of treatment for neurofibroma.[1]
Primary Prevention
There is no established method for prevention of neurofibroma.
Secondary Prevention
There are no secondary preventive measures available for neurofibroma.
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 Neurofibroma. Dr Bruno Di Muzio and Dr Maxime St-Amant et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/neurofibroma Accessed on November 17, 2015
- ↑ 2.0 2.1 Wilkinson LM, Manson D, Smith CR (2004). "Best cases from the AFIP: plexiform neurofibroma of the bladder". Radiographics : a Review Publication of the Radiological Society of North America, Inc. 24 Suppl 1: S237–42. doi:10.1148/rg.24si035170. PMID 15486243. Retrieved 2015-11-13.
- ↑ 3.0 3.1 Bernthal, NM.; Jones, KB.; Monument, MJ.; Liu, T.; Viskochil, D.; Randall, RL. (2013). "Lost in translation: ambiguity in nerve sheath tumor nomenclature and its resultant treatment effect". Cancers (Basel). 5 (2): 519–28. doi:10.3390/cancers5020519. PMID 24216989.
- ↑ 4.0 4.1 Staser, K.; Yang, FC.; Clapp, DW. (2010). "Mast cells and the neurofibroma microenvironment". Blood. 116 (2): 157–64. doi:10.1182/blood-2009-09-242875. PMID 20233971. Unknown parameter
|month=ignored (help) - ↑ 5.0 5.1 Colman SD, Williams CA, Wallace MR (1995). "Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene". Nature Genetics. 11 (1): 90–2. doi:10.1038/ng0995-90. PMID 7550323. Retrieved 2015-11-16.
- ↑ 6.0 6.1 Pilavaki M, Chourmouzi D, Kiziridou A, Skordalaki A, Zarampoukas T, Drevelengas A (2004). "Imaging of peripheral nerve sheath tumors with pathologic correlation: pictorial review". European Journal of Radiology. 52 (3): 229–39. doi:10.1016/j.ejrad.2003.12.001. PMID 15544900. Retrieved 2015-11-13.
- ↑ 7.0 7.1 Mautner VF, Friedrich RE, von Deimling A, Hagel C, Korf B, Knöfel MT, Wenzel R, Fünsterer C. (2003). "Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma". American Journal of Pathology. 45 (9): 618–25. doi:10.1007/s00234-003-0964-6. PMID 12898075.
- ↑ Neurofibroma. U.S. Preventive Service Task Force (USPSTF) 2015. http://www.uspreventiveservicestaskforce.org/BrowseRec/Search?s=neurofibroma Accessed on November 17, 2015