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NEUROFIBROMA

Introduction

A neurofibroma is a benign nerve sheath neoplasm composed of multiple cell types. Neurofibromas are commonly seen in patients with neurofibromatosis 1 (NF1, von Recklinghausen disease), but the majority are solitary and not associated with NF1. Plexiform neurofibroma has a potential for malignant degeneration.

Pathophysiology

  • Neurofibromas are characterized by neoplastic proliferations with Schwann cell differentiation; there is also a combination of non-neoplastic components, including axons, perineurial cells and fibroblasts
  • Neurofibroma subtypes:
    • Cutaneous (small nodular tumors of skin and subcutaneous tissue)
    • Intraneural (deeper lesions involving nerve roots, trunks, or plexuses)
    • Plexiform neurofibroma (involvement of numerous adjacent nerve fascicle or multiple components of a nerve plexus; potential for malignant degeneration; almost always associated with NF1)
    • Massive soft tissue neurofibromas (previously known as elephantiasis neuromatosa; almost always associated with NF1)

Related Anatomy

  • Neurofibromas are usually centrally located (relative to the nerve) and frequently extensively intertwined in the surrounding nerve fascicles.

Incidence and Related Conditions

  • The majority (up to 90%) of neurofibromas is solitary and not associated with NF1, but plexiform neurofibromas and massive soft tissue neurofibromas are nearly pathognomonic of NF1
  • Cutaneous neurofibromas represent the most common form of tumor in NF1
  • Plexiform neurofibromas carry substantial risk (8–13% in NF1 patients) of becoming malignant
  • Patients are often 20–30 years old

Differential Diagnosis

  • Schwannoma
  • Nerve sheath myxoma
  • Neurothekeoma
  • Ganglioneuroma
  • Traumatic neuroma
  • Dermatofibrosarcoma protuberans (DFSP)
  • Desmoplastic malignant melanoma
  • Dermal melanocytic nevi
  • Acrochorda
ICD-10 Codes

NEUROFIBROMA

Diagnostic Guide Name

NEUROFIBROMA

ICD 10 Diagnosis, Single Code, Left Code, Right Code and Bilateral Code

DIAGNOSIS SINGLE CODE ONLY LEFT RIGHT BILATERAL (If Available)
NEUROFIBROMA, BENIGN, UPPER LIMB D36.12      

ICD-10 Reference

Reproduced from the International statistical classification of diseases and related health problems, 10th revision, Fifth edition, 2016. Geneva, World Health Organization, 2016 https://apps.who.int/iris/handle/10665/246208

Clinical Presentation Photos and Related Diagrams
Neurofibroma
  • Neurofibroma of a peripheral nerve: 1- epineurium; 2- neurofibroma tumor tissue interspersed between the nerve fibers; 3- fascicular groups
    Neurofibroma of a peripheral nerve: 1- epineurium; 2- neurofibroma tumor tissue interspersed between the nerve fibers; 3- fascicular groups
Basic Science Photos and Related Diagrams
Cutaneous neurofibroma
  • Cutaneous neurofibroma (arrow) associated with neurofibromatosis (NF1, von Recklinghausen disease)
    Cutaneous neurofibroma (arrow) associated with neurofibromatosis (NF1, von Recklinghausen disease)
Symptoms
Asymptomatic mass
Painful mass possibly associated with tingling
Multiple neurofibromas causing disfiguration
Typical History
  • There is no specific presentation unique to neurofibroma, and patients may present for evaluation because of a soft tissue mass, pain or focal neurologic findings.
  • Cutaneous neurofibromas most commonly occur as sporadic, solitary lesions in healthy adults. Treatment is not necessary unless diagnosis is uncertain or removal is desired owing to disfigurement or discomfort.
  • Plexiform neurofibroma in NF1 patients carries a substantial risk of becoming malignant. Because total resection is needed, there is a greater likelihood of subsequent pain and neurologic deficits.
Positive Tests, Exams or Signs
Work-up Options
Treatment Options
Treatment Goals
  • Establish an accurate diagnosis
  • Treat accordingly to eliminate symptoms and maintain hand function
Conservative
  • Asymptomatic solitary intraneural neurofibroma
  • Manage by observation if diagnosis certain
Operative
  • Cutaneous neurofibroma
  • Surgical resection only if there is pain, bleeding, interference with function or disfigurement
  • Surgical resection if there is pain, progressive neurologic deficits or suspicion of malignancy
  • Total resection
  • Solitary intraneural neurofibroma
  • Multiple or plexiform neurofibromas in patients with NF1 (risk of malignant deterioration)
Treatment Photos and Diagrams
Neurofibromatous Hemangiomatous Hamartoma of the Median Nerve
  • Neurofibromatous Hemangiomatous Hamartoma of the left median nerve in a 16 yo. female who presented with a mass in the left distal forearm. Her complaints included painful paresthesias, hand numbness and weak pinch. MRI showed a mass in the median nerve. At surgery the carpal tunnel (CT) and distal forearm were exposed and a large tumor (T) of the median nerve (MN) was identified
    Neurofibromatous Hemangiomatous Hamartoma of the left median nerve in a 16 yo. female who presented with a mass in the left distal forearm. Her complaints included painful paresthesias, hand numbness and weak pinch. MRI showed a mass in the median nerve. At surgery the carpal tunnel (CT) and distal forearm were exposed and a large tumor (T) of the median nerve (MN) was identified.
  • Neurofibromatous Hemangiomatous Hamartoma of the left median nerve has been excised after determining that there were no salvageable fascicular groups. Distal median never (1); excised tumor (2) & proximal median nerve (3). The median nerve gap was treated with sural nerve grafts.
    Neurofibromatous Hemangiomatous Hamartoma of the left median nerve has been excised after determining that there were no salvageable fascicular groups. Distal median never (1); excised tumor (2) & proximal median nerve (3). The median nerve gap was treated with sural nerve grafts.
  • Neurofibromatous Hemangiomatous Hamartoma of the left median nerve excised with proximal end (P) and distal end (D). Noted hemangiomatous changes (arrow).
    Neurofibromatous Hemangiomatous Hamartoma of the left median nerve excised with proximal end (P) and distal end (D). Noted hemangiomatous changes (arrow).
  • Eleven months after excision of a benign neurofibromatous hemangiomatous hamartoma, this patient developed a recurrent mass (arrow), pain and had no signs of median nerve regeneration.
    Eleven months after excision of a benign neurofibromatous hemangiomatous hamartoma, this patient developed a recurrent mass (arrow), pain and had no signs of median nerve regeneration.
  • A year after excision of a benign neurofibromatous hemangiomatous hamartoma was re-explored. The nerve grafts (arrows) were non-functional and the benign tumor (T) had recurred proximally. Re-excision was done. The median nerve function was lost but the pain resolved and long term follow-up showed no recurrence.
    A year after excision of a benign neurofibromatous hemangiomatous hamartoma was re-explored. The nerve grafts (arrows) were non-functional and the benign tumor (T) had recurred proximally. Re-excision was done. The median nerve function was lost but the pain resolved and long term follow-up showed no recurrence.
CPT Codes for Treatment Options

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Common Procedure Name
Excision benign nerve tumor
CPT Description
Excision of neurofibroma or neurolemmoma; cutaneous nerve
CPT Code Number
64788
CPT Code References

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Complications
  • Structural nerve damage often occurs after attempted microsurgical separation of neurofibroma from intact fascicles 
  • The nerve function is at risk because the tumor is interspersed between numerous fascicular groups.
Outcomes
  • Recurrence after neurofibroma excision is uncommon
Key Educational Points
  • Neurofibromas are peripheral nerve tumors, which as a group are uncommon and comprise <5% of all tumors of the hand.
  • Although peripheral nerve tumors are rare, they do occur, and the only way to know for certain if a tumor is malignant is by pathological analysis of tumor tissue obtained by a surgical biopsy.
  • Nerve biopsies can be complicated by new post-operative neural deficits.
References

New Articles

  1. Kudur M, Hulmani M. Isolated plexiform neurofibroma over left palm: a case report and review of literature. Indian J Dermatol 2013 May;58(3):245. PMID: 23723515
  2. Gosein M, Ameeral A, Banfield R, et al. Plexiform neurofibroma of the wrist: imaging features and when to suspect malignancy. Case Rep Radiol 2013;2013:493752. PMID: 23691413

Reviews

  1. Clarke S, Kaufmann R. Nerve tumors. J Hand Surg Am 2010;35(9):1520-2. PMID: 20807630
  2. Rodriguez F, Folpe A, Giannini C, et al. Pathology of peripheral nerve sheath tumors: diagnostic overview and update on selected diagnostic problems. Acta Neuropathol 2012;123(3):295-319. PMID: 22327363
  3. Skovronsky D, Oberholtzer J. Pathologic classification of peripheral nerve tumors. Neurosurg Clin N Am 2004;15(2):157-66. PMID: 15177315

Classics

  1. Strickland J, Steichen J. Nerve tumors of the hand and forearm. J Hand Surg Am 1977;2(4):285-91. PMID: 197148