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==Differential Diagnosis==
==Differential Diagnosis==
Neurofibroma must be differentiated from [[schwannoma]], [[dermatofibrosarcoma protuberans]] (DFSP), [[ganglioneuroma]], and [[melanocytic nevus]].
Neurofibroma must be differentiated from [[schwannoma]], [[dermatofibrosarcoma protuberans]] (DFSP), [[ganglioneuroma]], dermal neurotized [[melanocytic nevus]], myxoid [[liposarcoma]], solitary circumscribed neuroma, traumatic [[neuroma]], superficial angiomyxoma, nerve sheath myxoma, malignant peripheral nerve sheath tumor, [[Lipoma|spindle cell lipoma]], [[Leiomyoma]], inflammatory myofibroblastic tumor, and fibroepithelial polyp.


==Epidemiology and Demographics==
==Epidemiology and Demographics==

Revision as of 00:36, 25 April 2019

Neurofibroma Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Neurofibroma from other Diseases

Epidemiology and Demographics

Risk Factors

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Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

Staging

History and Symptoms

Physical Examination

Laboratory Findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2], Shanshan Cen, M.D. [3]

Overview

Neurofibromas are benign nerve sheath tumors of neural origin in peripheral nervous system, comprising all elements of the peripheral nerve (i.e. axons, Schwann cells and fibroblasts). Neurofibromas may occur as part of the syndrome of neurofibromatosis (commonest), solitary neurofibromas, or multiple neurofibromas without von Recklinghausen's disease (NF-1). Neurofibroma may be classified into 3 subtypes: localised neurofibroma, diffuse neurofibroma, and plexiform neurofibroma. 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. 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. Plexiform neurofibroma may be caused by the bi-allelic inactivation of the neurofibromatosis type I tumor suppressor gene. Neurofibroma must be differentiated from schwannoma, dermatofibrosarcoma protuberans (DFSP), ganglioneuroma, and melanocytic nevus. Neurofibroma usually affects individuals between 20 and 30 years of age. Neurofibroma affects men and women equally. 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).

Historical perspective

In 2006, Yang et al demonstrated a critical neurofibroma microenvironment interaction that SCF-stimulated Nf1+/− mast cells potentiate Nf1+/− fibroblast functions.

Classification

Neurofibroma may be classified into 5 subtypes: Cutaneous/dermal/localized, subcutaneous, diffuse, intramuscular, and plexiform neurofibroma. Plexiform neurofibromas may be further sub-classified into diffuse and nodular plexiform.

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. 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.

Causes

Plexiform neurofibroma may be caused by the bi-allelic inactivation of the neurofibromatosis type I tumor suppressor gene.

Differential Diagnosis

Neurofibroma must be differentiated from schwannoma, dermatofibrosarcoma protuberans (DFSP), ganglioneuroma, dermal neurotized melanocytic nevus, myxoid liposarcoma, solitary circumscribed neuroma, traumatic neuroma, superficial angiomyxoma, nerve sheath myxoma, malignant peripheral nerve sheath tumor, spindle cell lipoma, Leiomyoma, inflammatory myofibroblastic tumor, and fibroepithelial polyp.

Epidemiology and Demographics

Neurofibroma usually affects individuals between 20 and 30 years of age. Neurofibroma affects men and women equally.

Risk Factors

Neurofibromatosis 1 and Neurofibromatosis 2 are the most common risk factors for development of neurofibromas.

Screening

According to the the U.S. Preventive Service Task Force (USPSTF), there is insufficient evidence to recommend routine screening for neurofibroma.

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).

Staging

There is no established system for the staging of neurofibroma.

Diagnosis

History and symptoms

Neurofibromas can form anywhere in body with diffuse neurofibromas commonly involving scalp. Symptoms of neurofibroma include soft masses/bumps (internal or superficial) , transient itching, pain, numbness and tingling in the affected area, severe bleeding, physical disfiguration, cognitive disability, stinging, neurologicaldeficits, changes in movement (clumsiness in the hands, trouble walking), bowel incontinence, scoliosis, UTI, urinary retention, urgency, frequency, urinary incontinence, hematuria, hydronephrosis, or pelvic mass.

Physical Examination

Physical examination of patients with neurofibroma is usually remarkable for soft masses (internal or superficial).

Laboratory Findings

Immunohistochemistry of neurofibroma shows positivity for S100, CD34, and factor XIIIa and negativity for EMA (except in plexiform neurofibromas).

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.

Surgery

Surgery is the mainstay of treatment for neurofibroma.

Primary Prevention

There is no established method for prevention of neurofibroma.

Secondary Prevention

There are no secondary preventive measures available for neurofibroma.

References


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