What are the other Names for this Condition? (Also known as/Synonyms)

• Localized Cutaneous type of Neurofibroma
• Localized Neurofibroma of Skin
• Neurofibroma of Skin, Localized type

What is Localized Cutaneous Neurofibroma? (Definition/Background Information)

• A neurofibroma is a type of peripheral nerve sheath tumor (PNST). This tumor may arise from the nerves underneath the skin surface, or from nerves deep within the body
• Localized Cutaneous Neurofibroma is the most common clinical form of neurofibroma that occurs on the skin. It is often sporadic in nature and is not present in association with neurofibromatosis type 1 (NF-1) genetic disorder
• Localized Cutaneous Type of Neurofibroma usually manifest in young men and women. They do not present any significant signs and symptoms in many cases. However, the tumors involve the small nerves of the skin and some can cause associated signs and symptoms
• A treatment of the tumor may be undertaken, if they present cosmetic concern to the individual. In such cases, a simple surgical excision is sufficient treatment. The prognosis is excellent on removal of Localized Cutaneous Neurofibroma, since it is a benign tumor in a vast majority of cases

Who gets Localized Cutaneous Neurofibroma? (Age and Sex Distribution)

• Neurofibromas generally begin to appear during teenage and young adulthood (age range 15-20 years). But, they may be seen in individuals of any age group
• Both males and females are affected by Localized Cutaneous Neurofibroma; no preference for any gender is seen
• This condition is observed worldwide; there is no ethnic or racial predisposition

What are the Risk Factors for Localized Cutaneous Neurofibroma? (Predisposing Factors)

• No definitive risk factors for solitary Localized Cutaneous Neurofibroma have been currently identified. A majority of the tumors are solitary and occur sporadically
• However, if multiple tumors are present, then an association with neurofibromatosis type 1 (NF-1) may be observed. NF-1 is a genetic condition that is characterized by skin pigmentation and the formation of non-cancerous tumors that affect the central nervous system
• Increased risk of Localized Cutaneous Neurofibromas are seen in polycystic kidney disease

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Localized Cutaneous Neurofibroma? (Etiology)

The cause of Localized Cutaneous Neurofibroma is due to genetic mutations.

• Currently, studies indicate defects in the NF1 gene
• Additionally, the following chromosomal aberrations are noted:
  • Mutations in chromosome 17 due to loss of 17q (long arm); this is observed frequently
  • Mutations in chromosome 19 due to loss of 19p and 19q (on short arm and long arm respectively)
  • Mutations in chromosome 22 due to loss of 22q (long arm)

The above genetic abnormalities can be detected using molecular studies, which may play a significant role in identifying the tumor type, and in some cases, helping the healthcare provider take appropriate treatment decisions.

Note: The presence of multiple neurofibromas may indicate neurofibromatosis type 1, which is an autosomal dominant genetic disorder.

What are the Signs and Symptoms of Localized Cutaneous Neurofibroma?

In many cases, significant signs and symptoms of Localized Cutaneous Neurofibroma may not be observed. However, the following may be noted, in some cases:

• In most cases, the tumors are single and occur sporadically, not as part of a syndrome (non-syndromic tumors)
• In individuals with neurofibromatosis type 1, multiple tumors may be seen. In such cases, the associated signs and symptoms of NF-1 can be observed
• In many cases, the tumors are solid, firm, and mobile (when felt by touch)
• Some neurofibromas can be painful
• The most common site of the tumor is the skin (hence, cutaneous neurofibroma) - which usually involves the small nerves
• Usually, it is a well-circumscribed tumor, without a surrounding capsule (not encapsulated)
• Localized Cutaneous Neurofibromas may range in size from 2 mm to 2 cm (average size 0.5 cm). The skin surface around the tumors may be pale tan

How is Localized Cutaneous Neurofibroma Diagnosed?

A diagnosis of Localized Cutaneous Neurofibroma may involve the following procedures and tests:

• Complete physical examination with evaluation of medical history
• Dermoscopy: It is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
• Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
• Imaging studies, such as CT/MRI scans, of the affected region
• Tissue biopsy: A tissue biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis

A differential diagnosis may be undertaken to eliminate the following tumor types prior to a definitive diagnosis:

• Neurotized nevus
• Schwannoma
• Spindle cell lipoma
• Superficial angiomyxoma
• Traumatic neuroma

Note:

• If there are multiple neurofibroma tumors, then it is an important diagnostic indicator for the presence of neurofibromatosis type 1 (NF1) disorder
• Typically, solitary Localized Neurofibroma of Skin does not indicate a presence of NF1

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Localized Cutaneous Neurofibroma?

Generally, no significant complications arise from Localized Cutaneous Neurofibroma. In some cases, the following may be observed:

• These tumors may present cosmetic concerns, in which case surgery may be proposed
• Very rarely, they can become malignant; the neurofibroma may undergo a malignant transformation
• Tumor recurrence following surgery
• Complications may arise due to NF1 (if present)

How is Localized Cutaneous Neurofibroma Treated?

Localized Cutaneous Neurofibromas may not require any treatment if they are asymptomatic. However, in case they are at a body site that causes discomfort and/or present cosmetic concerns in the individual, they may be removed.

The treatment measures adopted for Neurofibroma of Skin, Localized Type may include:

• The healthcare provider may choose to regularly monitor the tumor, if they are asymptomatic
• A complete surgical excision and removal can result in a cure
• Treatment of underlying neurofibromatosis type 1 (if present) may be necessary
• Follow-up care with regular screening and check-ups are important

How can Localized Cutaneous Neurofibroma be Prevented?

Current medical research has not established a definitive method to prevent the formation of sporadic Localized Cutaneous Neurofibroma. However, if the tumors are present against a background of neurofibromatosis type 1, then the following may be considered:

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Localized Cutaneous Neurofibroma? (Outcomes/Resolutions)

• In general, the prognosis of Localized Cutaneous Neurofibroma is excellent on its complete excision and removal. Since many are benign tumors, the prognosis is excellent, even if only periodic observation is maintained
• These common skin neurofibroma tumors are typically benign; they are generally not known to transform into any malignancy
• The prognosis of Localized Cutaneous Type of Neurofibroma associated with NF1, depends upon the severity of the signs and symptoms of the genetic disorder

Additional and Relevant Useful Information for Localized Cutaneous Neurofibroma:

There is no definitive proof that certain types of diet may influence the development of neurofibromas.