Elephantiasis Neuromatosa

Elephantiasis Neuromatosa

Article
Brain & Nerve
Skin Care
+3
Contributed byKrish Tangella MD, MBASep 05, 2018

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

  • Massive Diffuse Soft Tissue Plexiform Neurofibroma

What is Elephantiasis Neuromatosa? (Definition/Background Information)

  • Elephantiasis Neuromatosa is an advanced form of plexiform neurofibroma, in which the entire extremity (arm or leg) is involved. It results in massive hypertrophy (enlargement) of the affected skin, underlying soft tissue, and bone structure
  • Plexiform neurofibroma is an uncommon form of neurofibroma that is slow-growing and asymptomatic. A majority of these tumors are benign. A neurofibroma is a type of peripheral nerve sheath tumor (PNST)
  • Study reports indicate that plexiform neurofibroma, and consequently Elephantiasis Neuromatosa, is unique to those with neurofibromatosis type 1 (NF-1), which is a genetic disorder
  • Elephantiasis Neuromatosa can result in severely impaired function of the affected region, severe physical disfigurement, and emotional stress. The individual is also vulnerable to bone fractures due to weakening of the affected bones
  • The mainstay of treatment of Elephantiasis Neuromatosa involves surgery, which is mainly undertaken to address cosmetic issues. In many cases, more than one surgical procedure is required
  • The prognosis of Elephantiasis Neuromatosa depends on the site of involvement and success of surgery. In a majority, complete restoration of the affected area may not be possible

Who gets Elephantiasis Neuromatosa? (Age and Sex Distribution)

  • Plexiform neurofibromas are usually seen in children. In rare cases, they may be observed at the time of birth. Elephantiasis Neuromatosa may be seen in individuals of any age group; children, young and older adults may be affected
  • Both males and females are affected; 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 Elephantiasis Neuromatosa? (Predisposing Factors)

  • Elephantiasis Neuromatosa is a longstanding complication of plexiform neurofibroma, which is associated with neurofibromatosis type 1 (NF-1). NF-1 is an autosomal dominant genetic disorder that is characterized by skin pigmentation and the formation of non-cancerous tumors that affect the central nervous system

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 Elephantiasis Neuromatosa? (Etiology)

Elephantiasis Neuromatosa arises from plexiform neurofibroma that forms due to genetic mutations.

  • Currently, studies indicate defects in the following gene: NF1 gene
  • Additionally, the following chromosomal aberration is 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)
  • Frequently, deletion in 9p is noted. It is also sometimes associated with abnormalities in the following genes:
    • CDKN2A
    • CDKN2B
    • MTAP

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.

What are the Signs and Symptoms of Elephantiasis Neuromatosa?

The signs and symptoms of Elephantiasis Neuromatosa may include the following:

  • The body part (limb) is massively enlarged in size; the underlying skin, soft tissues, and bones are also involved
  • The tumor masses may be large and involve and entire arm or leg (about 30-90 cm in overall size)
  • Pain is generally felt at the sites of involvement; the major nerves may be involved
  • Mostly, the involved regions include the arms and legs, followed by the trunk, and head and neck area; both limbs may be affected
  • There is weakening of the underlying bone, which is prone to fracture
  • Some conditions are known to progress quickly - the rate of growth of the condition can be rapid
  • Elephantiasis Neuromatosa is a characteristic feature of neurofibromatosis type 1, which causes an appearance of ‘bag or worms’

The associated signs and symptoms of neurofibromatosis type 1 that may be present include:

  • Hyperpigmented macules on the skin
  • Axillary or inguinal freckles
  • Multiple tumors: More than one form of neurofibroma tumor may be present
  • Presence of tumors that affect the eye
  • Long bone abnormalities

How is Elephantiasis Neuromatosa Diagnosed?

A diagnosis of Elephantiasis Neuromatosa may involve the following procedures and tests:

  • Complete physical examination with evaluation of medical history
  • Imaging studies, such as X-ray, CT, MRI scans of the affected region
  • Sequencing of the NF1 gene through molecular testing
  • 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: 

  • Filariasis
  • Hemangioma
  • Lymphangiomatosis
  • Macrodystrophia lipomatosa
  • Massive subperiosteal hematoma
  • Proteus syndrome
  • Klippel-Trenaunay-Weber syndrome

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 Elephantiasis Neuromatosa?

The complications of Elephantiasis Neuromatosa may include:

  • Cosmetic disfigurement leading to severe emotional and psychological stress
  • Severe functional impairment of the involved region
  • Severely affected quality of life
  • Often, multiple surgeries may be required to restore the affected limb or area
  • Tumor recurrence following surgery
  • Malignant transformation of plexiform neurofibroma can occur
  • Complications may arise due to NF1 (if present) including bone disorders, short stature, tumors affecting the central nervous system and the gastrointestinal system causing severe signs and symptoms

How is Elephantiasis Neuromatosa Treated?

The treatment measures adopted for Elephantiasis Neuromatosa may include:

  • Surgery to address cosmetic concerns, where possible
  • Restorative surgery following tumor removal; often multiple surgeries are necessary
  • Medication therapy is being currently researched to suppress or slow progression of the condition
  • Treatment of underlying neurofibromatosis type 1 (if present) may be necessary
  • Long-term follow-up care with regular screening and check-ups are important

How can Elephantiasis Neuromatosa be Prevented?

Current medical research has not established a definitive method to prevent the formation of Elephantiasis Neuromatosa, which is a potential complication of longstanding plexiform neurofibroma. However, if the condition is 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 Elephantiasis Neuromatosa? (Outcomes/Resolutions)

  • The prognosis of Elephantiasis Neuromatosa depends upon various factors including the site of involvement, the severity of the signs and symptoms, and the success of surgery
  • In many affected individuals, it is difficult to completely restore the affected arm/leg region to normal quality; a complete surgical resection and restoration is often challenging and prolonged
  • The prognosis of neurofibromas associated with NF1, depends upon the severity of the signs and symptoms of the genetic disorder

Additional and Relevant Useful Information for Elephantiasis Neuromatosa:

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

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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