Neurofibromatosis, also called as von Recklinghausen’s disease, is a genetically inherited disease of nerve tissue. It causes tumors to grow on nerves (neurofibromas) that lie on or under the skin anywhere in the body. It affects the development and growth of nerve cell tissues. The tumors are usually benign (non cancerous). Even so, in some cases they can be disfiguring. They tend to grow in many numbers and varying size, over the period of years.
Types of Neurofibromatosis:
There are two types of neurofibromatosis:-
- NF1- It is most common type of neurofibromatosis. It is caused by the mutation of the chromosome 17 affecting 1 in every 2,500-4,000 births. It mainly affects peripheral nerves associated with café-au-lait spots on the skin. Café-au-lait spots are light brown in color like coffee in milk. It is also known as von Recklinghausen disease.
- NF2- It is rare type of neurofibromatosis. It is caused by the mutation of the chromosome 22 affecting 1 in every 25,000. It mainly affects VIII cranial nerve (auditory-vestibular nerve) which passes information from inner ear to the brain. It causes hearing loss, ringing in ear and problem with balance.
Causes of Neurofibromatosis :
Neurofibromatosis is a genetically inherited disease. If either parent has neurofibromatosis, then there are 50% chance of having the disease in their children.
Neurofibromatosis also appears in families with no previous history of the condition. It results from change (mutation) in the genetic material of the sperm or egg during the time of conception.
Signs and Symptoms of Neurofibromatosis :
Café-au-lait spots: These are light brown in color like coffee in milk. If there are six or more Café-au-lait spots on the body then the chances of neurofibromatosis may be suspected. Such spots would precede tumors in any part of the body, not at the place of the spots.
- Neurofibromas: These are generally benign tumors which grow on nerves that lie on or under the skin anywhere in the body. They appear as lumps under the skin. It is likely to increase in size and number as the child gets older. Tumors are soft in nature.
- Lisch nodules: It is very small spots of brown color which appear in the iris of the eye. It generally has no symptoms.
- Acoustic neuroma: It is the most common type of the brain tumor which generally develop on the VIII cranial nerve (auditory-vestibular nerve) which passes information from inner ear to the brain. It is also known as vestibular schwannoma. When these tumor grow in size it causes- hearing loss, ringing in ear and problem with balance, facial weakness, facial numbness, vertigo.
Freckles: These are small light brown spot on the skin which becomes more pronounced after sun exposure. In neurofibromatosis cases these freckles are found on uncommon places such as groin region, under breast and armpits.
Diagnosis of Neurofibromatosis :
Diagnosis is mainly done by physical examination and enquiring about the family history of neurofibromatosis. One should have at least two of the following signs and symptoms to diagnose with neurofibromatosis.
- Café-au-lait spots- six or more Café-au-lait spots on the body of 5mm or more in size.
- Neurofibroma- appearance of two or more Neurofibromas.
- Family history of neurofibromatosis.
- Freckles on groin region, under breast and armpits
- Lisch nodules - At least two Lisch nodules on the iris
- Certain skeletal deformities such as scoliosis (forward bending of the spine)
- Optic glioma-a tumor on the optic nerve
MRI and X- ray are done for the screening of tumor and skeletal abnormalities. In NF2 - audiometry test for hearing loss.
Treatments for Neurofibromatosis :
Most of the time it does not need treatment but if the tumors are painful, disfiguring, growing and compressing the adjacent tissues may need treatment.
Surgery: Large tumor may be removed surgically. Chances of growth of tumor at the same place, after the surgery, are very high. The doctor may remove a tumor and also treat bone abnormalities by surgical means.
Radiation: Radiotherapy is used to shrink tumors.
Chemotherapy: Some drugs are useful in treating tumors.
Counseling - Some patient and family members may experience emotional or psychological issues (sadness, shock, anger, frustration, embarrassment etc.) as a result of neurofibromatosis. They become isolated and withdraw themselves from the society. They may have emotional setback about their appearance.
Family counseling and genetic counseling may help people with neurofibromatosis to be comfortable with themselves and their family members.
Homeopathic approach for Neurofibromatosis:
Homoeopathy help as a supporting treatment by reducing the nodular growth and help to boost the body immunity.