Neurofibromatosis Type 1 -Symptoms, Causes, Treatment

Von Recklinghausen’s disease or also known as Neurofibromatosis Type 1 is the most common type of genetically inherited disease. This disease can cause mutation to certain genes especially in chromosome 17 that causes the formation of tumors. The nerve tissues that grow into a tumor will cause serious damage by compressing nearby tissues and nerves that affect the neural cells. The tumors will mostly spread throughout the body which results to skin pigmentation. Von Recklinghausen’s disease is not really a cancerous disease but the disease is often accompanied by scoliosis, difficulties in learning, epilepsy, and eye problems. The severity of the disease may vary from one person to another.

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Causes of Von Recklinghausen’s Disease

The main cause of Von Recklinghausen’s Disease is hereditary; if either one of the parents is a carrier of the disease, the child will have a 50-50% chance of developing the disease as well.

Von Recklinghausen’s Disease can also develop into families with no history of this illness. This may be a result of a gene mutation in the egg or sperm or caused by abnormal genes that encode protein known as neurofibromin, a cell used to send signals.

Medical conditions like leukemia and Watson syndrome can cause mutation in the NF1 gene. Other conditions like skin, nervous system, and bone conditions can cause the development of such disease.

Symptoms of Von Recklinghausen’s Disease

Possible symptoms of Von Recklinghausen’s disease are as follows;

• Light brown skin spots with a size of 5 mm in diameter for patients in the puberty stage and more than 15 mm for patients over puberty stage and adults

• Multiple freckle like spots found in the groin and armpit area

• A common symptom is the formation of a tumor in the iris (colored part of the eye) called Lisch Nodules

• Small, rubberized soft tumors or nodular neurofibromas will cause skin underlying it to be purplish in color

• Skeletal deformities like scoliosis, curved spine, bowed legs or humpback

• Presence of the disease to either one parent or other siblings

• Blindness

• Convulsions

• Pain especially at the affected peripheral nerves

• Big and soft tumors called plexiform neurofibromas which causes skin to have dark colors and may spread even under the skin

• Speech impairment, attention deficiency disorder and learning disabilities are most common symptoms specifically on children with NF1

• Nerve symptoms such as epilepsy, hearing disturbances, progressive loss of vision, sensation disorder, balance disorder, paresthesias, brain tumors, spinal tumors, and CNS tumors

Risk Factors of Von Recklinghausen’s Disease

Patients with family history of NF1 are at high risk of developing such disease. And the disease has no exemptions, men or women at any age can acquire such disease either inherited or not.

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Diagnosis of Von Recklinghausen’s Disease

Von Recklinghausen’s disease can be diagnosed as early as embryo stage especially for couples who undergo pre-implantation genetic diagnosis via In Vitro Fertilization treatment.

On a fetus, a procedure called chorionic villus sampling is used to determine if the baby has inherited such type of disease.

For adults or young children, diagnosis of the disease depends if a person has either two or more of the criteria listed below. If so, he/she will be considered to have developed a Von Recklinghausen’s disease;

• Persons with more than six tiny spots of 5mm to more than 15mm in diameter

• Freckle like spots under the groin and arm pit area

• Either has one plexiform neurofibroma or two or more nodular neurofibromas

• Presence optic glioma

• Two or more Lisch nodules

• Bone deformations

• A parent, relative or sibling with NF1

• Genes with discovered mutations specifically those located at chromosome 17

Treatment for Von Recklinghausen’s Disease

There has been no specific treatment for Von Recklinghausen’s disease. Experimental treatments are still under investigation. But tumors that cause pain and loss of function are removed as these tumors may have the possibility of becoming cancerous. Treatments are usually to manage the symptoms and halt the progress of the disease to avoid further complications.

Complications of Von Recklinghausen’s Disease

List of complications associated with Von Recklinghausen’s disease are as follows;

• Attention deficit hyperactivity disorder or ADHD

• Blindness from complications brought by optic glioma

• Cancerous tumors

• Break in the bones at the legs which does not heal too well

• Loss of function on the nerves affected by the pressure

• Tumors in the exposed part of the body such as face and skin

• Pheochromocytoma, a rare tumor disease, which may lead to very high blood pressure

• Re-growth of Neurofibromatosis tumor

• Scoliosis and other bone deformities

• Childhood leukemia

• Learning disabilities

• Tumor formation in the brain, adrenal gland, muscle, spinal cord, and in the peripheral nerve sheath


Through an IVF pre-implantation genetic diagnosis, an embryo detected with an NF1 genetic disease can be corrected by removing such abnormal genes. But for natural pregnancy, there is no way to stop the genes from mutating but suspect patients and their families are advised to undergo genetic counseling to prepare them for certain conditions and complications that will happen in the future for a person with Von Recklinghausen’s disease.

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