Neurofibromatosis

Key Points
Genetic condition which affects the skin, soft tissue, nervous system and bones
Caused by genetic mutation
Divided into two subtypes, NF1 and NF2
Symptoms predicated on which subtype of the condition is present

Neurofibromatosis is a genetic condition which typically affects the skin, soft tissue, nervous system and bones. The condition is broken down into two subtypes, NF1 and NF2, which present differently.

NF1 is the form of the condition which presents cutaneously, and it consists of the formation of 6 or more patches of skin which are oval in shape, light brown in color and larger than .5cm, also known as café-au-lait spots. Additionally, affected persons will have multiple neurofibromas, small benign tumors under, on, or hanging from the skin, freckling in skin folds, and tiny tumors known as lisch nodules in the eye. In association with cutaneous symptoms, affected persons may also experience growth hormone deficiency, malformed long bones or scoliosis, learning difficulties, loss of vision, tumors on the spine, brain and/or GI, hearing loss, and high blood pressure. NF1 also carries with it the increased risk for developing cancerous tumors.

NF2's symptoms are primarily systemic, and typically consist of the formation of multiple lesions or tumors on the spinal cord and/or brain, though they may appear elsewhere. Hearing loss due to the formation of tumors on nerves in the ear is often the first sign of the condition.

Neurofibromatosis is the result of a genetic mutation, each subtype caused by the mutation of a different gene. Affected persons have a 50% chance of passing the condition on to any children. NF1 typically presents during childhood, while symptoms of NF2 may not be apparently until early adulthood.

Differential Diagnosis (Other conditions with similar appearance)
Multiple Endocrine Neoplasia Type 1

Diagnosis
Key Points
Diagnosis of NF1 typically based on specific clinical criteria
Various imaging testing may be performed to confirm diagnosis, especially in NF2

The diagnosis of NF1 typically consists of the fulfillment of specific clinical criteria, including the presence and number of café-au-lait spots and presence of freckles in skin folds. Diagnosis of NF2, in addition to confirmation of the diagnosis of NF1, consists of various imaging tests, such as MRI, CT and radiography, among others.

Treatment
Treatment is typically reserved for tumors which become cause for concern
Treatment consists of removal
*Regular visits with health care professionals are advised to track the progress of the condition, especially in children

While no cure exists for NF, as tumors are generally benign, aggressive treatment is not necessary. However, tumors which become cause for concern because of size, location, or chance of malignancy, will be removed surgically. Regular visits with health care professionals are recommended to assist in tracking the condition's progress, especially in young children.