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This patient has cafe au lait spots on his legs, axillary freckling, multiple neurofibromas and an (incidental) thoracotomy scar.
His diagnosis is type 1 neurofibromatosis.
Neurofibromatosis (NF) is a genetic disorder that refers to a number of genetically inherited conditions that differ genetically and clinically carrying a significant risk of tumor formation on nerve tissues. It is divided into;
• NF type 1
• NF type 2
Being inherited in an autosomal dominant pattern, only one defected gene is required for a child to have chances of developing the condition. If parents are not affected then NF is most likely a result of mutation at the time of conception.
The specific genes involved are;
• NF1- a gene on chromosome 17, normally responsible for production of protein neurofibromin, which helps in cell growth regulation. Mutation results in an uncontrollable growth
• NF2- a gene on chromosome 22, normally produces merlin. As a result of mutation, there is loss of merlin and cell growth becomes out of control.
• Schwannomatosis is a result of two gene mutations.
The single biggest risk factor for the first two types is family history, while inheritance of Schwannomatosis is not so clear. Clinical features vary from type to type but are mild to moderate.
These features include:
• NF1 is characterized by cuatneous findings and changes in bone. Signs and symptoms include:
– Café au lait spots (>6 is strong indication)
– Freckled arm pits and groin
– Lisch nodules
– Neurofibromas (mostly in or under the skin)
– Optic glioma
– Bone deformities
– Bowed lower leg
– Learning disabilities
– Head size is larger than average
– Short stature
• NF2 clinical features mostly result from slow growing tumors (acoustic neuromas) in both the ears. At times NF2 may involve other peripheral, cranial nerves, visual and spinal nerves.
Features of NF2 are:
– Ringing in ears
– Gradual loss of hearing
– Poor balance
– Facial drop
– Balance difficulties
– Numbness and weakness in arms and legs
– Vision problems
Schwannomatosis is the rarest type but can cause intense and chronic pain in any part of body. Clinical features include:
– Numbness and weakness various parts of body
– Loss of muscle
Neurofibromatoses may be diagnosed by your doctor after conducting a physical examination and inquiring about your family history. Investigations that are carried out to confirm the diagnosis include:
• MRI or CT scan
• Genetic testing
• Slit-lamp examination
• Ear examination
There is no specific treatment of NF, however the disease is managed by providing symptomatic relief and annual check-ups to assess and focus on potential complications.
Management of NF includes:
Routine check-ups for;
– Cuatneous examination
– Skeletal examination
– Nervous system examination
Removal of NF (cosmetic and medical reasons)
– Laser for non-surgical removal
– Surgical resection (after considering risks involved)
Chemotherapy for optic nerve gliomas
Anti-histamines for itching
Anti neoplastic agents for cell growth and proliferation
Regular follow-up visits
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Question 3 of 5
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