Neurocutaneous Syndromes Flashcards
What causes neurofibromatosis?
Neurofibromatosis (NF) is a genetic disorder that affects the bone, soft tissue, skin and nervous system. Clinical manifestations increase over time.
At least 8 different clinical phenotypes of NF have been identified. It is classified into 2 distinct types:
- Neurofibromatosis 1 (NF1) caused by mutation in neurofibromin gene on chromosome 17
- Neurofibromatosis 2 (NF2) caused by mutation on chromosome 22.
Solitary neurofibroma (see Skin Lumps) is not associated with NF1 or NF2.
What are the clinical features of Neurofibromatosis Type 1?
NF1 occurs in about 1 in 3000 births. It also known as von Recklinghausen disease. It is characterised by the presence of:
- 6 or more café-au-lait macules — flat light brown birthmarks
- Freckling in skin folds such as at the axilla.
- Lisch nodules in the iris of the eye.
- Multiple neurofibromas — tumours that hang off the skin
What are the clinical features of Neurofibromatosis Type 2?
NF2 occurs in about 1 in 50,000 births. It also known as bilateral acoustic neurofibromatosis or central neurofibromatosis. It is characterised by multiple tumours and lesions on the brain and spinal cord.
- Often this is not apparent until the late teens or early 20’s.
- Tumours in NF2 are usually benign. But benign tumour enlargement in the brain and spinal cord can interfere with vital functions.
Describe the management of Neurofibromatosis
Genetic counselling and education about NF is important. One concern that should not be overlooked is the risk of isolation or loneliness in people with NF. People with NF are often anxious about future complications and sometimes disfiguring lesions can lead to withdrawal from society.
Surgical excision for neurofibromas that become large and painful to reduce the risk of malignancy and other complications. Facial deformity can be mitigated by aesthetic (plastic) surgery.
Targeted molecular therapies show promise for the future treatment of neurofibromatosis.
