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Neurofibromatosis
What are the symptoms?
Major features of NF1 include Café au lait (CAL) spots on the skin, Dermal neurofibromas which show as lumps under skin, Lisch nodules (brown spots on iris) and axillary or inguinal freckling (in the armpits or groin area). Minor, occasional features of NF1 include short stature and mild macrocephaly (large head size). Complications of NF1 are mainly cosmetic, but in about a third of cases complications of varying severity may occur, including plexiform neurofibromas (deeper nerve growths), scoliosis (curvature of the spine) see entry, pseudarthrosis (stiffening) of the long bones, optic glioma (eye growths, often without symptoms), spinal neurofibroma, hypertension due to renal artery stenosis and phaeochromocytoma (a usually benign adrenal gland tumour). Various tumours may occur in a small proportion of patients. Learning difficulties may occur, for example short term memory problems, impulsive fidgety behaviour and difficulty concentrating.
Major features of NF2 include bilateral acoustic neuromas (Vestibular schwannomas) which usually begin to cause problems in the late teens or early twenties although rarely some are later onset. Minor features of NF2 include juvenile lenticular cataracts and possibly CAL spots (but fewer than in NF1). Complications of NF2 include brain tumours which are normally benign - the most common type being meningiomas, spinal tumours and skin tumours - Schwannomas which may be similar to neurofibromas in NF1.
Background
| Psychological and behavioural characteristics 
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