Phakomatoses are a group of neurocutaneous disorders characterised by involvement of structures that arise from the embryonic ectoderm (thus central nervous system, skin and eyes). Other organs may also be involved.
As a group they are characterised by often widespread abnormalities often with characteristic appearances. Examples of phakomatoses are listed here:
Neurofibromatosis type 1 (NF1) or von Recklinghausen disease is a multisystem neurocutaneous disorder and the most common phakomatosis 1. Additionally it is also one of the most common inherited CNS disorders, autosomal dominant disorders and inherited tumour syndromes.
Epidemiology
Neurofibromatosis affects 1:2500-3000 individuals 3. In half of cases, the disease is inherited as an autosomal dominant condition. In the other 50% of cases the disease is due to a new mutation 6. There is variable expression but 100% penetrance by 5 years of age 6.
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