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

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.