phakomatoses [Neurosurgery Wiki]

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Phakomatoses are a group of [[neurocutaneous disorder]]s 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
neurofibromatosis type 1 (NF1) (von Recklinghausen disease)[+]
neurofibromatosis type 2 (NF2) (mnemonic)
tuberous sclerosis (Bourneville-Pringle disease)
tuberous sclerosis diagnostic criteria
ataxia telangiectasia
Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
von Hippel-Lindau disease (retinocerebellar angiomatosis)
incontinentia pigmenti (Bloch-Sulzberger syndrome)
basal cell naevus syndrome (Gorlin-Goltz syndrome)
Wyburn-Mason syndrome (Bonnet-Dechaume-Blanc syndrome)
encephalocraniocutaneous lipomatosis 
hypomelanosis of Ito
Nijmegen breakage syndrome
epidermal naevus syndrome
Schimmelpenning syndrome
phacomatosis pigmentokeratotica
nevus comedonicus syndrome
angora hair nevus syndrome
Becker nevus syndrome
Proteus syndrome
type 2 segmental Cowden disease
CHILD syndrome
FGFR3 epidermal nevus syndrome

[[Neurocutaneous melanosis]] 

progressive facial hemiatrophy (Parry-Romberg syndrome)
PHACE syndrome
Cowden disease
Gomez-Lopez-Hernandez syndrome