Phakomatoses
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:
Related articles
Phakomatoses
-
phakomatoses
-
neurofibromatosis
- neurofibromatosis type 1 (NF1) (von Recklinghausen disease)
- neurofibromatosis type 2 (NF2) (mnemonic)
- tuberous sclerosis (Bourneville-Pringle disease)
- 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/COLD syndrome
- Gomez-Lopez-Hernandez syndrome
-
neurofibromatosis
Unable to process the form. Check for errors and try again.