What is phakomatosis ?
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.
Enumerate some examples of the phakomatoses ?
Neurofibromatosis, 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, 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 and Gomez-Lopez-Hernandez syndrome.