Phakomatoses
Dr Maxime St-Amant and Dr Frank Gaillard et al.
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 include
- neurofibromatosis type 1 (NF1): or von Recklinghausen disease
- neurofribromatosis type 2 (NF2)
- tuberous sclerosis: or Bourneville-Pringle disease
- encephalocraniocutaneous lipomatosis
- encephalotrigeminal angiomatosis: or Sturge-Weber syndrome
- retinocerebellar angiomatosis: or von Hippel-Lindau disease
- hypomelanosis of Ito
- ataxia telangiectasia
- Nijmegen breakage syndrome
- basal cell naevus syndrome: or Gorlin syndrome
- epidermal naevus syndrome
- incontinetia pigmenti: or Bloch-Sulzberger syndrome
- neurocutaneous melanosis
- progressive facial hemiatrophy: or Parry-Romberg syndrome
- PHACES syndrome
- Cowden syndrome
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