Neurocutaneous syndromes
= Phacomatoses
Disorders characterised by harmatomas located throughout the body, often
involving both skin and nervous system.
Neurofibromatosis
Type 1
Autosomal dominant (chromosome 17)
- Café-au-lait spots
- Cutaneous neurofibromas (may be disfiguring)
- Plexiform neurofibromas
- Lisch nodules
- Optic gliomas
- Kyphoscoliosis
Type 2
Autosomal dominant (chromosome 22)
- CN VIII schwannoma
- Multiple meningiomas
Tuberous sclerosis
Autosomal dominant (chromosome 9 or 16).
- Ash-leaf macules
- Shagreen patches
- Angiofibromas (adenoma sebaceum)
- Subungual fibromas
- Epilepsy (cortical tubers)
- Mental retardation, autism
- Renal angiomyolipomas
- Retinal phakomas, specks
von Hippel-Lindau disease
Autosomal dominant (chromosome 3)
- Cerebellar haemangioblastomas
- Retinal angiomas
- Phaeocromocytomas
- Pancreatic cysts
- Liver cysts
- Renal cysts and cell carcinomas
- Polycythaemia in 10% (renal tumour produces erythropoietin)