Neurofibromatisis and Tuberous Sclerosis

Question 1

Features of NF1

Answer 1

• Cafe au lait spots
• Axillary/Groin Freckles
• peripheral neurofibromas
• iris hamartomas (Lisch nodules)
• Scoliosis
• Phaeochromocytoma

Question 2

Features of NF 2

Answer 2

Bilateral acoustic neuromas

Multiple Intercranial. schwannomas, meningiomas and ependymomas

Question 3

Features of Tuberous Sclerosis

Answer 3

• Depigmented Ash leaf spots under UV
• Shagreen Patches: Roughened skin on lumbar spine
• Subunguil Fibromas
• Angiofibromas over the nose (adenoma sebaceum)
• Developmental Delay
• Epilepsy
• Intellectual problems
• Retinal Hamartomas
• Rhabdymyomas of the heart
• Gliomatous changes can occur in the brain lesions
• Polycystic Kidneys
• Renal angiomyolipomata
• Multiple Lung Cysts