Neurofibromatosis

Question 1

Type of inheritance

Answer 1

autosomal dominant inheritance

Question 2

Signs/Symptoms

Answer 2

Cafe-au-lait-spots - flat, coffee, coloured skin patches

Dermal - neurofibromatosis

• small, violaceous nodules
• appear at pubery

Nodular neurofiromas
-parasthesia if touched

Lisch nodules - non harmful, hamartomas on iris (slit-lamp_ examination

Short stature

macrocephaly (large head)

Question 3

Complications

Answer 3

Learning difficulties
Neurofibromas - nerve root compression

Bone- scoliosis
Blood- hypotension
Malignant - optic pathway glioma, phaechromocytoma, sarcoma

Question 4

Management

Answer 4

Spine
legs
vision

Question 5

Genetics

Answer 5

mutation in NF1 gene
normally inhibits RAS
mutation leads to uncontrolled proliferation is a TSG