Neurofibromatosis

Question 1

Neurofibromatosis presentation

Answer 1

Examine this patient’s skin.

Question 2

Clinical signs of Neurofibromatosis

Answer 2

1. Cutaneous neurofibromas: two or more
2. Café au lait patches: 6 or more, >15 mm diameter in adults
3. Axillary freckling
4. Lisch nodules: melanocytic hamartomas of the iris
5. Blood pressure: hypertension (associated with renal artery stenosis and phaeochromocytoma)
6. Examine the chest: fine crackles (honeycomb lung and fibrosis)
7. Neuropathy with enlarged palpable nerves
8. Visual acuity: optic glioma/compression

Question 3

Discussion of Neurofibromatosis Inheritance

Answer 3

• Inheritance is autosomal dominant
• Type I (chromosome 17) is the classical peripheral form
• Type II (chromosome 22) is central and presents with bilateral acoustic neuromas and sensi‐neural deafness rather than skin lesions

Question 4

Associations of Neurofibromatosis

Answer 4

1. Phaeochromocytoma (2%)
2. Renal artery stenosis (2%)

Question 5

Complications of Neurofibromatosis

Answer 5

1. Epilepsy
2. Sarcomatous change (5%)
3. Scoliosis (5%)
4. Mental retardation (10%)

Question 6

Causes of enlarged nerves and peripheral neuropathy

Answer 6

1. Neurofibromatosis
2. Leprosy
3. Amyloidosis
4. Acromegaly
5. Refsum’s disease