Station 3.26: Neurofibromatosis Flashcards
Neurofibromatosis
1
Q
What are the clinical signs of Neurofibromatosis?
Neurofibromatosis
Examine this patient’s skin
A
- Cutaneous neurofibromas: two or more
- Café au lait patches: six or more, >15 mm diameter in adults
- Axillary freckling
- Lisch nodules: melanocytic hamartomas of the iris
- Blood pressure: hypertension (associated with renal artery stenosis and phaeochromocytoma)
- Examine the chest: fine crackles (honeycomb lung and fibrosis)
- Neuropathy with enlarged palpable nerves
- Visual acuity: optic glioma/compression
2
Q
Discussion
Discussion of Neurofibromatosis?
Neurofibromatosis
Examine this patient’s skin
A
- 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
3
Q
Discussion - Associations
Associations of Neurofibromatosis?
Neurofibromatosis
Examine this patient’s skin
A
Phaeochromocytoma (2%)
Renal artery stenosis (2%)
4
Q
Discussion - Complications
Complications of Neurofibromatosis?
Neurofibromatosis
Examine this patient’s skin
A
- Epilepsy
- Sarcomatous change (5%)
- Scoliosis (5%)
- Mental retardation (10%)
5
Q
Discussion - Complications
What are theCauses of enlarged nerves and peripheral neuropathy ?
Neurofibromatosis
Examine this patient’s skin
A
- Neurofibromatosis
- Leprosy
- Amyloidosis
- Acromegaly
- Refsum’s disease
