Dermatology

Question 1

Neurofibromatosis type 1

- diagnostic criteria

Answer 1

2 or more of:

• 6 or more cafe au lait macules
• 2 or more neurofibromas
• freckling in axilla or inguinal regions
• 2 or more lisch nodules
• optic glioma
• 1st degree relative with NF-1

Question 2

Neurofibromatosis chromosome locations + inheritance

Answer 2

NF1 = Chr 17
NF2 = Chr 22

Autosomal dominance

Question 3

Neurofibromatosis type 2 diagnostic criteria

Answer 3

• bilateral 8th nerve masses on CT or MRI
  OR
• 1st degree relative with NF2 and either unilateral 8th nerve mass OR 2 of: neurofibroma, meningioma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacity

Question 4

Neurofibromatosis clinical features

Answer 4

Skin:

• cafe au lait
• neurofibromas - previous excisions

Neurological:

• radicular pain due to nerve compression
• visual problems due to optic gliomas
• hearing problems - acoustic neuroma
• epilepsy - due to CNS tumours
• history of brain tumour - optic glioma is most common
• learning difficulties

Bones:
- lordosis/kyphosis

Other:
- hypertension: renal artery stenosis, associated with phaeochromocytoma and coarctation of the aorta