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Derm SAQs

Derm SAQs ·

Neurofibromatosis type 1 system-based manifestations and treatments: a review. — SAQ

10 marks10 min1 min readVerification in progress
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A patient presents with features suggestive of neurofibromatosis type 1 system-based manifestations and treatments: a review.. NF1 = autosomal dominant (NF1 gene chromosome 17; neurofibromin tumour suppressor). NIH diagnostic criteria (need ≥2 of 7): (1) ≥6 café-au-lait macules (CALMs) >5 mm prepubertal or >15 mm ...

Questions

a) What is the most likely diagnosis and what clinical features support it? (2 marks)

b) What investigations would you arrange to confirm the diagnosis? (3 marks)

c) Outline your management plan for this patient. (3 marks)

d) What are the key complications and prognostic factors? (2 marks)

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