Neurofibromatosis type 1 and type 2 — branching viva

Outpatient clinic: a three-year-old girl with eight cafe-au-lait macules and axillary freckling, a normal developmental screen, and a father with a few cafe-au-lait spots and a single cutaneous lump. The examiner asks: what diagnostic criteria do you apply and does she meet them, what is the molecular basis, how would you explain the diagnosis and recurrence risk to the family, and what is the surveillance plan — then branches to a painful, rapidly enlarging lump on her thigh and asks how you would assess and investigate it, and finally to a 17-year-old with unilateral hearing loss and a family history of vestibular schwannoma and asks how this is a different disease.