Concerning Neurofibromatosis Type 1 (NF1), which one of the following statements is true?
A) Bilateral acoustic neuromas are common
B) Clinical severity in individuals is similar in a given family
C) New mutations occur rarely
D) Pigmented spots on the iris are a characteristic feature
E) The diagnosis is likely if two café-au-lait patches are present
Answer:
D: Pigmented spots on the iris are a characteristic feature
Discussion:
- Lisch nodules of the iris are present in more than 90% of patients.
- Bilateral acoustic neuromas is a hallmark feature of neurofibromatosis type 2.
- Expressivity of the gene is highly variable and members of the same family usually show wide differences in clinical symptoms.
- NF1 is one of the most common autosomal dominant conditions. However almost half of all cases give no family history and are new mutations. The mutation rate is estimated to be 1:10,000 gametes.
- The diagnosis is suggested by six or more café- au- lait macules (spots), each over 5 mm in diameter in prepubescent individuals and over 15 mm in postpubertal individuals.
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