Chapter 135 :: The Neurofibromatoses

Question 1

Diagnostic Criteria for Neurofibromatosis Type 1

Answer 1

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■

Six or more café-au-lait macules larger than 5 mm in greatest

diameter in prepubertal individuals, and larger than 15 mm in

greatest diameter in postpubertal individuals.

Two or more neurofibromas of any type

neurofibroma.

or

1 plexiform

■ Freckling in the axillary or inguinal regions.

■ Optic glioma.

■ Two or more iris Lisch nodules.

■ A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudarthrosis.

■

A first-degree relative (parent, sibling, or offspring) with neurofibro-

matosis Type 1 by the above criteria.