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Table 1 Diagnostic criteria for neurofibromatosis type 1 according to the National Institutes of Health [8]

From: Breast cancer associated with neurofibromatosis type 1: a case series and review of the literature

Diagnostic criteria for neurofibromatosis type 1

1.

Six or more café-au-lait macules over 5mm in diameter in prepubertal individuals and over 15mm in diameter in postpubertal individuals.

2.

Two or more neurofibromas of any type or one plexiform neurofibroma.

3.

Freckling in the axillary or inguinal region.

4.

Optic glioma.

5.

Two or more Lisch nodules (iris hamartomas).

6.

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

7.

A first-degree relative (parent, sibling or offspring) with neurofibromatosis type 1 as diagnosed by the above criteria.