Table 1.

Diagnostic criteria of Neurofibromatosis type 1(NF1)

Clinical diagnosis of NF1 is established when two or more of the following are seen in a patient:

i. Six or more cafe’ au lait macules with size over 5 mm in prepubertal individuals and over 15 mm in postpubertal individuals

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

iii. Two or more Lisch nodules (iris hamartomas)

iv. Freckling in the axillary or inguinal region

v. Optic nerve glioma

vi. One or more distinctive osseous lesions like sphenoid dysplasia, pseudoarthrosis

vii. First degree relative with NF1 by the above criteria