====== Neurofibromatosis type I ====== ===== Diagnostic Criteria ===== **Two or More of the following** * 6 or more **café-au-lait spots** * >5 mm in greatest diameter prepubertal children * >15 mm in greatest diameter in postpubertal individuals * Axillary or inguinal **freckling** * 2 or more cutaneous **neurofibromas** * 1 plexiform neurofibroma * 2 or more **Lisch nodules** * [[https://www.nejm.org/doi/full/10.1056/NEJM199105023241807|Lisch nodules in NF-1. Lubs et al. NEJM 1991]] * **Optic nerve glioma** * A characteristic **bony lesion** * sphenoid wing hypoplasia/dysplasia * thinning of long bone cortex with or without pseudarthrosis (poor ossification or non-union of bone creating a "false joint") * First-degree relative with NF1