Table. Diagnostic criteria for the neurofibromatoses (1, e64, e65).

Type 1 neurofibromatosis (NF1) [3,4]	Type 2 neurofibromatosis (NF2) [e66]	Schwannomatosis [e67]
Two or more of the following features
– ≥ 6 café-au-lait spots (> 5 mm before puberty, > 15 mm after puberty) – ≥ 2 neurofibromas or ≥ 1 plexiform neurofibroma – axillary or inguinal freckling – ≥ 2 Lisch nodules (iris hamartomas) – optic nerve glioma – typical bony changes (dysplasia of sphenoid bone, thinning of cortex in long bones [with or without pseudarthrosis]) – first-degree relative with NF1	Definite: bilateral vestibular nerve schwannomas (VS) or – NF2 in a first-degree relative and – unilateral VS and age < 30 or – two of the following: meningioma, glioma, schwannoma, juvenile posterior lens opacification/juvenile cortical cataract Possible or probable: – unilateral VS and age < 30 and at least one of the following: meningioma, glioma, schwannoma, juvenile posterior lens opacification/juvenile cortical cataract – > 2 meningiomas and VS and age < 30 or one of the following: glioma, schwannoma, juvenile posterior lens opacification/juvenile cortical cataract	Definite: age > 30 and ≥ 2 non-intradermal schwannomas, of which at least one has been histologically confirmed, and no evidence of VS on high-resolution MRI and no constitutional NF2 mutation or 1 histologically confirmed non-vestibular schwannoma and a first-degree relative who meets the above criteria Possible: age < 30 and 2 non-dermal schwannomas, of which at least one has been histologically confirmed, and no evidence of vs on high-resolution mri and no constitutional nf2 mutation or age > 45 and ≥ 2 non-dermal schwannomas, of which at least one has been histologically confirmed, and no manifestations of eighth cranial nerve dysfunction and no constitutional NF2 mutation or radiological evidence of a non-vestibular schwannoma and a first-degree relative who meets the criteria for definite schwannomatosis
Genetic tests [1]: blood analysis for constitutional mutations and tumor analysis (if tumor material is available, fixed or frozen) for somatic mutations (mosaics)
NF1 gene analysis	NF2 gene analysis	NF2 gene analysis—SMARCB1/INI1, LZTR1