Table 2

 Differential diagnosis of neurofibromatosis 1 (NF1)10,18–24

Other forms of neurofibromatosis
• Segmental/mosaic NF1
• Watson syndrome
• Autosomal dominant multiple café au lait patches alone (some allelic with NF1)
• Neurofibromatosis 2
• Schwannomatosis
Other conditions with café au lait patches
• McCune–Albright syndrome
• DNA repair syndromes
• Homozygosity for one of the genes causing hereditary non-polyposis cancer of the colon.
Conditions with pigmented macules confused with NF1
• LEOPARD syndrome
• Neurocutaneous melanosis
• Peutz–Jeghers syndrome
• Piebaldism
Localised overgrowth syndromes
• Klippel–Trenauny–Weber syndrome
• Proteus syndrome
Conditions causing tumours confused with neurofibromas
• Lipomatosis
• Banayan–Riley–Ruvalcuba syndrome
• Fibromatoses
• Multiple endocrine neoplasia type 2B