Stevens-Johnson syndrome

NOTE: Not a genetic condition, caused by body reaction to certain medication

  • Erythema multiforme in oral mucosa
  • Photophobia
  • Conjunctivitis
  • Corneal ulceration
  • Genital ulceration
Stevens Johnsons syndrome

Von Recklinghausen neurofibromatosis

Wide spread thickening of nerves due to tumors forming within them


Mutations of NF1 and NF2 genes:

  • 50% spontaneous
  • 50% AD


  • Oral – Neurofibromas, macroglossia
  • CNS – Malignancies, retardation
  • Skin – Café au lait spots – can turn malignant
  • Multiple schwannomas, neurilemmomas, neurinomas
  • Nerves are thick – form elliptical buldges
  • Generalized tumors commonly distributed on arms, legs, chest, back, neck


  • Excision of selected tumors – if symptomatic/unsightly