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
Von Recklinghausen neurofibromatosis
Wide spread thickening of nerves due to tumors forming within them
Etiology:
Mutations of NF1 and NF2 genes:
- 50% spontaneous
- 50% AD
Clinical:
- 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
Management:
- Excision of selected tumors – if symptomatic/unsightly
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