Neurofibromatosis: inherited disorder

This condition is inherited as an autosomal dominant disorder. The severity of expression varies remarkably from generation to generation.

The other unusual thing about type 1 neurofibromatosis is that half the cases are new mutations, i.e. there is no family history of the disorder.

These neurofibromas develop after puberty. Before this, patients with the mutation will show six or more café au lait spots on the skin and many also have bilateral axillary freckling. Lisch nodules, which are pigmented hamartomas

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