von Recklinghausen disease

Today the amuse-bouche was a case of von Recklinghausen disease, better known as neurofibromatosis type 1.

A few points about NF-1:

•It is a neurocutaneous syndrome resulting from a mutation in NF1 gene
–Autosomal dominant inheritance

–1/2 are familial; 1/2 new mutations
–New mutations primarily in paternal chromosomes
–Complete penetrance but variable expression

•At least 2 of the following features needed to make the diagnosis:
–6 or more café-au-lait macules
–2 or more neurofibromas of any type or one plexiform neurofibroma
–Freckling in the axillary or inguinal regions
–Optic glioma
–2 or more Lisch nodules (iris hamartomas)
–A distinctive bony lesion such as sphenoid dysplasia or thinning of the long bone cortex

–A first-degree relative (parent, sibling, or offspring) with NF1 based upon the above criteria

See here for a good review paper in the Lancet