Journal Mobile

SM Huson
Journal Issue: 
Volume 36: Issue 1: 2006




Until modern methods of clinical and scientific research were applied to neurofibromatosis (NF) over the last 30 years, the disease was largely regarded as  a  medical  curiosity.   In  1987, a  NIH  consensus  conference  agreed  a  disease classification  system  and  diagnostic  criteria  for  the  two  main  forms.  They  are defined   by   the   presence/absence   of   specific   nervous   system   tumours (neurofibromas   in   NF1,  schwannomas   in   NF2),  skin   pigmentation,  and ophthalmological  features.  The  recognition  of  the  different  types  is  not  just  an academic exercise (and one geneticists are fond of!), because the natural history and management of each type is distinct.

One important feature in both forms of neurofibromatosis, and indeed in other phakomatoses like tuberous sclerosis, is that the different disease features develop at  different  ages.  For  example  in  NF1, the  café-au-lait  spots  develop  during  the first two years of life but dermal neurofibromas are unusual before the late teens or early twenties.  Despite developments in molecular diagnosis it is probably still more cost effective to refer unusual patients to a specialist clinic prior to testing.