clinical features
Last reviewed 01/2018
The presentation is with brown streaky patches on the skin, particularly on the limbs. These are filled with eosinophils, and have a whorled appearance but do not follow the distribution of peripheral nerves. The rash typically changes postion with time.
This condition is characterised by developmental delay, disturbed dentition and eye defects - the retina is dysplastic. There may be seizures.