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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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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.


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