Double phakomatosis; neurofibromatosis type-1 and tuberous sclerosis.

Abstract

Neurocutaneous syndromes represent some of the most common inherited disorders of the nervous system. Neurofibromatosis type-1 (NF-1) and tuberous sclerosis are well described. Yet, the presentation of both syndromes in the same patient is quite rare. We performed a thorough review of the literature of such double phakomatosis including pattern of inheritance. Eleven cases were reported in the literature. In addition we report a young patient who presented with clinical picture suggestive of both NF-1 and tuberous sclerosis, and present a radiographic and histopathological description of the case.