Neuropathology of Neurocutaneous Disorders

Neurocutaneous disorder is an umbrella term for a large group of hereditary and sporadic diseases involving both the skin and the nervous system. The various syndromes result from alterations in the development of the neural crest and related structures (in particular the brain and vasculature), or they are due to metabolic defects. In this chapter the neuropathological manifestations of a selection of these syndromes are described. The alterations comprise a wide spectrum of neuropathological conditions including vascular alterations (Sturge-Weber syndrome, Proteus and Klippel-Trenaunay syndrome, etc.), malformations (PHACE syndrome), tumours (neurofibromatosis, tuberous sclerosis complex, von Hippel-Lindau disease, etc.), and metabolic disorders (cerebrotendinous xanthomatosis, Menkes disease, Sjögren-Larsson syndrome) which manifest in different parts of the nervous system.