This book provides extensive data on the more common and many of the more rare congenital and hereditary syndromes that manifest in the nervous system and skin. Though often complex and multi-systemic, these disorders can frequently be diagnosed using a combination of simple visual inspection and sound clinical expertise.

Drawing on fully referenced information from thousands of articles, the international editorial team has prepared a comprehensive overview that includes historical perspectives, clinical features, the pathogenesis, and diagnostic and therapeutic strategies. In addition, it addresses the biochemical, molecular, and genetic basis of the disorders.

The

book is divided into four main sections. Starting with general aspects

of aetiology, diagnostics and therapy, the first part then covers the

genetics, neuro-imaging, neuropathology, ocular manifestations and

surgical management. The second part discusses developmental

malformations, such as Sturge-Weber syndrome, Ataxia-Telangiectasia,

Hypomelanosis of Ito and other rare syndromes, including haemangiomas.

The focus of the third part is on tumour suppressor/DNA repair

disorders, the most common of which is Neurofibromatosis 1. It also

describes Neurofibromatosis 2, Schwannomatosis, Tuberous sclerosis, von

Hippel-Lindau disease, Naevoid basal cell carcinoma and others. The

book’s fourth and final section covers defects in enzymes and structural

proteins, which manifest as Cerebrotendinous xanthromatosis,

Ehlers-Danlos syndrome, Menkes syndrome, Refsum disease.