Main description:

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.

Contents:

Preface Introduction Part I: Aetiology and diagnostics of neurocutaneous disorders1 Genetics of neurocutaneous syndromes2 Superimposed mosaicism in neurocutaneous disorders3 Neuro-Imaging in Neurocutaneous Disorders 4 Neuropathology of neurocutaneous disorders Part II: Developmental malformations5 Sturge-Weber syndrome 6 Ataxia-Telangiectasia (Louis-Bar syndrome)7 Hypomelanosis of Ito (Incontinentia pigmenti achromians8 Incontinentia pigmenti (Bloch-Sulzberger syndrome)9 Klippel-Trenaunay syndrome (Klippel-Trenaunay-Weber syndrome 10 Epidermal naevus syndrome and Linear naevus sebaceous syndrome11 Neurocutaneous melanosis 12 Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome 13 Cowden disease and Lhermitte-Duclos disease 14 Cutaneomeningospinal angiomatosis (Cobb syndrome)15 Cutis marmorata telangiectatica congenita (Van Lohuizen's syndrome)16 Encephalocraniocutaneous lipomatosis (Haberland syndrome 17 LEOPARD syndrome (multiple lentigines; Lentiginosis profusa18 MIDAS syndrome (Microphthalmia with linear skin defects)19 Oculocerebrocutaneous syndrome (Delleman syndrome)20 Oro-facio-digital syndrome21 PHACE syndrome22 Proteus syndrome23 Wyburn-Manson syndrome24 Cerebello-trigemino-dermal (Gomez-Lopez-Hernandez syndrome)25 Vascular tumours (haemangiomas)Part III: Tumour suppressor/DNA-repair disorders 26 Neurofibromatosis 1 and 227 Tuberous sclerosis (Bourneville disease)28 Angiomatosis of the Retina and the Cerebellum (von Hippel-Lindau disease)29 Naevoid basal cell carcinoma (GORLIN-GOLTZ syndrome)30 Cockayne syndrome31 Xeroderma pigmentosum (Kaposi dermatosis)Part IV: Defects of enzymes and structural proteins 32 Cerebrotendinous xanthromatosis33 Chediak-Higashi syndrome 34 CHILD syndrome35 Dorfman - Chanarin syndrome 36 Ehlers-Danlos syndrome37 Ichthyoses - Trichothiodystrophy - TAY syndrome 38 Rud syndrome 39 HID/KID syndrome 40 Hutchinson-Gilford progeria syndrome 41 Lipoid Proteinosis (Urbach-Wiethe syndrome)42 McCune-Albright disease43 Menkes syndrome (Kinky hair disease; Tricholiodystrophy 44 Refsum disease (Heredopathis atactica polyneuritiformis 45 Sjoegren-Larsson syndrome 46 Fabry disease Part V: Specific aspects in the management of neurocutaneous disorders47 Ocular manifestations of neurocutaneous syndromes 48 Neurosurgical management of neurocutaneous disorders 49 Neurosurgery in infant's with TBC50 Managing Epilepsy in Neurocutaneous Disorders51 Orthopedic problems and therapy in neurocutaneous disorders 52 Improving quality of life in neurocutaneous disorders