image of Neurocutaneous Disorders

Neurocutaneous Disorders

Publication Year:
2022
Edition:
3rd Ed.
Author:
Christos P. Panteliadis; Ramsis Benjamin; Christian Hagel
Publisher:
Springer Nature
ISBN:
978-3-03-087892-4
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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.

Details
Platform:
OvidSP
Publisher:
Springer Nature
Product Type:
Book
Author:
Christos P. Panteliadis; Ramsis Benjamin; Christian Hagel
ISBN:
978-3-03-087892-4
Specialty:
  • Biochemistry & Biophysics
  • Dermatology
  • Ophthalmology
  • Pathology
Language:
English
Edition:
3rd Ed.
Pages:
550
Publication Year:
2022

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