Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach

ISBN-13: 9783030878924 / Angielski / Twarda / 2022

Panteliadis, Christos P.

Opis

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.

Spis treści

Preface

Introduction 

Part I: Aetiology and diagnostics of neurocutaneous disorders

1 Genetics of neurocutaneous syndromes

2 Superimposed mosaicism in neurocutaneous disorders

3 Neuro-Imaging in Neurocutaneous Disorders 

4 Neuropathology of neurocutaneous disorders 

Part II: Developmental malformations

5 Sturge-Weber syndrome 

6 Ataxia-Telangiectasia (Louis-Bar syndrome)

7 Hypomelanosis of Ito (Incontinentia pigmenti achromians

8 Incontinentia pigmenti (Bloch-Sulzberger syndrome)

9 Klippel-Trenaunay syndrome (Klippel-Trenaunay-Weber syndrome 

10 Epidermal naevus syndrome and Linear naevus sebaceous syndrome

11 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 profusa

18 MIDAS syndrome (Microphthalmia with linear skin defects)

19 Oculocerebrocutaneous syndrome (Delleman syndrome)

20 Oro-facio-digital syndrome

21 PHACE syndrome

22 Proteus syndrome

23 Wyburn-Manson syndrome

24 Cerebello-trigemino-dermal (Gómez-López-Hernández syndrome)

25 Vascular tumours (haemangiomas)

Part III: Tumour suppressor/DNA-repair disorders 

26 Neurofibromatosis 1 and 2

27 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 syndrome

31 Xeroderma pigmentosum (Kaposi dermatosis)

Part IV: Defects of enzymes and structural proteins  

32 Cerebrotendinous xanthromatosis

33 Chédiak-Higashi syndrome 

34 CHILD syndrome

35 Dorfman – Chanarin syndrome 

36 Ehlers-Danlos syndrome

37 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 disease

43 Menkes syndrome (Kinky hair disease; Tricholiodystrophy 

44 Refsum disease (Heredopathis atactica polyneuritiformis 

45 Sjögren-Larsson syndrome 

46 Fabry disease 

Part V: Specific aspects in the management of neurocutaneous disorders

47 Ocular manifestations of neurocutaneous syndromes 

48 Neurosurgical management of neurocutaneous disorders 

49 Neurosurgery in infant's with TBC

50 Managing Epilepsy in Neurocutaneous Disorders

51 Orthopedic problems and therapy in neurocutaneous disorders 

52 Improving quality of life in neurocutaneous disorders

O autorze

Prof. Dr. med. Christos P. Panteliadis. Medical education at Universities of Vienna (Austria) and Kiel (Germany). Training as pediatrician at the hospitals of Thessaloniki (Greece) and principal in St. Georg Hospital Hamburg (Germany). Specialisation in Neuropaediatrics in Frankfurt, Hamburg and other Medical Schools in Germany. Professor of Paediatrics, Paediatric Neurology and Developmental Medicine at Aristotle University, Thessaloniki, and Director of the 3rd Pediatric Department at Ippokraton Hospital Thessaloniki. Administrative work in the health system in northern Greece. Retired in 2010. Since then been active at a private clinic. Has organized several conferences, workshops, symposia and further education courses; Has established the Society of Paediatric Neurology in Greece and was the president of this society for many years, and president of Northgreece paediatricians. Is the author of several articles and textbooks for students and paediatricians, neuropaediatricians and neurologists in Greece, and in Editorial board of Medical journals. Has edited three editions of “Paediatric Neurology” in English; three editions of “Neuropaediatrie - Evidenzbasierte Therapie” in German; two editions of “Neurocutaneous Disorders - A Clinical, Diagnostic and Therapeutic Approach” in English; and three editions of “Cerebral Palsy - A Multidisciplinary Approach” in English.

Ramsis Benjamin, MD, MPH. Associate Clinical Professor at the University of Washington, in Seattle, and Associate Professor at Oregon Health and Science University, in Portland, Oregon, USA. Practices General Neurology, Adolescents and Adults, and Electrophysiology at Kootenai Health, Coeur d'Alene, Idaho.

Prof. Dr. med. Christian Hagel. Medical education at the University of Hamburg (Germany) and Newcastle upon Tyne (United Kingdom), Senior consultant of neuropathology at the Institute of Neuropathology, University of Hamburg Medical School, Head of the German Reference Centre of CSF-cytology for brain tumours in childhood.  Research areas neuro-oncology, rare neurological diseases, vasculopathies.