Table of Contents:

Chapter 1.    Introduction

Chapter 2.     Genetics of Neurocutaneous Disorders

Chapter 3.     Clinical Recognition

Chapter 4.     Neurofibromatosis Type I

Chapter 5.     Neurofibromatosis Type 2

Chapter 6.     Tuberous Sclerosis Complex

Chapter 7.     von Hippel-Lindau Disease

Chapter 8.     Neurocutaneous Melanosis

Chapter 9.     Nevoid Basal cell Carcinoma (Gorlin) Syndrome

Chapter 10.   Epidermal Nevus Syndromes

Chapter 11.   Multiple Endocrine Neoplasia Type 2

Chapter 12.   Ataxia-Telangiectasia

Chapter 13.   Incontinentia Pigmenti

Chapter 14.   Hypomelanosis of Ito

Chapter 15.   Cowden Disease

Chapter 16.   Pseudoxanthoma Elasticum

Chapter 17.   Ehlers-Danlos Syndromes

Chapter 18.   Hutchinson-Gilford Progeria Syndrome

Chapter 19.   Blue Rubber Bleb Nevus Syndrome

Chapter 20.   Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu)

Chapter 21.   Hereditary Neurocutaneous Angiomatosis

Chapter 22.   Cutaneous Hemangiomas:  Vascular Anomaly Complex

Chapter 23.   Sturge-Weber Syndrome

Chapter 24.   Lesch-Nyhan Syndrome

Chapter 25.   Multiple Carboxylase Deficiency

Chapter 26.   Homocystinuria Due to Cystathionine β-Synthase (CBS) Deficiency

Chapter 27.   Fucosidosis

Chapter 28.   Menkes Disease

Chapter 29.   Xeroderma Pigmentosum, Cockayne Syndrome and Trichothiodystrophy

Chapter 30.   Cerebrotendinous Xanthomatosis

Chapter 31.   Adrenoleukodystrophy

Chapter 32.   Peroxisomal Disorders

Chapter 33.   Familial Dysautonomia

Chapter 34.   Fabry Disease

Chapter 35.   Giant Axonal Neuropathy

Chapter 36.   Chediak-Higashi Syndrome

Chapter 37.   Encephalocraniocutaneous Lipomatosis

Chapter 38.   Cerebello-Trigemino-Dermal Dysplasia

Chapter 39.   Coffin-Siris Syndrome:  Clinical Delineation; Differential Diagnosis and Long-Term Evolution

Chapter 40.   Lipoid Proteinosis

Chapter 41.   Macrodactyly-Nerve Fibrolipoma