(Ebook) Neurocutaneous Disorders 1st edition by Steve Roach, Van Miller 0511162015 9780511162015

(Ebook) Neurocutaneous Disorders 1st edition by Steve Roach, Van Miller 0511162015 9780511162015

Neurocutaneous Disorders 1st edition by E. Steve Roach, Van S. Miller - Ebook PDF Instant Download/DeliveryISBN:  0511162015, 9780511162015  

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ISBN-10 :  0511162015 

ISBN-13 :  9780511162015

Author:   E. Steve Roach, Van S. Miller 

The neurocutaneous disorders comprise neurological syndromes featuring skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, and psychiatric syndromes or seizures. This is an authoritative, illustrated, up-to-the-minute, clinical review of these disorders and will be essential reading for neurologists and dermatologists

Neurocutaneous Disorders 1st Table of contents:

1 Introduction
2 Genetics of neurocutaneous disorders
Introduction
Inheritance patterns
Types of mutations
Penetrance, expressivity, mosaicism, and genetic heterogeneity
Autosomal dominantly inherited neurocutaneous disorders
Autosomal dominant genetic disorders caused by mutations at one genetic locus
Autosomal dominant neurocutaneous disorders with genetic heterogeneity
Autosomal dominant neurocutaneous disorders without an identified causative gene
Autosomal recessively inherited neurocutaneous disorders
Autosomal recessive neurocutaneous disorders caused by mutations at one genetic locus
Autosomal recessive neurocutaneous disorders with genetic heterogeneity
Neurocutaneous disorders with X-linked inheritance
X-linked recessive neurocutaneous disorders caused by mutations at one genetic locus
X-linked dominant neurocutaneous disorders with genetic heterogeneity
Neurocutaneous disorders with genetic heterogeneity resulting in varied inheritance patterns
Neurocutaneous disorders resulting from mosaicism
REFERENCES
3 Clinical recognition
Introduction
The genetic approach in medicine
Approach to the patient with genetic disease
Recognizing inheritance mechanisms
Types of genetic testing
Cytogenetics
Biochemical/metabolic testing
Gene (DNA) testing
The dysmorphology examination
Approach to the child with congenital anomalies: categories and terminology
Isolated anomalies
Sequences: single anomalies with multiple consequences
Multiple congenital anomalies
General characteristics of neurocutaneous disorders
Clinical findings important for the recognition of neurocutaneous disorders
Macrocephaly
Microcephaly
Intracranial hamartomas and intracranial calcifications
Neurologic symptoms
Skin phakomas
Skin tumors
Miscellaneous dermatologic findings
Other clinical findings
Cancer predisposition
Synopsis of selected neurocutaneous disorders
Arteriovenous malformations of the brain (108010)
Ataxia?telangiectasia (208900)
Bannayan?Riley?Ruvalcaba syndrome (153480)
Basal cell nevus syndrome (109400)
Cerebellotrigeminal?dermal dysplasia (601853)
Cerebral cavernous malformations (116860)
Cowden disease (158350)
Encephalocraniocutaneous lipomatosis (no McKusick number)
Epidermal nevus syndrome (Nevus Sebaceus of Jadassohn ? 163200)
Erythrokeratoderma with ataxia (133190)
Hypomelanosis of Ito (146150)
Ichthyosis and male hypogonadism (Rud syndrome ? 308200)
Incontinentia pigmenti (308300)
Sturge?Weber and Klippel?Trenauney?Weber syndromes (149000)
Neurocutaneous angioma, hereditary (106070)
Neurocutaneous melanosis (249400)
Neurofibromatosis-1 (162200)
Neurofibromatosis-2 (101000)
Osler?Weber?Rendu syndrome-1 (hereditary hemorrhagic telangiectasia-1, 187300)
Osler?Rendu?Weber syndrome-2 (hereditary hemorrhagic telangiectasia-2, 600376)
Proteus syndrome (176920)
Trichorrhexis nodosa syndrome (275550), Amish Hair?Brain syndrome (234050)
Tuberous sclerosis (191100)
Von Hippel?Lindau syndrome (193300)
REFERENCES
4 Neurofibromatosis type 1
Introduction
History
Diagnostic criteria
Variability
Clinical manifestations
Pigmentary
Caf?-au-lait macules
Freckling
Lisch nodules
Tumors
Neurofibromas
Plexiformneurofibroma
Optic pathway glioma
Malignant peripheral nerve sheath tumor
Other malignancies
Orthopedic changes
Central nervous system
Learning disabilities
Cerebrovascular abnormalities
Molecular genetics
Conclusions
REFERENCES
5 Neurofibromatosis type 2
Introduction
Clinical manifestations
Radiographic findings
Pathology
Genetics
Modifying factors
Management issues
The future
REFERENCES
6 Tuberous sclerosis complex
Introduction
Clinical manifestations
Skin lesions
Retinal lesions
Cardiac lesions
Renal lesions
Pulmonary dysfunction
Neurologic dysfunction
Radiologic findings
Genetic basis and pathogenesis
Management issues
REFERENCES
7 Von Hippel?Lindau disease
Introduction
Clinical features
Neurological features
Genetics
Treatment
REFERENCES
8 Neurocutaneous melanosis
Clinical features
Skin findings
Neurological findings
Neuroimaging findings
Pathogenesis
Management
REFERENCES
9 Nevoid basal cell carcinoma (Gorlin) syndrome
Introduction
Clinical manifestations (Tables 9.1, 9.2)
Craniofacial features
Eyes
Skin
Odontogenic keratocysts
Musculoskeletal and radiographic findings
Kidney anomalies
Hypogonadism in males
Medulloblastoma, other brain tumors and seizures
Cardiac fibroma
Mesenteric cysts
Ovarian fibromas and fibrosarcomas
Fetal rhabdomyoma
Miscellaneous other tumors
Radiographic findings
Genetic basis
Differential diagnosis
Management issues
REFERENCES
10 Epidermal nevus syndromes
Introduction
Clinical manifestations
Cutaneous manifestations
Neurologic manifestations
Ocular manifestations
Skeletal manifestations
Endocrine abnormalities
Other extracutaneous manifestations
Malignancy
Radiographic findings
Histopathologic features
Genetic basis and pathogenesis
Genetics and mosaicism
Pathogenesis of cutaneous phenotypes
Pathogenesis of extracutaneous phenotypes
Management issues
REFERENCES
11 Multiple endocrine neoplasia type 2
Introduction
Clinical manifestations
Radiologic aspects
Pathology
Genetic basis
Clinical management
REFERENCES
12 Ataxia?telangiectasia
Clinical features
Skin and scleral findings
Neurological findings
Immunodeficiency and cancer risk
Pathology
Differential diagnosis
Laboratory diagnosis
Genetics
Management
REFERENCES
13 Incontinentia pigmenti
Introduction
Clinical features (Table 13.1)
Skin
Stage 1: The bullous stage
Stage 2: The verrucous stage
Stage 3: The hyperpigmentation stage
Stage 4: The atretic stage
Hair
Breast
Teeth
Nails
Skeletal
Ophthalmologic
Dermatopathology
Peripheral blood
Neurological
Differential diagnosis
Genetics
Management
REFERENCES
14 Hypomelanosis of Ito
Introduction
Clinical manifestations
Skin
Oral
Nervous system
Tumors
Musculoskeletal
Eyes
Other anomalies
Prognosis
Differential diagnosis
Radiological findings
Pathological features
Etiology
Management issues
REFERENCES
15 Cowden disease
Introduction
Clinical manifestations
Related disorders
Radiographic findings
Genetics
Neuropathology
Therapy
Conclusions
REFERENCES
16 Pseudoxanthoma elasticum
History
Genetics
Clinical features
Skin
Eyes
Cardiovascular gastrointestinal, and pulmonary effects
Pregnancy
Neurological effects
Diagnosis
Management
REFERENCES
17 Ehlers?Danlos syndrome
Introduction
Clinical manifestations
Aneurysm
Carotid-cavernous fistula
Arterial dissection
Other types of EDS
Genetics of EDS type IV
Conclusions
REFERENCES
18 Hutchinson?Gilford progeria syndrome
Introduction
Clinical manifestations
Differential diagnosis
Genetic basis and pathogenesis
Management issues
REFERENCES
19 Blue rubber bleb nevus syndrome
Introduction
Clinical features
Neurological complications
Pathology
Genetics
Treatment
Acknowledgment
REFERENCES
20 Hereditary hemorrhagic telangiectasia (Osler?Weber?Rendu syndrome)
Introduction
Genetic basis
Clinical manifestations
Neurological manifestations
Neurological complications secondary to pulmonary AVM
Neurological complications due to brain vascular malformations
Migraine HA
Management
Diagnostic criteria
Screening
REFERENCES
21 Hereditary neurocutaneous angiomatosis
Introduction
Clinical manifestations
Cutaneous manifestations
Cerebral manifestations
Epilepsy
Cerebral hemorrhage
Chronic cerebral ischemia
Bruit and heart failure
Spinal syndromes
Radiological features
Cutaneous lesions
Intracranial lesions
Pathological features
Cutaneous lesions
Intracranial lesions
Genetic basis
Differential diagnosis
Phakomatoses
Neurocutaneous vascular hamartomas
Multiple (systemic) hemangiomatosis
Wyburn?Mason syndrome
Blue rubber bleb nevus syndrome
Cutaneomeningospinal angiomatosis
Management and prognosis
Management
Vascular nevi
Cerebral arteriovenous malformations
Developmental venous anomalies
Prognosis
REFERENCES
22 Cutaneous hemangiomas: vascular anomaly complex
Introduction
Clinical manifestations
Clinical course
Pathologic features
Radiological findings
Cerebellar malformations
Vascular abnormalities
Genetic basis
Management
Interferon
Intralesional photocoagulation
Thalidomide
REFERENCES
23 Sturge?Weber syndrome
Introduction
Clinical manifestations
Cutaneous features
Neurological features
Ophthalmologic features
Radiographic features
Pathology of Sturge?Weber syndrome
Treatment
Prognosis
REFERENCES
24 Lesch?Nyhan syndrome
Introduction
Clinical manifestations
Clinical features resulting from hyperuricemia
Other clinical manifestations
The defective enzyme
Other variants of HPRT
Radiographic findings
Pathologic features
Genetic basis
Heterozygote detection
Prenatal diagnosis
Management and prognosis
Behavior modification
Gene therapy ? bone marrow transplantation
Prognosis
REFERENCES
25 Multiple carboxylase deficiency
Introduction
Holocarboxylase synthetase deficiency (early-onset MCD)
Clinical manifestations
Radiographic features
Diagnostic evaluations
Genetics
Biotinidase deficiency (late onset MCD)
Clinical manifestations
Radiographic features
Diagnostic evaluations
Pathology
Genetics
Treatment
REFERENCES
26 Homocystinuria due to cystathionine Beta-synthase (CBS) deficiency
Introduction
Clinical manifestations
Eye
Central nervous system
Skeleton
Vascular system
Hair and skin
Other clinical manifestations
Clinical variability and natural history
Radiographic findings
Pathologic features
Eye
Skeletal system
Vascular system
Central nervous system
Genetic basis
Management and prognosis
REFERENCES
27 Fucosidosis
Clinical features
Type I (rapid progression)
Type II (chronic form)
Radiographic features
Pathology
Biochemistry
Enzyme
Natural substrates
Genetics
Pathophysiology
Differential diagnosis
Management and prognosis
REFERENCES
28 Menkes disease
Introduction
Clinical manifestations
Classical Menkes disease
The Occipital Horn syndrome (formerly X-linked Cutis Laxa; Ehlers?Danlos syndrome Type IX)
Intermediate phenotypes
Radiographic findings and other investigations
Classical Menkes disease
The occipital horn syndrome and the intermediate phenotypes
Pathologic features
Connective tissue
Skin and hair
Arteries
Bone and cartilage
Lung
Neuropathology
Other changes
Physiopathology
Normal copper metabolism
Cellular copper transport
Copper homeostasis in Menkes disease
Neurological changes
Connective tissue and other changes
Genetic basis
Diagnosis
Carrier identification and prenatal diagnosis
Management and prognosis
REFERENCES
29 Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
Introduction
DNA damage and repair
History
Clinical manifestations
Xeroderma pigmentosum
Epidemiology
Dermatology
Neurology (DeSanctis?Cacchione syndrome)
Ophthalmology
Miscellaneous
Cockayne syndrome
Trichothiodystrophy
Neurologic and radiologic investigations
Xeroderma pigmentosum
Cockayne syndrome
Trichothiodystrophy
Neuropathology
Genetic classification
Molecular defects in xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
Neurogenetics
Treatment
Conclusions
REFERENCES
30 Cerebrotendinous xanthomatosis
Introduction
Clinical features
Radiographic findings
Further investigations
Metabolic and pathologic features
Biochemistry: normal bile acid synthesis
Bile acid synthesis in CTX: sterol 27 hydroxylase (CYP 27) deficiency
Pathology
Central nervous system
Peripheral nervous system
Genetics
Genotype?phenotype correlations
Therapy
Management issues
REFERENCES
31 Adrenoleukodystrophy
Introduction
Clinical features
Neurologic findings
Adrenocortical dysfunction
Cutaneous abnormalities
Radiological features
Pathological features
Genetics and pathophysiology
Treatment and counseling issues
REFERENCES
32 Peroxisomal disorders
Introduction
Refsum disease
Clinical features of Refsum disease
Pathology of Refsum disease
Genetics of Refsum disease
Diagnosis of Refsum disease
Management of Refsum disease
Rhizomelic chondrodysplasia punctata
Clinical features of RCDP
Genetics of RCDP
Diagnosis of RCDP
Differential diagnosis of RCDP
Sj?gren?Larsson syndrome
Clinical features of SLS
Pathology of SLS
Genetics of SLS
Diagnosis of SLS
Management of SLS
REFERENCES
33 Familial dysautonomia
Introduction
Clinical manifestations
Gastrointestinal
Respiratory
Orthopedic
Ophthalmologic
Dermatologic
Vascular
Renal
Neurologic
Radiographic findings
Pathologic features
Genetic basis
Management
Prognosis
REFERENCES
34 Fabry disease
Clinical features
Neurological complications
Pathology of Fabry disease
Genetics of Fabry disease
Diagnosis
Treatment of Fabry disease
REFERENCES
35 Giant axonal neuropathy
Introduction
Clinical manifestations
Radiographic findings
Pathologic features
Genetic basis
Management and prognosis
REFERENCES
36 Chediak?Higashi syndrome
Introduction
Clinical manifestations
Skin and ocular involvement
Recurrent infections
Neurological abnormalities
Coagulation defects
The accelerated phase
Pathologic features
Genetic basis
Management and prognosis
REFERENCES
37 Encephalocraniocutaneous lipomatosis
Clinical manifestations
Radiographic features
Pathology
Genetics
Management and prognosis
REFERENCES
38 Cerebello-trigemino-dermal dysplasia
Introduction
Clinical manifestations (Figs. 38.1, 38.2)
Radiographic findings
Pathologic features
Genetic basis
Management and prognosis
Acknowledgment
REFERENCES
39 Coffin?Siris syndrome: clinical delineation, differential diagnosis and long-termevolution
Introduction
Clinical manifestations
Pathologic and radiographic findings
Genetic basis
Differential diagnosis
Cognitive development
REFERENCES
40 Lipoid proteinosis
Introduction
Clinical manifestations
Neurological complications
Radiological features
Pathologic features
Differential diagnosis
Genetics
Management issues
REFERENCES
41 Macrodactyly?nerve fibrolipoma
Introduction
Clinical manifestations
Diagnostic studies
Pathology
Pathogenesis
Management
REFERENCES

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