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Neurofibromatoses in Clinical Practice
Ferner, Huson, Evans
Editore
Springer
Anno
2011
Pagine
162
ISBN
9780857296290
30,00 €
I prezzi indicati possono subire variazioni poiché soggetti all'oscillazione dei cambi delle valute e/o agli aggiornamenti effettuati dagli Editori.
  • Practically focused and accessible including clinical photographs illustrating diagnostic features of NF1, NF2 and differential diagnoses and tables showing diagnostic features and protocols for management.
  • Includes engaging case histories illustrating diagnostic features, screening protocols and investigations.
  • A clinical quiz to reinforce awareness of pitfalls in diagnosis and management and encourages an interactive response from the reader.

Neurofibromatoses in Clinical Practice provides a succinct, accessible guide to the neurofibromatoses including diagnosis, management protocols and indications for referral to specialist centers. Neurocutaneous diseases are complex to diagnose and treat and many patients require specialist multidisciplinary management and surveillance. Due to multiple disease manifestations, patients can present to different clinicians without specialist expertise such as general practitioners, pediatricians, neurologists, geneticists, surgeons and ophthalmologists.

The clinically focused format of this book will enable rapid consultation during clinics, facilitate disease pattern recognition, and indicate care pathways. The clinical quiz highlights common pitfalls in diagnosis and management and a glossary and reference section provide details for access to specialist NF clinics throughout the UK and internationally.

Written by experts in the field Neurofibromatoses in Clinical Practice is a practical guide for consultants in training and practice, general practitioners and specialist nurses.

ix
Contents
1 Neurofibromatosis 1 . . . . . . . . . . . . . . . . . . . . . . . . . . .     1
History of Current Terminology . . . . . . . . . . . . . . . . .     1
Epidemiology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .     2
Mosaic NF1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .     2
Genetics of NF1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .     3
Genetics of Mosaic NF1 . . . . . . . . . . . . . . . . . . .     3
Skin Manifestations of NF1 . . . . . . . . . . . . . . . . . . . . .     4
Café au lait Patches . . . . . . . . . . . . . . . . . . . . . .     4
Freckling . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .     5
Campbell de Morgan Spots . . . . . . . . . . . . . . . .     5
Xanthogranulomas . . . . . . . . . . . . . . . . . . . . . . .     5
Glomus Tumors . . . . . . . . . . . . . . . . . . . . . . . . . .     5
Bone . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .     8
Pseudarthrosis of the Long Bones . . . . . . . . . . .     8
Short Stature . . . . . . . . . . . . . . . . . . . . . . . . . . . .     9
Reduced Bone Mineral Density . . . . . . . . . . . .     10
Scoliosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .     10
Non-ossifying Neurofibromas . . . . . . . . . . . . . .     11
Vertebral Scalloping . . . . . . . . . . . . . . . . . . . . . .     11
Neurological Complications of NF1 . . . . . . . . . . . . . .     11
Neurofibromas . . . . . . . . . . . . . . . . . . . . . . . . . . .     12
Neurofibromatous Neuropathy . . . . . . . . . . . . .     23
Cognitive Impairment . . . . . . . . . . . . . . . . . . . . .     24
Brain Tumors . . . . . . . . . . . . . . . . . . . . . . . . . . . .     25
Optic Pathway Gliomas (OPG) . . . . . . . . . . . . .     27
Presentation of NF1-Opg and Difference
from Sporadic OPG . . . . . . . . . . . . . . . . . .     28
x Contents
Nervous System Malformations . . . . . . . . . . . .     30
Epilepsy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .     32
Multiple Sclerosis . . . . . . . . . . . . . . . . . . . . . . . . 33
Cerebrovascular Disease . . . . . . . . . . . . . . . . . . 33
The Eye (See Section on Neurological
Complications for Optic Pathway
Glioma) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 34
Cardiovascular Disease . . . . . . . . . . . . . . . . . . . . . . . . 35
Hypertension . . . . . . . . . . . . . . . . . . . . . . . . . . . . 35
Respiratory Problems . . . . . . . . . . . . . . . . . . . . . . . . . 36
Gastrointestinal Disease . . . . . . . . . . . . . . . . . . . . . . . 37
Gastrointestinal Stromal Tumor GIST . . . . . . . 37
Carcinoid Tumors . . . . . . . . . . . . . . . . . . . . . . . . 37
Gastrointestinal Neurofibromas
and Dysplastic Lesions . . . . . . . . . . . . . . . 37
Pregnancy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 37
Genetic Diagnosis and Counseling . . . . . . . . . . . . . . .     38
Prenatal Testing . . . . . . . . . . . . . . . . . . . . . . . . . .     38
Genetic Counseling for Patients
with Segmental NF1 . . . . . . . . . . . . . . . . 39
Accuracy and Cost of NF1
Mutation Testing . . . . . . . . . . . . . . . . . . . 39
Assessment and Follow-up of
People with NF1 . . . . . . . . . . . . . . . . . . . . . . . . . 39
Children . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 39
Young People 16–25 Years . . . . . . . . . . . . . . . . . 40
Adults . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 40
Nationally Commissioned “Complex NF1”
Service . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 43
2 Neurofibromatosis Type 2 (NF2) . . . . . . . . . . . . . . . . 47
Terminology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 47
Disease Name and Synonyms . . . . . . . . . . . . . . 47
Diagnosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 48
Epidemiology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 49
Mosaicism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 49
Clinical Manifestations . . . . . . . . . . . . . . . . . . . . . . . . 50
Contents xi
Screening At-Risk Individuals . . . . . . . . . . . . . . . . . . 55
Surveillance . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 57
Managing Affected Children . . . . . . . . . . . . . . . 58
Screening Individuals with Insufficient
Criteria for NF2 . . . . . . . . . . . . . . . . . . . . 58
Genetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 58
Differential Diagnosis . . . . . . . . . . . . . . . . . . . . . . . . . 59
NF2 Management . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 60
Surgery . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 60
Radiotherapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . 61
Hearing Rehabilitation . . . . . . . . . . . . . . . . . . . . 62
New Therapies . . . . . . . . . . . . . . . . . . . . . . . . . . . 62
Genetic Counseling and Prenatal
Counseling . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 63
Mode of Inheritance . . . . . . . . . . . . . . . . . . . . . . 63
Risk to Family Members . . . . . . . . . . . . . . . . . . . 63
Predictive Testing . . . . . . . . . . . . . . . . . . . . . . . . . 65
Complications That Require Referral
to National NF Centers . . . . . . . . . . . . . . . . . . . . 65
Conclusions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 66
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 66
3 The Neurofibromatoses: Differential
Diagnosis and Rare Subtypes . . . . . . . . . . . . . . . . . . . 71
Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 71
Case History: The Importance of Clinical
Diagnosis Prior to Genetic Testing . . . . 74
Clinical Assessment . . . . . . . . . . . . . . . . . . . . . . . . . . . 75
Past Medical History . . . . . . . . . . . . . . . . . . . . . . 75
Family History . . . . . . . . . . . . . . . . . . . . . . . . . . . 77
Examination . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 77
Radiology/Histology Review . . . . . . . . . . . . . . . 77
NF Pigmentary Changes: Key Clinical
Features . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 78
Café au lait Spots . . . . . . . . . . . . . . . . . . . . . . . . 78
Skin Fold Freckling . . . . . . . . . . . . . . . . . . . . . . . 80
Peripheral Nerve Tumors in NF:
Clinical Clues to Diagnosis . . . . . . . . . . . . . . . . . 81
xii Contents
Neurofibromas Versus Schwannomas . . . . . . . . 81
NF2 Plaques . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 82
Eye Features of NF . . . . . . . . . . . . . . . . . . . . . . . . . . . . 83
NF1 Differential Diagnosis: The NF1/NF2
Overlap . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 83
Case History: Delay in Diagnosis
in a Child with NF2 . . . . . . . . . . . . . . . . . 84
NF1 Subtypes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 85
Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 85
Segmental/Localized NF1 . . . . . . . . . . . . . . . . . . 85
Generalized Mosaic NF1 . . . . . . . . . . . . . . . . . . 87
The NF1 Microdeletion Syndrome . . . . . . . . . . 87
Molecular Basis of Deletions . . . . . . . . . . . . . . . 90
The Clinical Phenotype . . . . . . . . . . . . . . . . . . . . 90
Should All NF1 Patients Be Tested
for Deletions? . . . . . . . . . . . . . . . . . . . . . . 93
Spinal NF1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 93
Watson Syndrome . . . . . . . . . . . . . . . . . . . . . . . . 95
CAL-Only Phenotypes . . . . . . . . . . . . . . . . . . . . 96
Legius Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . 96
NF1 Exon 17 3-bp Inframe Deletion
(c.2970_2972delAAT) . . . . . . . . . . . . . . . 100
Neuro-Cardio-Facial Cutaneous (NCFC)
Syndromes and Their Overlap
with NF1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 101
Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 101
Noonan Syndrome . . . . . . . . . . . . . . . . . . . . . . . . 105
Is There a Neurofibromatosis Noonan
Syndrome? . . . . . . . . . . . . . . . . . . . . . . . . 105
LEOPARD Syndrome . . . . . . . . . . . . . . . . . . . . 105
Costello and Cardio-Facio-Cutaneous
(CFC) Syndromes . . . . . . . . . . . . . . . . . . 106
Other Pathway Disorders . . . . . . . . . . . . . . . . . . 107
Constitutional Mismatch Repair Deficiency
(CMMR-D): A Rare But Important Cause
of a Phenotype Overlapping with NF1 . . . . . . . 108
Contents xiii
When to Think About CMMR-D in a Child
Presenting with Multiple CAL Spots
or Segmental NF1 . . . . . . . . . . . . . . . . . . 109
CAL in Other Mismatch
Repair Disorders . . . . . . . . . . . . . . . . . . . 109
NF1: Differential Diagnosis – Other
Conditions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 110
Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 110
Conditions with CAL Spots and Other
Patchy Skin Pigmentation
Changes . . . . . . . . . . . . . . . . . . . . . . . . . . . 111
Conditions with Skin Lesions
Misdiagnosed as CAL Spots . . . . . . . . . . 113
Conditions with Tumors . . . . . . . . . . . . . . . . . . . 114
NF1 Diagnostic Criteria: Pitfalls . . . . . . . . . . . . . . . . . 115
NF1 Genetic Testing Indications . . . . . . . . . . . . . . . . . 118
NF2: Differential Diagnosis and Related
Conditions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 119
Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 119
Schwannomatosis . . . . . . . . . . . . . . . . . . . . . . . . 119
Multiple Meningiomas . . . . . . . . . . . . . . . . . . . . 121
Misdiagnosis of Other Cerebello-Pontine
(CP) Angle Tumors as Vestibular
Schwannomas . . . . . . . . . . . . . . . . . . . . . . 121
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 122
4 Psychological Impact of the Neurofibromatoses . . . 129
Neurofibromatosis 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . 129
Unpredictability of Disease Complications . . . 129
Need for Expert Clinicians . . . . . . . . . . . . . . . . . 130
Disfigurement . . . . . . . . . . . . . . . . . . . . . . . . . . . 131
Facial Plexiform Neurofibromas . . . . . . . . . . . . 131
Cutaneous and Subcutaneous
Neurofibromas . . . . . . . . . . . . . . . . . . . . . 131
Education . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 133
xiv Contents
Neurofibromatosis 2 . . . . . . . . . . . . . . . . . . . . . . . . . . . 134
Measures of Quality of Life in NF2 . . . . . . . . . 134
Hearing Rehabilitation . . . . . . . . . . . . . . . . . . . . 135
Specialist Neurofibromatosis Nurses
and Specialist Advisers . . . . . . . . . . . . . . 136
The Neuro Foundation . . . . . . . . . . . . . . . . . . . . 137
The Patient as Educator . . . . . . . . . . . . . . . . . . . 137
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 140
5 Clinical Quiz: Diagnostic and Management
Pitfalls of Neurocutaneous Disease . . . . . . . . . . . . . . 141
Quiz Questions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 141
Quiz Answers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 145
Appendix . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 149
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .     159
 

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