Book contents
- Frontmatter
- Contents
- List of contributors
- Preface
- Psychology, health and illness
- Medical topics
- Abortion
- Accidents and unintentional injuries
- Acne
- Alcohol abuse
- Allergies to drugs
- Allergies to food
- Allergies: general
- Amnesia
- Amputation and phantom limb pain
- Anaesthesia and psychology
- Antenatal care
- Aphasia recovery, treatment and psychosocial adjustment
- Asthma
- Back pain
- Blindness and visual disability
- Blood donation
- Breastfeeding
- Burn injuries: psychological and social aspects
- Cancer: breast
- Cancers of the digestive tract
- Cancer: general
- Cancer: gynaecologic
- Cancer: head and neck
- Cancer: Hodgkin's and non-Hodgkin's lymphoma
- Cancer: leukaemia
- Cancer: lung
- Cancer: prostate
- Cancer: skin
- Carotid artery disease and treatment
- Chemotherapy
- Child abuse and neglect
- Chromosomal abnormalities
- Chronic fatigue syndrome
- Chronic obstructive pulmonary disease (COPD): chronic bronchitis and emphysema
- Cleft lip and palate
- Cold, common
- Complementary medicine
- Contraception
- Coronary heart disease: impact
- Coronary heart disease: cardiac psychology
- Coronary heart disease: heart failure
- Coronary heart disease: rehabilitation
- Coronary heart disease: surgery
- Cystic fibrosis
- Acquired hearing loss
- Dementias
- Diabetes mellitus
- Domestic violence, intimate partner violence and wife battering
- Drug dependency: benzodiazepines
- Drug dependence: opiates and stimulants
- Drugs: beta-blockers
- Drugs: psychotropic medication
- Dyslexia
- Eating disorders
- Eczema
- Endocrine disorders
- Enuresis
- Epilepsy
- Epstein–Barr virus infection
- Facial disfigurement and dysmorphology
- Fetal wellbeing: monitoring and assessment
- Gastric and duodenal ulcers
- Growth retardation
- Haemophilia
- Head injury
- Headache and migraine
- Herpes
- HIV/AIDS
- Hormone replacement therapy
- Hospital acquired infection
- Huntington's disease
- Hyperactivity
- Hypertension
- Hyperthyroidism
- Hyperventilation
- Hysterectomy
- Immunization
- Incontinence
- Infertility
- Inflammatory bowel disease
- Intensive care unit
- Intimate examinations
- Irritable bowel syndrome
- Lymphoedema
- Malaria
- Mastalgia (breast pain)
- Meningitis
- Menopause and postmenopause
- MMR vaccine
- Motor neurone disease
- Multiple sclerosis
- Myasthenia gravis
- Neurofibromatosis
- Non-cardiac chest pain
- Obesity
- Oral care and hygiene
- Osteoarthritis
- Osteoporosis
- Parkinson's disease
- Pelvic pain
- Post-traumatic stress disorder
- Postnatal depression
- Pregnancy and childbirth
- Premature babies
- Premenstrual syndrome
- Psoriasis
- Radiotherapy
- Rape and sexual assault
- Reconstructive and cosmetic surgery
- Renal failure, dialysis and transplantation
- Repetitive strain injury
- Rheumatoid arthritis
- Road traffic accidents: human factors
- Screening: antenatal
- Screening: cancer
- Screening: cardiac
- Screening: genetic
- Self-examination: breasts, testicles
- Sexual dysfunction
- Sexually transmitted infections
- Sickle cell disease
- Skin disorders
- Sleep apnoea
- Sleep disorders
- Spina bifida
- Spinal cord injury
- Sterilization and vasectomy
- Stroke
- Stuttering
- Suicide
- Tinnitus
- Tobacco use
- Toxins: environmental
- Transplantation
- Urinary tract symptoms
- Vertigo and dizziness
- Vision disorders
- Voice disorders
- Volatile substance abuse
- Vomiting and nausea
- Index
- References
Neurofibromatosis
from Medical topics
Published online by Cambridge University Press: 18 December 2014
- Frontmatter
- Contents
- List of contributors
- Preface
- Psychology, health and illness
- Medical topics
- Abortion
- Accidents and unintentional injuries
- Acne
- Alcohol abuse
- Allergies to drugs
- Allergies to food
- Allergies: general
- Amnesia
- Amputation and phantom limb pain
- Anaesthesia and psychology
- Antenatal care
- Aphasia recovery, treatment and psychosocial adjustment
- Asthma
- Back pain
- Blindness and visual disability
- Blood donation
- Breastfeeding
- Burn injuries: psychological and social aspects
- Cancer: breast
- Cancers of the digestive tract
- Cancer: general
- Cancer: gynaecologic
- Cancer: head and neck
- Cancer: Hodgkin's and non-Hodgkin's lymphoma
- Cancer: leukaemia
- Cancer: lung
- Cancer: prostate
- Cancer: skin
- Carotid artery disease and treatment
- Chemotherapy
- Child abuse and neglect
- Chromosomal abnormalities
- Chronic fatigue syndrome
- Chronic obstructive pulmonary disease (COPD): chronic bronchitis and emphysema
- Cleft lip and palate
- Cold, common
- Complementary medicine
- Contraception
- Coronary heart disease: impact
- Coronary heart disease: cardiac psychology
- Coronary heart disease: heart failure
- Coronary heart disease: rehabilitation
- Coronary heart disease: surgery
- Cystic fibrosis
- Acquired hearing loss
- Dementias
- Diabetes mellitus
- Domestic violence, intimate partner violence and wife battering
- Drug dependency: benzodiazepines
- Drug dependence: opiates and stimulants
- Drugs: beta-blockers
- Drugs: psychotropic medication
- Dyslexia
- Eating disorders
- Eczema
- Endocrine disorders
- Enuresis
- Epilepsy
- Epstein–Barr virus infection
- Facial disfigurement and dysmorphology
- Fetal wellbeing: monitoring and assessment
- Gastric and duodenal ulcers
- Growth retardation
- Haemophilia
- Head injury
- Headache and migraine
- Herpes
- HIV/AIDS
- Hormone replacement therapy
- Hospital acquired infection
- Huntington's disease
- Hyperactivity
- Hypertension
- Hyperthyroidism
- Hyperventilation
- Hysterectomy
- Immunization
- Incontinence
- Infertility
- Inflammatory bowel disease
- Intensive care unit
- Intimate examinations
- Irritable bowel syndrome
- Lymphoedema
- Malaria
- Mastalgia (breast pain)
- Meningitis
- Menopause and postmenopause
- MMR vaccine
- Motor neurone disease
- Multiple sclerosis
- Myasthenia gravis
- Neurofibromatosis
- Non-cardiac chest pain
- Obesity
- Oral care and hygiene
- Osteoarthritis
- Osteoporosis
- Parkinson's disease
- Pelvic pain
- Post-traumatic stress disorder
- Postnatal depression
- Pregnancy and childbirth
- Premature babies
- Premenstrual syndrome
- Psoriasis
- Radiotherapy
- Rape and sexual assault
- Reconstructive and cosmetic surgery
- Renal failure, dialysis and transplantation
- Repetitive strain injury
- Rheumatoid arthritis
- Road traffic accidents: human factors
- Screening: antenatal
- Screening: cancer
- Screening: cardiac
- Screening: genetic
- Self-examination: breasts, testicles
- Sexual dysfunction
- Sexually transmitted infections
- Sickle cell disease
- Skin disorders
- Sleep apnoea
- Sleep disorders
- Spina bifida
- Spinal cord injury
- Sterilization and vasectomy
- Stroke
- Stuttering
- Suicide
- Tinnitus
- Tobacco use
- Toxins: environmental
- Transplantation
- Urinary tract symptoms
- Vertigo and dizziness
- Vision disorders
- Voice disorders
- Volatile substance abuse
- Vomiting and nausea
- Index
- References
Summary
Neurofibromatosis 1 (NF1) is a common autosomal dominant disease with an estimated birth incidence of 1 in 2500 and a prevalence of 1 in 4000 (Huson et al., 1991). The principal and defining clinical features are café au lait patches, skinfold freckling, cutaneous neurofibromas (benign peripheral nerve sheath tumours), iris Lisch nodules (hamartomas) and characteristic bony dysplasia (Huson et al., 1988; National Institutes of Health Consensus Development Conference, 1988) (Table 1). The majority of patients are diagnosed by the age of three years. NF1 arises as a spontaneous mutation in 50% of individuals and there is a wide variety of disease expression in patients with NF1, even within families. Neurofibromatosis 1 is clinically and genetically distinct from the rare condition neurofibromatosis 2, which is characterized by bilateral vestibular schwannomas (benign tumours of the eighth cranial nerve), schwannomas involving other cranial nerves, spinal nerve roots and peripheral nerves and by central nervous system meningiomas and gliomas (Evans et al., 1992).
The gene for NF1 has been identified on chromosome 17q11.2 by positional cloning (Viskochil et al., 1990; Wallace et al., 1990) and the protein product is neurofibromin, which has high levels of expression in the brain and acts as a tumour suppressor (Gutmann et al., 1991). Neurofibromin reduces cell proliferation by promoting the inactivation of the protooncogene p21RAS, which has a major role in mitogenic intracellular signalling pathways.
- Type
- Chapter
- Information
- Cambridge Handbook of Psychology, Health and Medicine , pp. 790 - 792Publisher: Cambridge University PressPrint publication year: 2007