Am J Surg Pathol ; 29 : — Gastrointestinal stromal tumors of neurofibromatosis type I von Recklinghausen's disease. Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases.
Am J Surg Pathol ; 30 : 90— Multiple gastrointestinal stromal tumors and bilateral pheochromocytoma in neurofibromatosis. World J Gastroenterol ; 13 : — Gastroenterol Clin Biol ; 30 : — [ in French]. Ophthalmic manifestations of neurofibromatosis. Br J Ophthalmol ; 71 : — Genet Med ; 4 : — Blood pressure and cardiovascular involvement in children with neurofibromatosis type1.
Pediatr Nephrol ; 19 : — Arterial distensibility and ambulatory blood pressure monitoring in young patients with neurofibromatosis type 1. Am J Hypertens ; 14 6 : — Renovascular disease and hypertension in children with neurofibromatosis. Pediatr Nephrol ; 14 : — Han M, Criado E. Renal artery stenosis and aneurysms associated with neurofibromatosis. J Vasc Surg ; 41 : — Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke.
J Neurol Sci ; : 53— Ruptured aneurysm of the subclavian artery in a patient with von Recklinghausen's disease. Circ J ; 69 : — Sudden cardiac death in young children with neurofibromatosis type 1.
J Pediatr ; : — Cerebrovascular dysplasia in neurofibromatosis type 1. J Neurol Neurosurg Psychiatry ; 79 : — Moyamoya following cranial irradiation for primary brain tumors in children. Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology ; 64 : — Frequency of incidental intracranial aneurysms in neurofibromatosis type 1. Am J Med Genet A ; : 45— Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1.
Am J Med Genet ; 95 : — Is osseous dysplasia a primary feature of neurofibromatosis 1 NF1?. Clin Genet ; 67 : — Pathophysiology of spinal deformities in neurofibromatosis. An analysis of seventy-one patients who had curves associated with dystrophic changes. J Bone Joint Surg Am ; 76 : — Neurofibromatosis type 1: spinal manifestations of a systemic disease. J Comput Assist Tomogr ; 29 : — Descriptive analysis of tibial pseudoarthrosis in patients with neurofibromatosis 1.
Am J Med Genet ; 84 : — Orthopaedic manifestations of neurofibromatosis in children: an update. Clin Orthop Relat Res ; : — Neurofibromatosis type 1 growth charts.
Am J Med Genet ; 87 : — Growth charts for young children with neurofibromatosis 1 NF1. Am J Med Genet ; 92 : — Growth in North American white children with neurofibromatosis 1 NF1. J Med Genet ; 37 : — Growth and pubertal disorders in neurofibromatosis type 1. J Pediatr Endocrinol Metab ; 16 suppl 2 : — PubMed Google Scholar. Decreased bone mineral density and content in neurofibromatosis type 1: lowest local values are located in the load-carrying parts of the body.
Osteoporos Int ; 16 : — Decreased bone mineral density in patients with neurofibromatosis 1. Decreased bone mineral density in neurofibromatosis type 1: results from a pediatric cohort.
J Pediatr Orthop ; 27 : — Bone mineral density in children with neurofibromatosis 1. Acta Paediatr ; 96 : — Generalized metabolic bone disease in neurofibromatosis type I. Mol Genet Metab ; 94 : — Bone metabolism markers and bone mineral density in children with neurofibromatosis type Brain Dev ; 30 : — Bone health and fracture rate in individuals with NF1.
J Med Genet ; 46 : — Schindeler A, Little DG. Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis NF1. Bone ; 42 : — Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1. J Med Genet ; 43 : — Evidence of increased bone resorption in neurofibromatosis type 1 using urinary pyridinium crosslink analysis. Pediatr Res ; 63 : — Brain morphometry, T2-weighted hyperintensities, and IQ in children with neurofibromatosis type 1.
Arch Neurol ; 62 : — Magnetization transfer ratio and volumetric analysis of the brain in macrocephalic patients with neurofibromatosis type 1.
Eur Radiol ; 17 : — The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder. Dev Med Child Neurol ; 48 : — Impact of neurofibromatosis type 1 on school performance. J Child Neurol ; 23 : — Academic impairment is the most frequent complication of neurofibromatosis type-1 NF1 in children. Behav Genet ; 36 : — Cognitive profile of neurofibromatosis type 1.
Semin Pediatr Neurol ; 13 : 8— An examination of lexical and sublexical reading skills in children with neurofibromatosis type 1. Child Neuropsychol ; 14 : — Personality profiles of children and adolescents with neurofibromatosis type 1. Am J Med Genet A ; : 1—7. Barton B, North K. Social skills of children with neurofibromatosis type 1. Dev Med Child Neurol ; 46 : — The self-concept of children and adolescents with neurofibromatosis type 1. Child Care Health Dev ; 33 : — Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1.
Psychological disturbance and sleep disorders in children with neurofibromatosis type 1. Dev Med Child Neurol ; 47 : — Social, emotional, and behavioral functioning of children with NF1. Impact of neurofibromatosis 1 on quality of life: a cross-sectional study of American cases.
Health-related quality of life in children with neurofibromatosis type 1: contribution of demographic factors, disease-related factors, and behavior.
J Pediatr. In press. Neuropsychological function in adults with von Recklinghausen's neurofibromatosis. Dev Neuropsychol ; 29 : — Cognitive impairment in adults with neurofibromatosis type 1. Fortschr Neurol Psychiatr ; 71 : — Curless RG. Neurology ; 55 : — T2-weighted hyperintensities unidentified bright objects in children with neurofibromatosis 1: their impact on cognitive function.
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Neurofibromatosis type 1 and pregnancy. Am J Med Genet ; 66 : 7— The role of steroid hormones in the NF1 phenotype: focus on pregnancy. Gross deletions of the neurofibromatosis type 1 NF1 gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.
Hum Genet ; : — NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.
Am J Hum Genet ; 66 : — Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q J Med Genet ; 41 : 35— Childhood overgrowth in patients with common NF1 microdeletions. Eur J Hum Genet ; 13 : — Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature.
J Med Genet ; 43 : e8. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene c. Am J Hum Genet ; 80 : — Watson syndrome: is it a subtype of type 1 neurofibromatosis?.
J Med Genet ; 28 : — Tandem duplication within a neurofibromatosis type 1 NF1 gene exon in a family with features of Watson syndrome and Noonan syndrome.
Am J Hum Genet ; 53 : 90— Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene.
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Neurogenetics ; 10 : — An analysis of variation in expression of neurofibromatosis NF type 1 NF1 : evidence for modifying genes. Am J Hum Genet ; 53 : — Members of the NF France Network Unraveling the genetic basis of variable clinical expression in neurofibromatosis 1.
Hum Mol Genet ; 18 : — Associations of clinical features in neurofibromatosis 1 NF1. Genet Epidemiol ; 19 : — Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 NF1. Genet Epidemiol ; 23 : — Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis. Genes Chromosomes Cancer ; 4 : — Loss of neurofibromatosis 1 NF1 gene expression in NF1-associated pilocytic astrocytomas.
Neuropathol Appl Neurobiol ; 26 : — Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1. Preliminary observations on genetic alterations in pilocytic astrocytomas associated with neurofibromatosis 1. Neuro Oncol ; 5 : — Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients. Neurobiol Dis ; 16 : 85— Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 NF1 gene in neurofibromatosis patients with benign and malignant tumors.
Hum Mutat ; 23 : — Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients. Genes Chromosomes Cancer ; 45 : — Comprehensive NF1 screening on cultured Schwann cells from neurofibromas. Hum Mutat ; 27 : — Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR. Mol Cancer ; 5 : Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies.
Blood ; : — Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet ; 81 : — Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1. J Med Genet ; 44 : e Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours internal and external and malignant tumour types.
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J Pathol ; : — J Invest Dermatol ; : — Germline and somatic NF1 gene mutations in plexiform neurofibromas. Hum Mutat ; 29 : E—E Double inactivation of NF1 in tibial pseudarthrosis. Am J Hum Genet ; 79 : — Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.
Segmental neurofibromatosis in childhood. Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Diagnostic criteria have been published to help health care professionals make a diagnosis of NF1 [6].
Genetic testing for genetic changes DNA variants in the NF1 gene is available, and can help make the diagnosis or can help exclude other conditions that might look like NF1.
The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment Treatment. The treatment of neurofibromatosis type 1 NF1 is based on the signs and symptoms present in each person.
Treatment may include surgery to remove neurofibromas that are disfiguring, irritating or cancerous. There is currently no way to prevent or stop the growth of the tumors associated with NF1.
Guidelines have been published for taking care of children and adults with NF1. Selumetinib Brand name: Koselugo - Manufactured by AstraZeneca Pharmaceuticals FDA-approved indication: April , selumetinib Koselugo was approved for the treatment of pediatric patients 2 years of age and older with neurofibromatosis type 1 NF1 who have symptomatic, inoperable plexiform neurofibromas PN.
Statistics Statistics. Neurofibromatosis type 1 is thought to occur in about 1 in births and has a prevalence of 1 in to 1 in Do you have updated information on this disease? Find a Specialist Find a Specialist. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself.
You can also learn more about genetic consultations from MedlinePlus Genetics. The Neurofibromatosis Network provides a tool for locating a neurofibromatosis specialist in your area.
Click on Neurofibromatosis Network to access the tool. Related Diseases Related Diseases. Conditions with similar signs and symptoms from Orphanet. There are however a small number of individuals with NF1 who like Legius syndrome patients do not develop non-pigmentary manifestations.
Constitutional mismatch repair deficiency syndrome should be considered. Other differential diagnoses include McCune-Albright syndrome, Noonan syndrome with lentigines and Proteus syndrome. Most cases of multiple non-ossifying fibromatosis are cases of NF1 see these terms. Visit the Orphanet disease page for more information. Research Research.
Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials.
We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more.
To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query". Patient Registry A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Neurofibromatosis type 1. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry.
Some registries collect contact information while others collect more detailed medical information. Learn more about registries. Registries for Neurofibromatosis type 1: NF Registry. Organizations Organizations. Organizations Supporting this Disease. Neurofibromatosis Network S. Wheaton Ave. Do you know of an organization? Living With Living With. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.
Learn More Learn More. DermNet NZ provides information about this condition. MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
This website is maintained by the National Library of Medicine. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease. Click on the link to view information on this topic. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them. In-Depth Information GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health.
Visit the website to explore the biology of this condition. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss Neurofibromatosis type 1. Click on the link to view a sample search on this topic.
Have a question? References References. Friedman JM. Neurofibromatosis 1. Neurofibromatosis type 1 NF1 : Management and prognosis. The Diagnosis and Management of Neurofibromatosis Type 1. Med Clin North Am. Nov ; 6 Genes Basel. Jul 31, ; 10 8 Neurofibromatosis type 1 NF1 : Pathogenesis, clinical features, and diagnosis. Bethesda, Md. May ; 5 :e Genet Med. Jul ; 20 7 Do you know of a review article?
Share this content:. Close Copy Link. You May Be Interested In. How to Find a Disease Specialist. Tips for the Undiagnosed. Support for Patients and Families. Tips for Finding Financial Aid. Physicians should also be on the lookout for any new or enlarging mass or any new symptoms in general. Adults with NF1, who are otherwise healthy, usually have annual checkups. Patients with NF2 should have similar routine examinations and care.
Known growths are often imaged with periodic surveillance scans with treatment reserved for enlarging or symptomatic growths. There is no known treatment or cure for neurofibromatosis or schwannomatosis. Medication can be prescribed to help with pain. In some cases, growths may be removed surgically or reduced with radiation therapy.
Although surgery in these areas can cause further injury to nerves and additional neurological problems, it is usually well tolerated. The benefits of surgery should always be weighed against its risks. Likewise, in situations where radiation treatment is an option, the risks and benefits must be carefully considered.
The AANS does not endorse any treatments, procedures, products or physicians referenced in these patient fact sheets. This information is provided as an educational service and is not intended to serve as medical advice.
Joint Providership. Incidence and Prevalence. Other Names. Neurofibromatosis Type I NF1. Diagnostic Criteria.
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