Neurofibromatosis 1 - Diagnosis
Research News and Information

Saturday, November 21, 2009

Primary pulmonary rhabdomyosarcoma in an adult with neurofibromatosis-1.

29 Sep 2009 Rhabdomyosarcomas arising in various tissues associated with neurofibromatosis type 1 have been sporadically described in children and young adults. We report a unique case of primary pulmonary rhabdomyosarcoma in an adult with neurofibromatosis ... Read more...

Manifestation of neurofibromatosis 1 in a patient with X-linked adrenoleukodystrophy.

30 Aug 2009 A patient with X-linked adrenoleukodystrophy exhibited a phenotype of neurofibromatosis 1. He had large and multiple café-au-lait spots, and had elevated serum levels of very long chain fatty acids. The patient's mother and elder sister also had ... Read more...

Glaucoma and globe enlargement associated with neurofibromatosis type 1.

30 Aug 2009 OBJECTIVE: To describe the features of glaucoma and globe enlargement sometimes associated with neurofibromatosis type 1 (NF1). DESIGN: Single institution, retrospective, and cross-sectional study. PARTICIPANTS: Eighty medical records of patients ... Read more...

Latest indexed articles for 'Neurofibromatosis 1 - Diagnosis'

These are the very latest articles for this heading:

• Primary pulmonary rhabdomyosarcoma in an adult with neurofibromatosis-1. 29 Sep 2009
• Manifestation of neurofibromatosis 1 in a patient with X-linked adrenoleukodystrophy. 30 Aug 2009
• Glaucoma and globe enlargement associated with neurofibromatosis type 1. 30 Aug 2009
• Health-related quality of life measures in genetic disorders: an outcome variable for consideration in clinical trials. 13 Aug 2009
• Diagnostic and management considerations posed by multiple café au lait spots. 30 Jul 2009
• Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1. 30 Jul 2009
• Neurofibromatosis type 1. 29 Jun 2009
• Segmental neurofibromatosis type 1 (NF1) associated with Cobb syndrome: case report. 28 Jun 2009
• A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: first case report from Thailand. 30 May 2009
• Analysis of radiographic characteristics of anterolateral bowing of the leg before fracture in neurofibromatosis type 1. 30 May 2009
• Optic-pathway glioma: natural history demonstrated by a new empirical score. 30 May 2009
• SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. 11 May 2009
• Neurofibromatosis type 1 causing conductive hearing loss. 29 Apr 2009
• Neurofibromatosis type 1 associated with Charcot-Marie-Tooth type 1A. 29 Apr 2009
• Neurofibromatosis type 1 and associated malignancies. 29 Apr 2009
• Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. 29 Apr 2009
• Non-ossifying fibroma, fibrous cortical defect and Jaffe-Campanacci syndrome: a biologic and clinical review. 27 Apr 2009
• Pseudarthrosis of the tibia: emergency department presentation of neurofibromatosis type 1 in a 4-month-old infant. 30 Mar 2009
• Schwannomatosis. 29 Mar 2009
• Hemifacial spasm and pontine compression caused by a giant vertebrobasilar dolichoectasia. 16 Mar 2009

See a longer list of these articles.

Technical information about 'Neurofibromatosis 1'

Definition: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Descriptor UI: D009456

Alternative terms: Neurofibromatosis 1; NF1 (Neurofibromatosis 1); Recklinghausens Disease of Nerve; Recklinghausen's Disease of Nerve; Recklinghausen Disease, Nerve; von Recklinghausen Disease; von Recklinghausen's Disease; von Recklinghausens Disease; Neurofibromatosis, Peripheral, NF 1; Peripheral Neurofibromatosis; Neurofibromatoses, Peripheral; Neurofibromatosis, Peripheral; Peripheral Neurofibromatoses; Neurofibromatosis I; Neurofibromatosis Type I; I, Neurofibromatosis Type; Type I, Neurofibromatosis; Neurofibromatosis Type 1; Type 1, Neurofibromatosis; Neurofibromatosis, Type 1; Type 1 Neurofibromatosis; Neurofibromatosis, Type I; Neurofibromatoses, Type I; Type I Neurofibromatoses; Neurofibromatosis, Peripheral, NF1; Recklinghausen Disease of Nerve; Watson Syndrome; Syndrome, Watson;

Related Mesh Headings: Noonan Syndrome; Genes, Neurofibromatosis 1; Neurofibromin 1; LEOPARD Syndrome;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; urine; veterinary; ultrasonography; virology;

Tree Number: C04.557.580.600.580.590.650; C04.700.645.650; C10.562.600.500; C10.574.500.549.400; C10.668.829.675; C16.320.400.560.400; C16.320.700.645.650;

History Note: 1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991

Technical Notes: do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant