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Neurofibromatosis 1 - Complications
Research News and Information
Definition of 'Neurofibromatosis 1'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). |
Saturday, November 21, 2009
Characteristics of children enrolled in treatment trials for NF1-related plexiform neurofibromas.
18 Oct 2009 
OBJECTIVE: To describe the characteristics of children enrolled in treatment trials for neurofibromatosis type 1 (NF1)-related plexiform neurofibroma (PN), PN tumor burden, PN-related complications, and treatment outcomes and to highlight the ... Read more...
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...
[Spontaneous hemothorax in a neurofibromatosis type I patient - a case report]
30 Aug 2009 Spontaneous hemothorax is a rare and potentially lethal neurofibromatosis' complication. Several pathological mechanisms may explain the associated vasculopathy: a) direct vascular invasion from adjacent tumors such as Shwannoma, neurofibroma or ... Read more...
Latest indexed articles for 'Neurofibromatosis 1 - Complications'
These are the very latest articles for this heading:
- Characteristics of children enrolled in treatment trials for NF1-related plexiform neurofibromas. 18 Oct 2009
- Primary pulmonary rhabdomyosarcoma in an adult with neurofibromatosis-1. 29 Sep 2009
- Risks of radiation therapy in patients with neurofibromatosis.
29 Sep 2009 - [Spontaneous hemothorax in a neurofibromatosis type I patient - a case report] 30 Aug 2009
- A case of neurofibromatosis type I presenting with rapid enophthalmos caused by thoracoentesis. 30 Aug 2009
- Glaucoma and globe enlargement associated with neurofibromatosis type 1. 30 Aug 2009
- Large intrathoracic meningocele associated with neurofibromatosis type 1. 30 Aug 2009
- Translaminar screw fixation of a kyphosis of the cervical and thoracic spine in neurofibromatosis. 30 Aug 2009
- Cutaneous malignant peripheral nerve sheath tumors. 30 Jul 2009
- Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1. 30 Jul 2009
- Bilateral invasive ductal carcinoma in a woman with neurofibromatosis type 1.
29 Jun 2009 - Current status of sporadic and neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. 29 Jun 2009
- Unilateral developments of osteoarthritis and Charcot's joint in a patient with neurofibromatosis. 29 Jun 2009
- An intracranial leiomyosarcoma in a child with neurofibromatosis type 1. 29 Jun 2009
- Multiple gastrointestinal stromal tumours presenting as a haemoperitoneum in a patient with Type 1 neurofibromatosis: MDCT findings. 29 Jun 2009
- Combined transarterial and percutaneous coiling of a spontaneous vertebrovertebral fistula associated with neurofibromatosis Type 1. Case report. 29 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
- Spontaneous left anterior descending coronary artery dissection in a patient with neurofibromatosis. 30 May 2009
- An unusual association of recurrent pyogenic granuloma on nevus flammeus in a patient with Von Recklinghausen's disease. 30 May 2009
- [A case of retroperitoneal neurofibroma successfully resected laparoscopically] 30 May 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