Neurofibromatosis type 1
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Neurofibromatosis type 1 is a condition characterised by changes in skin coloring (pigmentation) and the growth of tumours along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.
Descrição
Neurofibromatosis type 1 is a condition characterised by changes in skin coloring (pigmentation) and the growth of tumours along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.
Beginning in early childhood, almost all people with neurofibromatosis type 1 have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. These spots increase in size and number as the individual grows older. Freckles in the underarms and groin typically develop later in childhood.
Most adults with neurofibromatosis type 1 develop neurofibromas, which are noncancerous (benign) tumours that are usually located on or just under the skin. These tumours may also occur in nerves near the spinal cord or along nerves elsewhere in the body. Some people with neurofibromatosis type 1 develop cancerous tumours that grow along nerves. These tumours, which usually develop in adolescence or adulthood, are called malignant peripheral nerve sheath tumours. People with neurofibromatosis type 1 also have an increased risk of developing other cancers, including brain tumours and cancer of blood-forming tissue (leukemia).
During childhood, benign growths called Lisch nodules often appear in the colored part of the eye (the iris). Lisch nodules do not interfere with vision. Some affected individuals also develop tumours that grow along the nerve leading from the eye to the brain (the optic nerve). These tumours, which are called optic gliomas, may lead to reduced vision or total vision loss. In some cases, optic gliomas have no effect on vision.
Additional signs and symptoms of neurofibromatosis type 1 vary, but they can include high blood pressure (hypertension), short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine (scoliosis). Although most people with neurofibromatosis type 1 have normal intelligence, learning disabilities and attention-deficit/hyperactivity disorder (ADHD) occur frequently in affected individuals.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Neurofibromatosis 1
NF1
Peripheral neurofibromatosis
Recklinghausen disease, nerve
Von Recklinghausen disease
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Leitura adicional e referências
- Neurofibromatosis type 1; MedlinePlus, National Library of Medicine.
- Arun D, Gutmann DH. Recent advances in neurofibromatosis type 1. Curr Opin Neurol. 2004 Apr;17(2):101-5. doi: 10.1097/00019052-200404000-00004.
- Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, ffrench-Constant C. Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A. 2003 May 15;119A(1):1-8. doi: 10.1002/ajmg.a.20023.
- De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 Oct 26.
- Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [updated 2025 Apr 3]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1109/
- Hart L. Primary care for patients with neurofibromatosis 1. Nurse Pract. 2005 Jun;30(6):38-43. doi: 10.1097/00006205-200506000-00007. No abstract available.
- Huffmeier U, Zenker M, Hoyer J, Fahsold R, Rauch A. A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. Am J Med Genet A. 2006 Dec 15;140(24):2749-56. doi: 10.1002/ajmg.a.31547.
- Kandt RS. Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases. Neurol Clin. 2003 Nov;21(4):983-1004. doi: 10.1016/s0733-8619(03)00004-5.
- Levine TM, Materek A, Abel J, O'Donnell M, Cutting LE. Cognitive profile of neurofibromatosis type 1. Semin Pediatr Neurol. 2006 Mar;13(1):8-20. doi: 10.1016/j.spen.2006.01.006.
- Reynolds RM, Browning GG, Nawroz I, Campbell IW. Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1. Lancet. 2003 May 3;361(9368):1552-4. doi: 10.1016/s0140-6736(03)13166-2. No abstract available.
- Rose VM. Neurocutaneous syndromes. Mo Med. 2004 Mar-Apr;101(2):112-6.
- Theos A, Korf BR; American College of Physicians; American Physiological Society. Pathophysiology of neurofibromatosis type 1. Ann Intern Med. 2006 Jun 6;144(11):842-9. doi: 10.7326/0003-4819-144-11-200606060-00010. No abstract available.
- Tonsgard JH. Clinical manifestations and management of neurofibromatosis type 1. Semin Pediatr Neurol. 2006 Mar;13(1):2-7. doi: 10.1016/j.spen.2006.01.005.
- Ward BA, Gutmann DH. Neurofibromatosis 1: from lab bench to clinic. Pediatr Neurol. 2005 Apr;32(4):221-8. doi: 10.1016/j.pediatrneurol.2004.11.002.
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