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Nörofibromatosis sendromları

4 önemli fenotip

Nörofibromatozis tip 1 (von Recklinghausen hastalığı)

Kalıtsal - AD/Spontan (ileri yaş gebeliklerinde)

1. Nörofibroma’lar: patognomonik bulgu (%5 nörofibrosarkoma riski)

Buna ek olarak aşağıdakilerden en az biri bulunmalı

2. Lisch nodülleri (irisin benign melanositik hamartoması)

3. Cafe´-au-lait lekeleri

4. Çiller (derinin güneş görmeyen bölgelerinde- aksilla, kasık)

5. Ailede NF1 Spontan - gen mutasyonu öyküsü

6. Kemik lezyonları (sfenoid kanat displazisi, sfenoid kemik agenezi, uzun kemiklerde ince korteks, tibia displazisi, osteopenia, osteoporosis, skolyoz, sternum anomalileri, spina bifida, gelişme geriliği)

7. Optik glioma

Ek bulgular: makrosefali, sfenoid kemik displazisi, hipertelorizm, glokom, renal arter stenozu (renal hipertansiyon), hidroasefalus, tümörler (meningioma, hipotalamus tümörleri, rabdomyosarkoma, endokrin sistem tümörleri)

Bkz Jaffe-Campanacci sendromu

 

  • D'Agostino AN, Soule EH, Miller RH. Sarcomas of the peripheral nerves and somatic soft tissue associated with multiple neurofibromatosis. Cancer, 16: 1015-1027, 1963

  • Szudek J, Birch P, Friedman JM, The National Neurofibromatosis Foundation International Database Participants. Growth in North American white children with neurofibromatosis 1 (NF1). Journal of Medical Genetics, 37: 933-938, 2000

  • Lakkis MM, and Tennekoon GI. Neurofibromatosis Type 1: I. General Overview.

  • Journal of Neuroscience Research, 62:755–763, 2000

  • Szudek, J., Evans, D. G., Friedman, J. M. Patterns of associations of clinical features in neurofibromatosis 1 (NF1). Human Genetics, 112: 289-297, 2003

  • Khosrotehrani K, Bastuji-Garin S, Riccardi VM, et al. Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: a cohort study of 703 patients. American Journal of Medical Genetics A, 132A: 49-53, 2005

  • Williams VC, Lucas J, Babcock MA, et al. Neurofibromatosis type 1 revisited. Pediatrics, 123: 124-133, 2009

  • Viskochil DH, Hock JM, Schorry EK, et al. Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options. American Journal of Medical Genetics, 149A:2327–2338, 2009

  • Garcia-Romero MT, Parkin P, Lara-Corrales I. Mosaic Neurofibromatosis Type 1: A Systematic Review. Pediatric Dermatology, 33(1):9–17, 2016

 

Nörofibromatozis tip 2 (Santral tip nörofibromatozis)

Kalıtsal - AD/Spontan

Jüvenil katartakt

Retinal hamartoma

Lisch nodülleri yok

Deride cafe´-au-lait lekeleri (çok az)

Nörofibromalar (az ve küçük)

Deride schwanomma türü oluşumlar

Periferik nöropati

Beyin tümörleri (meningioma, glioma, schwannoma, ependimoma)

 

  • Baser ME, Friedman JM, Evans DGR. Maternal gene effect in neurofibromatosis 2: fact or artifact? (Letter) Journal of Medical Genetics, 38: 783-784, 2001

  • Baser ME, Friedman JM, Aeschliman D, et al. Predictors of the risk of mortality in neurofibromatosis 2. American Journal of Human Genetics 71: 715-723, 2002

  • McLaughlin ME, Pepin SM, MacCollin M, et al. Ocular pathologic findings of neurofibromatosis type 2. Archives of Ophthalmology, 125: 389-394, 2007

  • Asthagiri AR, Parry DM, Butman JA, et al. Neurofibromatosis type 2. Lancet, 373: 1974-1986, 2009

 

Nörofibromatozis tip 3 ve 4

Kalıtsal  - AD (öteki tiplere kıyasla ender)

Tip 3 (Riccardi tipi): Lisch nodülleri yok, bilateral akustik nöroma, arka çukur meningioması, spinal ve paraspinal nörofibromalar, palmar nörofibromlar, deride az sayıda soluk cafe´-au-lait lekeleri

Tip 4: Lisch nodülleri genellikle yok, atipik nörofibromalar

 

  • Martuza RL, Ojemann RG. Bilateral acoustic neuromas: clinical aspects, pathogenesis, and treatment. Neurosurgery, 10: 1-12, 1982

  • Riccardi VM. Neurofibromatosis: clinical heterogeneity. Current Problems in Cancer, 7(2): 1-34, 1982

  • Riccardi VM, Eichner JE. Neurofibromatosis: Phenotype, Natural History and Pathogenesis. Johns Hopkins University Press, Baltimore, 1986

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