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Bourneville sendromu (tuberous sclerosis kompleksi)

Kalıtsal - AD

Nöroektodermal malformasyonlar ön planda

2-6   aylıkken ortaya çıkar

20 yaşından önce ölümle biter

Deri tümörleri (tırnakaltı fibromaları)

Café-au-lait ve Shagreen plakları (sırtta oluşan fibröz plaklar)

Alın derisinde fibröz plaklar (fibröz sefalik plak)

Yüz derisinde yaygın kırmızımsı oluşumlar (yağ bezi hiperplazisi)

Damar tümörleri (yüz derisinde angiofibroma, akciğerlerde lenfangioleiomyomatozis)

Gingival hiperplazi (ön bölgelerde)

Damakta fibromlar

Dilde fibromlar

Mine defektleri

Çenelerde santral fibröz oluşumlar

Kalpte rabdomyomlar

Kalp ileti sistemi aksamaları (Wolf-Parkinson-White sendromu)

Subependimal ve kortikal glial nodüller (displazik alanlar)

Subependimal dev hücreli astrositoma

Subungual ve periungual fibromlar, tırnak distrofileri

Böbrek patolojileri (angiomyolipoma, kistler, renal cell ca)

Kalpte rabdomyoma

Hamartomalar (Akciğer, karaciğer, pankreas, retina)

Büyük damar anomalileri

Kemik anomalileri

Genital organlarda gelişme geriliği

Epileptik ataklar

Psikomotor gerilik

 

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  • Sancak O, Nellist M, Goedbloed M, et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. European Journal of Human Genetics, 13:731–741, 2005

  • Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. New England Journal of Medicine, 28;355(13):1345-1356, 2006

  • Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genetics in Medicine, 9:88–100, 2007

  • Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet, 372(9639):657-668, 2008

  • Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics, 41(5):199-208, 2010

  • Crino PB, Mehta R, Vintners HV. Pathogenesis of TSC in the Brain, In: Kwiatkowski DJ, Whittemore VH, Thiele EA, eds. Tuberous Sclerosis Complex: Genes, Clinical Features, and Therapeutics. pp.161-185, Wiley-Blackwell, Weinheim, 2010

  • Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics, 41:199–208, 2010

  • Borkowska J, Schwartz RA, Kotulska K, Jozwiak S. Tuberous sclerosis complex: tumors and tumorigenesis. International Journal of Dermatology, 50:13–20, 2011

  • Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

  • Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus Group.Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology, 49:243–254, 2013