Z

 

Zinsser-Cole-Engman sendromu (Hoyeraal-Hreidarsson sendromu; dyskeratosis congenita, X-linked; DKCX)

Kalıtsal - XLR

14 fenotip (dyskeratosis congenita fenotipi)

Mikrosefali

Gelişme geriliği

Zayıf/güçsüz vücut

Deride büllöz lezyonlar

Saçlar ve kirpikler seyrek

Alopesi

Saçlar gri

Progeria

Lakrimal duktus ağzı darlığı

Konjenital konjunktiva lökoplakisi

Gözyaşının aşırı sekresyonu

Konjunktivit

Blefarit

Strabismus

Katarakt

Optik atrofi

Yüz, boyun ve göğüs derisi hiperpigmentasyonu

Ağızda büllöz lezyonlar

Skuamöz epitel mukozalarında atrofi

Konjenital lökoplakiler (damak, dil, yanak, özofagusu, konjunktiva)

Lökoplakilerden epidermoid karsinom (çıkabilir)

Periodontal infeksiyonlar

Çürükler

Taurodontism

Dilde atrofi (papillalar silik)

Dil mukozası kalın

Akciğer fibrozisi (restriktif akciğer hastalığı)

Myelodisplastik sendrom bulguları

Pansitopeni

Aplastik anemi

Akut myeloid lösemi riski yüksek

Hipogammaglobulinemi (IgG, IgM)

Pankreas ca

Hodgkin lenfoması

Hepatosplenomegali

Siroz

Özofagus divertikülleri/darlığı

Konjenital anal lökoplaki

Üriner sistem anomalileri

Hipogonadizm

Osteoporoz

Kırıklar

Deri atrofisi (retiküler)

El ve ayaklarda aşırı terleme, hiperkeratoz, siyanoz

Tırnaklarda distrofi

Psikomotor gerilik

Serebellum hipoplazisi

Zeka geriliği

İmmun yetmezlik bulguları (pansitopeni)

Ayrıca bkz Revesz sendromu

 

  • Revesz T, Fletcher S, al Gazali LI, DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? Journal of Medical Genetics, 29:673–675, 1992

  • Vulliamy TJ, Marrone A, Knight SW, et al. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood, 107:2680–2685, 2006

  • Walne AJ, Dokal I. Dyskeratosis congenita: a historical perspective. Mechanism of Ageing & Development, 129:48–59, 2008

  • Alter BP, Gİri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood, 113:6549–6557, 2009

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  • Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Review of Hematology, 6(3):327-337, 2013

  • Le Guen T, Jullien L, Touzot F, et al. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. Human Molecular Genetics, 22:3239–3249, 2013

  • Walne AJ, Vulliamy T, Kirwan M, et al. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. American Journal of Human Genetics, 92: 448-453, 2013