Rothmund-Thomson sendromu

Kalıtsal - AR

2 fenotip

  • Akut evre

3-6. aylarda başlar

Yüz ve yanaklarda eritem

Eritem zamanla ekstremitelerde oluşur

Gövde ve karın derisi etkilenmez

  • Kronik evre

Yıllarca sürebilir

Gelişme geriliği

Saç, kaş ve kirpikler seyrek

Saçlar ince/erken beyazlanma

Progeria

Mikroftalmi

Mikrokornea

Bilateral jüvenil katarakt

Glokom

Mikrodonti

Hipodonti

Kuron anomalileri

Kök anomalileri

Mine defektleri

Diş sürmelerinde aksamalar

Periodontal patolojiler

Uvula bifida

Annüler pankreas

Kronik diyare

Kusma

Dış genital organlarda hipoplazi

Hipogonadizm (inmemiş testis, amenore)

Üst ekstremiltelerde radius anomalileri (aplazi, hipoplazi)

Patella aplazisi/hipoplazisi

Osteopeni

Myeloblastik sendromlar (anemi, nötropeni, lösemi)

Çizgisel hipopigmentasyon ve hiperpigmentasyon

Telangiektaziler

Güneşe duyarlı deri

Deri atrofisi (mozaik görünümünde)

Taban ve avuçlarda hiperkeratoz

Distrofik ve küçük tırnaklar

Deri kanserleri ve osteosarkom riski

 

  • Wang LL, Levy ML, Lewis RA, et al. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. American Journal of Medical Genetics, 102:11–17, 2001

  • Haytaç MC, Öztunç H, Mete UO, Kaya M. Rothmund-Thomson syndrome: a case report. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, & Endodontology, 94:479–484, 2002

  • Balraj P, Concannon P, Jamal R, et al. An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome. Mutation Research, 508:99–105, 2002

  • Kellermayer R, Siitonen HA, Hadzsiev K, et al. A patient with Rothmund-Thomson syndrome and all features of Rapadilino. Archives of Dermatology, 141:617–620, 2005

  • Larizza L, Magnani I, Roversi G. Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Cancer Letters, 232(1):107-120, 2006

  • Hicks MJ, Roth JR, Kozinetz CA, Wang LL. Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome. Journal of Clinical Oncology, 25(4):370-375, 2007

  • Mehollin-Ray AR, Kozinetz CA, Schlesinger AE, Guillerman RP, Wang LL. Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. American Journal of Roentgenology, 191(2):W62-66, 2008

  • Siitonen HA, Sotkasiira J, Biervliet M, et al. The mutation spectrum in RECQL4 diseases. European Journal of Human Genetics, 17:151–158, 2009

  • Simon T, Kohlhase J, Wilhelm C, et al. Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: case report and literature review. American Journal of Medical Genetics A, 152A: 1575-1579, 2010

  • Larizza L, Roversi G, Volpi, L. Rothmund-Thomson syndrome. Orphanet Journal of Rare Disease, 5: 2, 2010

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

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