Rothmund-Thomson sendromu
Kalıtsal - AR
2 fenotip
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Akut evre
3-6. aylarda başlar
Yüz ve yanaklarda eritem
Eritem zamanla ekstremitelerde oluşur
Gövde ve karın derisi etkilenmez
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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
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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
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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
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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
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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
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Larizza L, Magnani I, Roversi G. Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Cancer Letters, 232(1):107-120, 2006
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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
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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
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Siitonen HA, Sotkasiira J, Biervliet M, et al. The mutation spectrum in RECQL4 diseases. European Journal of Human Genetics, 17:151–158, 2009
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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
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Larizza L, Roversi G, Volpi, L. Rothmund-Thomson syndrome. Orphanet Journal of Rare Disease, 5: 2, 2010
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Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011