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The British Journal of Radiology, Vol 70, Issue 830 215-218, Copyright © 1997 by British Institute of Radiology

ARTICLES

Osteosarcomatosis with Rothmund-Thomson syndrome

JM el-Khoury, SN Haddad and NG Atallah
Radiology Department, Hotel-Dieu de France, Achrafieh, Beirut, Lebanon.

We describe the second reported case of multicentric osteosarcoma associated with Rothmund-Thomson syndrome (RTS), a rare hereditary cancer-prone genodermatosis characterized by typical cutaneous lesions and other non-dermatological pathological manifestations, particularly skeletal changes. A high incidence of malignant disorders has been found in RTS patients. This could be explained by the diminished capacity of DNA-repair demonstrated in the fibroblasts of RTS patients following exposure to oncogenic stimuli. The severe cutaneous lesions and the benign bone lesions found in RTS may be considered a predisposing factor to the particularly frequent skin carcinoma and osteogenic sarcoma encountered in these cancer-prone patients. A brief review of the literature is given, with a discussion of the association between these two rare conditions.


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M. J. Hicks, J. R. Roth, C. A. Kozinetz, and L. L. Wang
Clinicopathologic Features of Osteosarcoma in Patients With Rothmund-Thomson Syndrome
J. Clin. Oncol., February 1, 2007; 25(4): 370 - 375.
[Abstract] [Full Text] [PDF]


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