Osteosarcomatosis with Rothmund-Thomson syndrome.
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.
el-Khoury
J M
JM
Radiology Department, Hôtel-Dieu de France, Achrafieh, Beirut, Lebanon.
Haddad
S N
SN
Atallah
N G
NG
D001859:Bone Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging; D002648:Child; D005260:Female; D006801:Humans; D007717:Knee / Q000000981:diagnostic imaging; D012516:Osteosarcoma / Q000150:complications* / Q000000981:diagnostic imaging / Q000209:etiology; D011859:Radiography; D011038:Rothmund-Thomson Syndrome / Q000150:complications*; D013577:Syndrome; D013977:Tibia / Q000000981:diagnostic imaging