Summary
Rothmund Thomson syndrome (RTS) is a rare autosomal recessive disorder characterised by poikiloderma, dermal atrophy, dystrophic nails, short stature and hypogonadism. An increased incidence of malignancy has been reported in patients with this syndrome secondary, it is postulated, to DNA repair defects. We report the occurrence of an osteogenic sarcoma in an 11-year-old Irish girl with RTS. Although fibroblast cultures demonstrated enhanced radiosensitivity, there was no undue toxicity associated with treatment, which included methotrexate, cisplatinum and Adriamycin. Following conservative surgery, she is currently off treatment and disease-free 2 years from diagnosis.
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Varughese, M., Leavey, P., Smith, P. et al. Osteogenic sarcoma and Rothmund Thomson syndrome. J Cancer Res Clin Oncol 118, 389–390 (1992). https://doi.org/10.1007/BF01294445
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DOI: https://doi.org/10.1007/BF01294445