Table 5.

Recommended Surveillance for Individuals with Rothmund-Thomson Syndrome (RTS)

System/ConcernEvaluationFrequency
General Eval by physician familiar w/RTS for overall health maintenance & monitoring of growthAnnual
Skin Eval by dermatologist w/close monitoring of skin for lesions w/unusual color or texture, as individuals w/RTS are at ↑ risk for skin cancersAnnually or more frequently if indicated
Eyes (for those
w/o cataracts) 		Eye exams for screening purposesAnnually
Skeletal 1 Skeletal radiographic examPromptly if clinical suspicion of osteosarcoma is present (incl bone pain, swelling, or enlarging lesion on a limb) due to the high risk for this potentially lethal malignancy
1.

Surveillance screening for osteosarcoma is not routinely recommended for individuals with RTS [Walsh et al 2017].

From: Rothmund-Thomson Syndrome

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