Osteogenic sarcoma associated with the Rothmund-Thomson syndrome

K. J. Macura, G. Burke, Vincent Jb Robinson

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3 Scopus citations


The Rothmund-Thomson syndrome (RTS), also called poikiloderma congenitale, is a rare autosomal recessive disorder characterized by photosensitivity, poikiloderma of the face and extremities, juvenile cataracts, skeletal abnormalities, and a higher incidence of malignancy. Presented is the case of a 6-year-old boy with RTS who developed an osteogenic sarcoma of the tibia. A bone scan showed bilateral radius agenesis and a hot bone lesion in the proximal tibia metaphysis. An incisional bone biopsy led to a diagnosis of osteogenic sarcoma. There is an association between RTS and osteosarcoma, and there should be a high index of suspicion when patients with RTS develop bony pain.

Original languageEnglish (US)
Number of pages1
JournalClinical Nuclear Medicine
Issue number2
StatePublished - Mar 19 1998


  • Osteogenic Sarcoma
  • Radius Agenesis
  • Rothmund-Thomson Syndrome
  • Three- Phase Bone Scan

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology


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