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.
- Osteogenic Sarcoma
- Radius Agenesis
- Rothmund-Thomson Syndrome
- Three- Phase Bone Scan
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging
- Radiological and Ultrasound Technology