Osteogenic sarcoma associated with the Rothmund-Thomson syndrome

Katarzyna Macura, G. Burke, V. J B Robinson

Research output: Contribution to journalArticle

Abstract

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)
Pages (from-to)116
Number of pages1
JournalClinical Nuclear Medicine
Volume23
Issue number2
DOIs
StatePublished - 1998
Externally publishedYes

Fingerprint

Rothmund-Thomson Syndrome
Osteosarcoma
Tibia
Bone and Bones
Photosensitivity Disorders
Cataract
Extremities
Biopsy
Pain
Incidence
Neoplasms

Keywords

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

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology

Cite this

Osteogenic sarcoma associated with the Rothmund-Thomson syndrome. / Macura, Katarzyna; Burke, G.; Robinson, V. J B.

In: Clinical Nuclear Medicine, Vol. 23, No. 2, 1998, p. 116.

Research output: Contribution to journalArticle

Macura, Katarzyna ; Burke, G. ; Robinson, V. J B. / Osteogenic sarcoma associated with the Rothmund-Thomson syndrome. In: Clinical Nuclear Medicine. 1998 ; Vol. 23, No. 2. pp. 116.
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