Rothmund-Thomson syndrome and osteosarcoma

M R Judge; A Kilby; J I Harper

doi:10.1111/j.1365-2133.1993.tb03340.x

Rothmund-Thomson syndrome and osteosarcoma

Br J Dermatol. 1993 Dec;129(6):723-5. doi: 10.1111/j.1365-2133.1993.tb03340.x.

Authors

M R Judge¹, A Kilby, J I Harper

Affiliation

¹ Department of Dermatology, Hospital for Sick Children, London, U.K.

PMID: 8286259
DOI: 10.1111/j.1365-2133.1993.tb03340.x

Abstract

A 10-year-old girl with Rothmund-Thomson syndrome developed a fibular osteosarcoma. Standard chemotherapy produced intolerable toxicity, necessitating a modification of therapy. Initial DNA repair studies on skin fibroblasts were abnormal, but repeat studies failed to reproduce the defects.

Publication types

Case Reports

MeSH terms

Bone Neoplasms / complications*
Bone Neoplasms / diagnostic imaging
DNA Repair
Female
Fibula* / diagnostic imaging
Humans
Infant
Osteosarcoma / complications*
Osteosarcoma / diagnostic imaging
Radiography
Rothmund-Thomson Syndrome / complications*
Rothmund-Thomson Syndrome / diagnostic imaging