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Rothmund–Thomson syndrome and osteosarcoma
Author(s) -
JUDGE M.R.,
KILBY A.,
HARPER J.I.
Publication year - 1993
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1993.tb03340.x
Subject(s) - osteosarcoma , medicine , chemotherapy , girl , surgery , dermatology , pathology , biology , genetics
Summary 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.