𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Rothmund-Thomson syndrome and osteosarcoma

✍ Scribed by Cumin, Isabelle; Cohen, Jean-Yves; David, Albert; Méchinaud, Françoise; Avet-Loiseau, Hervé; Harousseau, Jean-Luc

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
302 KB
Volume
26
Category
Article
ISSN
0098-1532

No coin nor oath required. For personal study only.

✦ Synopsis

The Rothmund-Thomson syndrome (RTS), also called poikiloderma congenitale is a rare autosomal recessive disease first described in 1868. This syndrome includes most frequently seen skin lesions (atrophy, telangiectases, pigmentation), cataracts and bone defects (dysostosis, dysplasia). Some authors describe an association with malignancy. We report three cases of Rothmund-Thomson syndrome associated with osteosarcoma. After cutaneous epithelioma, osteosarcoma is the most frequent rnalignancy. Thus, patients with RTS need a careful survey. The treatment did not differ from sporadic osteosarcoma. Chemosensitivity and toxicity are also not different.

📜 SIMILAR VOLUMES

Variable presentation of Rothmund-Thomso
Variable presentation of Rothmund-Thomson syndrome
✍ Pujol, Lisa A. ;Erickson, Robert P. ;Heidenreich, Randall A. ;Cunniff, Christoph 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 154 KB

The recent finding that a subset of patients with Rothmund-Thomson syndrome (RTS) have mutations of a helicase gene has prompted reexamination of the phenotypes of individuals diagnosed with this disorder. We report on two patients with variable presentations of RTS. Initial presenting symptoms incl

Osteogenic sarcoma in the Rothmund-Thoms
Osteogenic sarcoma in the Rothmund-Thomson syndrome
✍ Leonard, Andrea; Craft, Alan W.; Moss, Celia; Malcolm, Archie J. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 377 KB

Two children who had the Rothmund-whom information was available showed un-Thomson syndrome and developed osteo-due sensitivity to cancer chemotherapy agents sarcoma are reported. The 10 previously re-with prolonged myelosuppression and severe ported cases are reviewed. The osteosarco-mucositis. It

Growth hormone deficiency in the Rothmun
Growth hormone deficiency in the Rothmund-Thomson syndrome
✍ Kaufmann, Silvia ;Jones, Marilyn ;Culler, Floyd L. ;Jones, Kenneth Lee ;Opitz, J 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 516 KB

We describe the first proven Occurrence of growth hormone deficiency in an individual with the Rothmund-Thomson syndrome. This was suspected because of the patient's severely retarded growth and bone age and her failure to respond normally to growth hormone stimulation testing with I-DOPA, arginine,

Clonal lines of aneuploid cells in Rothm
Clonal lines of aneuploid cells in Rothmund-Thomson syndrome
✍ Der Kaloustian, Vazken M. ;McGill, James J. ;Vekemans, Michel ;Kopelman, Hinda R 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 399 KB

We report on a 21-month-old white boy with the Rothmund-Thomson syndrome. The karyotype on fibroblasts from an area of skin with poikiloderma showed the 46,XY,17 + der(17),t(2;17)(qll;p13) pattern. ## Karyotype on fibroblasts from normal skin showed two different abnormal patterns: 47,XY, + 8 and