1/15. Two primary osteosarcomas in a patient with rothmund-thomson syndrome.rothmund-thomson syndrome is an autosomal recessive disorder characterized by poikilodermatous skin changes that develop in infancy. Associated manifestations include juvenile cataracts, sparse hair, short stature, skeletal defects, dystrophic nails and teeth, and hypogonadism. An increased incidence of malignancy, including osteosarcoma, has been reported in patients with rothmund-thomson syndrome. The molecular basis of the disorder is not known. This report describes a patient with rothmund-thomson syndrome in whom two primary osteosarcomas developed 12 years apart. The presentation, diagnosis, and treatment of osteosarcoma in this patient with rothmund-thomson syndrome are described. Cytogenetic and molecular analysis of peripheral blood and skin fibroblasts had low level mosaicism for trisomy of chromosomes 2 and 8. Although several patients have been described with mosaic trisomy 8 and i(2q) (mosaic isochromosome for the long arm of chromosome 2), the patient described here is the first to have mosaic trisomy for the entire chromosomes 2 and 8. The cytogenetic findings in this patient are consistent with an underlying defect in chromosomal stability.- - - - - - - - - - ranking = 1keywords = osteosarcoma, sarcoma (Clic here for more details about this article) |
2/15. Variable presentation of rothmund-thomson syndrome.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 included growth deficiency and absent thumbs in one patient and osteogenic sarcoma and poikiloderma in the second patient. The growth-deficient patient was diagnosed with growth hormone deficiency and had a subnormal response to growth hormone supplementation. Neither malformations nor growth deficiency were present in the patient with osteogenic sarcoma, and her only other manifestation of RTS was poikiloderma. The diagnosis of RTS should be considered in all patients with osteogenic sarcoma, particularly if associated with skin changes.- - - - - - - - - - ranking = 0.30719756842439keywords = osteogenic, sarcoma (Clic here for more details about this article) |
3/15. rothmund-thomson syndrome with myelodysplasia.rothmund-thomson syndrome (RTS) is a rare autosomal recessive disorder that is caused by a dna repair defect. It is characterized mainly by skin, eye, and skeletal abnormalities. Cutaneous changes appear at between 3 and 6 months of age and include poikiloderma, photosensitivity, scaling, hyperkeratosis, and disturbance of hair growth. Other abnormalities include cataracts, congenital bone defects, soft tissue contractures, and osteogenesis imperfecta. Various malignancies have been reported in association with RTS, including osteosarcoma, fibrosarcoma, and nonmelanoma skin cancers. The myelodysplastic syndromes are a group of hematologic disorders defined by morphologic abnormalities of the three cell lines. The pathogenesis of myelodysplasia is a multistep process that begins with a somatic mutation in the pluripotential stem cell, which is irreversibly altered and acquires a survival advantage. Myelodysplasia in the young and RTS are both rare conditions. We report a patient with RTS and myelodysplasia. This is the second reported case of an association between these two conditions, which are both likely to be due to a common etiologic cause of nonrepair of stem cell dna damage. Clinicians should be aware of the potential of this complication arising in patients with RTS.- - - - - - - - - - ranking = 0.14313138401625keywords = osteosarcoma, sarcoma (Clic here for more details about this article) |
4/15. rothmund-thomson syndrome, klippel-feil syndrome, and osteosarcoma.We report on a 33 year old woman with Rothmund-Thompson syndrome, klippel-feil syndrome and osteosarcoma. We briefly discuss the relationship of these diseases and suggest that the cause for mental retardation is cerebral atrophy as shown on imaging.- - - - - - - - - - ranking = 0.71428571428571keywords = osteosarcoma, sarcoma (Clic here for more details about this article) |
5/15. Osteogenic sarcoma and Rothmund Thomson syndrome.Rothmund Thomson syndrome (RTS) is a rare autosomal recessive disorder characterised by poikiloderma, dermal atrophy, dystrophic nails, short stature and hypogonadism. An increased incidence of malignancy has been reported in patients with this syndrome secondary, it is postulated, to dna repair defects. We report the occurrence of an osteogenic sarcoma in an 11-year-old Irish girl with RTS. Although fibroblast cultures demonstrated enhanced radiosensitivity, there was no undue toxicity associated with treatment, which included methotrexate, cisplatinum and Adriamycin. Following conservative surgery, she is currently off treatment and disease-free 2 years from diagnosis.- - - - - - - - - - ranking = 0.10349615411122keywords = osteogenic, sarcoma (Clic here for more details about this article) |
6/15. Non-dermatological complications and genetic aspects of the rothmund-thomson syndrome.We report two new cases of rothmund-thomson syndrome which emphasize the less well-known non-dermatological complications, namely: hypodontia, soft tissue contractures, proportionate short stature, hypogonadism, anaemia and osteogenic sarcoma. Genetic analysis of these and previously reported pedigrees supports autosomal recessive inheritance.- - - - - - - - - - ranking = 0.1023991894748keywords = osteogenic, sarcoma (Clic here for more details about this article) |
7/15. osteosarcoma in a boy with rothmund-thomson syndrome.The first case of osteosarcoma in a 13 year old boy with rothmund-thomson syndrome is reported. The association between these two conditions is uncertain.- - - - - - - - - - ranking = 0.14395410749357keywords = osteosarcoma, sarcoma (Clic here for more details about this article) |
8/15. rothmund-thomson syndrome and osteosarcoma.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.- - - - - - - - - - ranking = 0.71428571428571keywords = osteosarcoma, sarcoma (Clic here for more details about this article) |
9/15. rothmund-thomson syndrome with osteosarcoma.rothmund-thomson syndrome is a rare genodermatosis that features a progressive, early-onset poikiloderma, a high incidence of juvenile cataracts, stunted growth, and a wide range of skeletal abnormalities. We report the seventh case of osteosarcoma in a patient with rothmund-thomson syndrome and review the previous reports describing this association.- - - - - - - - - - ranking = 0.71428571428571keywords = osteosarcoma, sarcoma (Clic here for more details about this article) |
10/15. Osteogenic sarcoma in the rothmund-thomson syndrome.Two children who had the rothmund-thomson syndrome and developed osteosarcoma are reported. The 10 previously reported cases are reviewed. The osteosarcomas developed at a younger age than normally expected and 66% occurred in the tibia/fibula. Four of the five patients for whom information was available showed undue sensitivity to cancer chemotherapy agents with prolonged myelosuppression and severe mucositis. It is recommended that doxorubicin in particular should be given with extreme caution in such patients.- - - - - - - - - - ranking = 0.28681125035071keywords = osteosarcoma, sarcoma (Clic here for more details about this article) |
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