Case report 529

Baró, P.; Bastart, F. M.; Bartrina, J. R.; Mateo, Javier; Vidal, M.

doi:10.1007/bf00350664

Cited by 20 publications

(12 citation statements)

References 12 publications

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“…The prognosis is very poor with a mean life expectancy of 1 year. To our knowledge, 11 cases of osteosarcoma have already been reported in RTS [1][2][3][4][5][6][7][8][9][10][11]. Whether osteosarcomatosis is truly a multifocal osteosarcoma or is a rapidly metastasizing unifocal osteosarcoma, it remains a rare entity that has been described only once previously in association with RTS [ 8].…”

mentioning

confidence: 87%

“…These findings seem Current treatment of osteosarcoma is based on to explain the high incidence of osteosarcomas that a combination of chemotherapy and surgery. It is occurs in RTS patients [1,2,4,8].…”

Section: Case Reportmentioning

confidence: 99%

“…hyper-or hypo-pigmented atrophic areas in a Moreover, the malignant potential of benign telangiectasic network. Veruciform hyperkeratic bone lesions is well known [ 1,2,5,9,10 ]. The plaques develop in addition to these initial lesions varying dysplastic lesions encountered in RTS (see and persist for life [ 1,6,10].…”

Section: Case Reportmentioning

confidence: 99%

“…Veruciform hyperkeratic bone lesions is well known [ 1,2,5,9,10 ]. The plaques develop in addition to these initial lesions varying dysplastic lesions encountered in RTS (see and persist for life [ 1,6,10]. Among the non- Table 2) may therefore be considered as a major dermatological features inconstantly associated predisposing factor in sarcomatous transformation, with the cutaneous lesions of RTS (Table 1), skelparticularly as the mean age for a developing etal changes ( 11.3 years, is lower than the peak-frequency age of Many authors have reported a high incidence of 15 years for osteosarcoma in the general popumalignant disorders in RTS patients, particularly lation.…”

Section: Case Reportmentioning

confidence: 99%

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Osteosarcomatosis with Rothmund-Thomson syndrome.

El-Khoury

Haddad²,

Atallah³

1997

The British Journal of Radiology

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We describe the second reported case of multicentric osteosarcoma associated with Rothmund-Thomson syndrome (RTS), a rare hereditary cancer-prone genodermatosis characterized by typical cutaneous lesions and other non-dermatological pathological manifestations, particularly skeletal changes. A high incidence of malignant disorders has been found in RTS patients. This could be explained by the diminished capacity of DNA-repair demonstrated in the fibroblasts of RTS patients following exposure to oncogenic stimuli. The severe cutaneous lesions and the benign bone lesions found in RTS may be considered a predisposing factor to the particularly frequent skin carcinoma and osteogenic sarcoma encountered in these cancer-prone patients. A brief review of the literature is given, with a discussion of the association between these two rare conditions.

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confidence: 87%

Section: Case Reportmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

See 2 more Smart Citations

Osteosarcomatosis with Rothmund-Thomson syndrome.

El-Khoury

Haddad²,

Atallah³

1997

The British Journal of Radiology

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“…Until now, only non-melanoma skin cancers are reported [1, 19, 20, 21] which appear at a relatively young age. Also non-cutaneous malignancies are found, mostly osteosarcomas [22, 23, 24, 25, 26, 27, 28]. Other tumours that are described are fibrosarcoma [19], parathyroid adenoma [29], Hodgkin’s ‘sarcoma’ [20] and gastric carcinoma [30].…”

Section: Discussionmentioning

confidence: 99%

A Female Patient with the Rothmund-Thomson Syndrome Associated with Anhidrosis and Severe Infections of the Respiratory Tract

et al. 1998

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The Rothmund-Thomson syndrome is a rare syndrome which is believed to be inherited in an autosomal pattern. Poikiloderma of the face and extremities is a characteristic feature. Besides this, less common aspects have been reported like alopecia, cataracts, short stature, musculoskeletal/bone defects or small hands, hypogonadism, abnormal teeth, dysplastic nails, anhidrosis and a high incidence of cutaneous and non-cutaneous malignancies. We present a patient with the Rothmund-Thomson syndrome together with anhidrosis and multiple infections of the upper and lower respiratory tract. Investigation of immunological function revealed a low total number of T lymphocytes with a slightly depressed reactivity. Immunoglobulins were markedly increased.

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Rothmund-Thomson syndrome due toRECQ4 helicase mutations: Report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome

et al. 2000

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Rothmund-Thomson syndrome (RTS), an autosomal recessive disorder, comprises poikiloderma, growth deficiency, some aspects of premature aging, and a predisposition to malignancy, especially osteogenic sarcomas. Two kindreds with RTS were recently shown to segregate for mutations in the human RECQL4 helicase gene. We report identification of a new RTS kindred in which both brothers developed osteosarcomas. Mutation analysis of the RECQL4 gene was performed on both brothers and both parents. The brothers were shown to be compound heterozygotes for mutations in the RECQL4 gene, including a single basepair deletion in exon 9 resulting in a frameshift and early termination codon and a base substitution in the 3-prime splice site in the intron-exon boundary of exon 8, which would be predicted to cause a deletion of at least part of a consensus helicase domain. Each parent was shown to be a heterozygote carrier for one mutation. This report strengthens the association between mutations in RECQL4 helicase gene and RTS. Two other recessive disorders, Bloom syndrome and Werner syndrome, are known to be due to other human RECQ helicase gene mutations. These three disorders all manifest abnormal growth, premature aging, and predisposition to site-specific malignancies. The clinical and molecular aspects of RTS, Bloom syndrome, and Werner syndrome are compared and contrasted.

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Case report 529

Cited by 20 publications

References 12 publications

Osteosarcomatosis with Rothmund-Thomson syndrome.

Osteosarcomatosis with Rothmund-Thomson syndrome.

A Female Patient with the Rothmund-Thomson Syndrome Associated with Anhidrosis and Severe Infections of the Respiratory Tract

Rothmund-Thomson syndrome due toRECQ4 helicase mutations: Report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome

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