Case report 760

Sim, Franklin H.; Devries, Ellen M. G.; Miser, James S.; Unni, K. Krishnan

doi:10.1007/bf00195240

Cited by 25 publications

(7 citation statements)

References 11 publications

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“…Besides the isolated osteosarcoma (OS), seven cases of multicentric OS (OSMC) have been reported [19,42-44]. Osteosarcoma is usually defined as multicentric if the tumour occurs at two or more sites in a patient in the absence of pulmonary metastases.…”

Section: Clinical Descriptionmentioning

confidence: 99%

Rothmund-Thomson syndrome

Larizza

Roversi

Volpi

2010

Orphanet J Rare Dis

250

276

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Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to cancer. The prevalence is unknown but around 300 cases have been reported in the literature so far. The diagnostic hallmark is facial erythema, which spreads to the extremities but spares the trunk, and which manifests itself within the first year and then develops into poikiloderma. Two clinical subforms of RTS have been defined: RTSI characterised by poikiloderma, ectodermal dysplasia and juvenile cataracts, and RTSII characterised by poikiloderma, congenital bone defects and an increased risk of osteosarcoma in childhood and skin cancer later in life. The skeletal abnormalities may be overt (frontal bossing, saddle nose and congenital radial ray defects), and/or subtle (visible only by radiographic analysis). Gastrointestinal, respiratory and haematological signs have been reported in a few patients. RTS is transmitted in an autosomal recessive manner and is genetically heterogeneous: RTSII is caused by homozygous or compound heterozygous mutations in the RECQL4 helicase gene (detected in 60-65% of RTS patients), whereas the aetiology in RTSI remains unknown. Diagnosis is based on clinical findings (primarily on the age of onset, spreading and appearance of the poikiloderma) and molecular analysis for RECQL4 mutations. Missense mutations are rare, while frameshift, nonsense mutations and splice-site mutations prevail. A fully informative test requires transcript analysis not to overlook intronic deletions causing missplicing. The diagnosis of RTS should be considered in all patients with osteosarcoma, particularly if associated with skin changes. The differential diagnosis should include other causes of childhood poikiloderma (including dyskeratosis congenita, Kindler syndrome and Poikiloderma with Neutropaenia), other rare genodermatoses with prominent telangiectasias (including Bloom syndrome, Werner syndrome and Ataxia-telangiectasia) and the allelic disorders, RAPADILINO syndrome and Baller-Gerold syndrome, which also share some clinical features. A few mutations recur in all three RECQL4 diseases. Genetic counselling should be provided for RTS patients and their families, together with a recommendation for cancer surveillance for all patients with RTSII. Patients should be managed by a multidisciplinary team and offered long term follow-up. Treatment includes the use of pulsed dye laser photocoagulation to improve the telangiectatic component of the rash, surgical removal of the cataracts and standard treatment for individuals who develop cancer. Although some clinical signs suggest precocious aging, life expectancy is not impaired in RTS patients if they do not develop cancer. Outcomes in patients with osteosarcoma are similar in RTS and non-RTS patients, with a five-year survival rate of 60-70%. The...

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Section: Clinical Descriptionmentioning

confidence: 99%

Rothmund-Thomson syndrome

Larizza

Roversi

Volpi

2010

Orphanet J Rare Dis

250

276

View full text Add to dashboard Cite

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“…32,33 Osteosarcoma is the most frequent form of malignant tumor present, particularly among young subjects, with the mean age of onset being 14.03 years. In total, three cases of multicentric osteosarcoma were described [34][35][36] and 35 cases of isolated osteosarcoma largely involving the lower limbs (femur, tibia). 7,8,12,14,15,[37][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52] Three pairs of brothers affected with RTS were diagnosed with osteosarcoma, one having multicentric osteosarcoma, whereas in another three patients, in a period of 1-3 years, a second primary osteosarcoma developed.…”

Section: Discussionmentioning

confidence: 99%

“…7,8,12,14,15,[37][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52] Three pairs of brothers affected with RTS were diagnosed with osteosarcoma, one having multicentric osteosarcoma, whereas in another three patients, in a period of 1-3 years, a second primary osteosarcoma developed. 8,12,14,15,36,43,49 Two patients who were diagnosed with osteosarcoma developed a nasopharyngeal non-Hodgkin's lymphoma and a recurring squamous cell carcinoma of the lip, respectively. 8,35 Among the other mesenchymal tumors, a case of fibrosarcoma was reported in a 32-year-old male who had already been diagnosed with a squamous cell carcinoma of the right leg.…”

Section: Discussionmentioning

confidence: 99%

Multiple cutaneous neoplasms in a patient with Rothmund–Thomson syndrome: Case report and published work review

Stinco

Governatori

Mattighello

et al. 2008

The Journal of Dermatology

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Rothmund-Thomson syndrome (RTS) is a rare genodermatosis characterized by early poikilodermatous skin lesions, often combined with juvenile cataracts, photosensitivity and bone defects. Data in the published work indicate that there is an increased risk of RTS patients developing malignant tumors. Herein, we report the multiple skin carcinomas observed in a case of RTS and review the published work on the occurrence of malignant tumors in these patients. We report the case of a 63-year-old male with RTS who developed multiple cutaneous neoplasms (three basal cell carcinomas, three squamous cell carcinomas and Bowen's disease) over the previous 15 years. A published work review confirmed that RTS is a genetic condition that predisposes subjects to the development of bone tumors, especially at an early age, and skin tumors at an adult age. Therefore, alongside careful osteoarticular monitoring to identify a bone tumor quickly, during the life of a patient suffering from the syndrome, it is just as important to take appropriate preventive action and monitor the possible onset of skin tumors.

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“…One describes the use of a modular prosthesis as a spacer, solely as a non-functional-limb-saving procedure (Sim et al 1992). Most studies, however, advocate amputation wherever possible because of the poor prognosis of the disease and the necessary radical surgery.…”

Section: Discussionmentioning

confidence: 99%

The operative management of a malignant proximal humerus tumor represented by secondary Paget's osteosarcoma

Benthien

Fuhrmann

Venbrocks

1998

Journal of Cancer Research and Clinical Oncology

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Implantation of a modular prosthesis of the humerus may allow radical removal of a malignant tumor in that area while achieving early motion. In the literature, amputation is often advocated, as radical treatment with chemotherapy is not a successful option in this elderly patient group. We think the alternative use of a modular prosthesis of the humerus is possible in selected cases. We have encountered no other case in the literature where a limb-saving procedure attempts to preserve as much functionality as possible in Paget's osteosarcoma.

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Case report 760

Cited by 25 publications

References 11 publications

Rothmund-Thomson syndrome

Rothmund-Thomson syndrome

Multiple cutaneous neoplasms in a patient with Rothmund–Thomson syndrome: Case report and published work review

The operative management of a malignant proximal humerus tumor represented by secondary Paget's osteosarcoma

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