Rothmund‐Thomson Syndrome Associated with Annular Pancreas and Duodenal Stenosis: A Case Report

Blaustein, Howard S.; Stevens, Amy W.; Stevens, Peter D.; Grossman, Fred

doi:10.1111/j.1525-1470.1993.tb00046.x

Cited by 16 publications

(6 citation statements)

References 14 publications

(15 reference statements)

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“…Eight were direct contacts. Four of the patients had been reported previously [Blaustein et al, 1993;Lindor et al, 2000, Anbari et al, 2000Pujol et al, 2000]. Four patients were ascertained postmortem.…”

Section: Resultsmentioning

confidence: 99%

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Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

et al. 2001

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Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy, small stature, skeletal abnormalities, juvenile cataracts, and predisposition to specific cancers. We have identified a contemporary cohort of 41 patients to better define the clinical profile, diagnostic criteria, and management of patients with RTS. Patients with the diagnosis of RTS were ascertained by referrals from dermatology, ophthalmology, genetics, and oncology or from direct contact with the patient's family. Medical information was obtained from interviews with physicians, patients, and their parents and a review of medical records. The age range at ascertainment was 9 months to 42 years (28 males and 13 females; M:F, 2:1). All subjects displayed a characteristic rash. Thirteen subjects had osteosarcoma (OS) (32%), eight had radial defects (20%), seven had gastrointestinal findings (17%), two had cataracts (6%), and one had skin cancer (2%). Twenty-two of 28 patients without OS were less than 15 years old and thus remain at significant risk for this tumor. This case-series study reveals a clinical profile of RTS that includes a higher prevalence of OS and fewer cataracts, compared with historical reports. These differences may reflect either allelic or genetic heterogeneity. This study documents the frequency of clinical anomalies in a contemporary cohort of RTS patients and revises guidelines for diagnosis and management of RTS.

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Section: Resultsmentioning

confidence: 99%

“…Two subjects (ages 3 and 5 years) continue to be tube-fed. One of the subjects had been described previously to have duodenal stenosis and annular pancreas [Blaustein et al, 1993].…”

Section: Gastrointestinal Findingsmentioning

confidence: 99%

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

et al. 2001

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“…Oesophageal or pyloric stenosis, anal atresia, annular pancreas and rectovaginal fistula have been described [33]. Feeding problems may be encountered in infancy, with some patients requiring tube feeding.…”

Section: Clinical Descriptionmentioning

confidence: 99%

Rothmund-Thomson syndrome

Larizza

Roversi

Volpi

2010

Orphanet J Rare Dis

246

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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“…Eight were direct contacts. Four of the patients had been reported previously [Blaustein et al, 1993; Lindor et al, 2000, Anbari et al, 2000; Pujol et al, 2000]. Four patients were ascertained postmortem.…”

Section: Resultsmentioning

confidence: 99%

Multiscale prediction of crack density and crack length accumulation in trabecular bone based on neural networks and finite element simulation

Hambli¹

2010

Int. J. Numer. Meth. Biomed. Engng.

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SUMMARYIn this paper, a novel multiscale algorithm to simulate accumulation of trabecular bone crack density and crack length at macroscopic scale during cyclic loading is developed. The method is based on finite element analysis and neural network computation to link mesoscopic (trabecular level) and macroscopic (whole femur) scales. The finite element calculation is performed at the macroscopic level and a trained neural network incorporated into the finite element code Abaqus is employed as a numerical device to perform the local mesoscopic computation. Based on a set of mesoscale simulations of representative volume elements obtained by digital image-based modeling technique using -CT and voxel finite element, a neural network is trained to approximate the local finite element responses. The input data for the artificial neural network are the applied stress, the stress orientation and the cycle frequency. The output data are the averaged crack density and crack length at a given site of the bone.

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Rothmund‐Thomson Syndrome Associated with Annular Pancreas and Duodenal Stenosis: A Case Report

Cited by 16 publications

References 14 publications

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

Rothmund-Thomson syndrome

Multiscale prediction of crack density and crack length accumulation in trabecular bone based on neural networks and finite element simulation

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