Rothmund-Thomson syndrome: A case report

Haytaç, M.Cenk; Öztunç, Haluk; Mete, Ufuk; Kaya, Mehmet

doi:10.1067/moe.2002.127584

Cited by 20 publications

(13 citation statements)

References 23 publications

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“…They include a wide variety of malformations such as microdontia, rudimentary or hypoplastic teeth, multiple and unusual crown formations, and disorders of dental breakthrough. Structural defects of connective tissue have been shown by electron microscopy on a gingival biopsy specimen from one case [23]. Dental abnormalities affecting the complete permanent dentition, which were detected by radiographic examination, have been described in detail in an adult male patient with RTS.…”

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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Section: Clinical Descriptionmentioning

confidence: 99%

Rothmund-Thomson syndrome

Larizza

Roversi

Volpi

2010

Orphanet J Rare Dis

246

276

View full text Add to dashboard Cite

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“…Rudimentary teeth, faulty root formation, microdontia, and higher susceptibility for dental caries [ 5 6 ] characterize the dental alterations of RTS, when present. Moreover, delays in tooth eruption, rhomboid glossitis, and hyperkeratotic tongue were also reported.…”

Section: Discussionmentioning

confidence: 99%

“…There are a few reports in the literature of oral characteristics of RTS to date, but none regarding the impact of dental treatment on the life of patients with this syndrome. [ 4 5 ] The aim of this study was to report the clinical findings, dental treatment, and improvement in quality of life for a child with RTS.…”

Section: Introductionmentioning

confidence: 99%

Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome

et al. 2016

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The purpose of this study was to report the clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome. The patient had alopecia, delayed speech, low weight and height, cholestasis, and iron deficiency anemia. Furthermore, there were carious lesions and darkened spots on all primary molars. Microdontia of a premolar was observed at the radiographic examination. The patient and family had no commitment to her oral health and dental treatment at first appointments. Oral hygiene instructions, composite restorations, endodontic treatments, teeth extractions, and stainless steel crown installations were performed. The patient was followed up for 7 years through the present due to other possible future clinical findings associated with the syndrome. An improvement in social aspects was observed after removal of toothache and improved esthetics. Such patients need continuous periodic services, which contributes to improving the quality of life in both buccal and general aspects.

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“…While most of the findings of RTS will be elicited on clinical exam and history, there are several characteristic findings that will be encountered on imaging of the teeth and skeleton. Several types of dental abnormalities have been described in association with RTS, including rudimentary or hypoplastic teeth, microdontia, delayed eruption, supernumerary or absent teeth, ectopic eruption, and increased incidence of caries [ 10 , 11 ]. Skeletal anomalies are seen in approximately 75% of patients, with anomalies including osteopenia, pathologic fractures, dislocations, patella ossification anomalies, metaphyseal irregularities, and radial limb abnormalities [ 9 , 12 ].…”

Section: Discussionmentioning

confidence: 99%

Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome

Beckmann

2015

Case Reports in Medicine

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Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various skeletal anomalies, juvenile cataracts, and predisposition to certain cancers. Although Rothmund-Thomson syndrome is associated with diminished bone mineral density in addition to multiple skeletal abnormalities, there are few reports of the association with stress fractures or pathologic fractures in low energy trauma or delayed healing of fractures. Presented is a case of a young adult male with Rothmund-Thomson syndrome presenting with multiple episodes of long bone fractures caused by low energy trauma with one of the fractures exhibiting significantly delayed healing. The patient was also found to have an asymptomatic stress fracture of the lower extremity, another finding of Rothmund-Thomson syndrome rarely reported in the literature. A thorough review of the literature and comprehensive presentation of Rothmund-Thomson syndrome is provided in conjunction with our case.

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Rothmund-Thomson syndrome: A case report

Cited by 20 publications

References 23 publications

Rothmund-Thomson syndrome

Rothmund-Thomson syndrome

Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome

Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome

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