Rothmund Thomson Syndrome Associated with Esophageal Stenosis: Report of a Case

Güler, Osman; Aydin, Metin; Uğraş, Serdar; Kişli, Erol; Metin, Ahmet

doi:10.1007/s005950050237

Cited by 9 publications

(9 citation statements)

References 9 publications

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“…Intraoral findings of RTS are listed as microdontia, rudimentary, or hypoplastic teeth, multiple crown malformations, short and conical teeth, increase in prevalence of caries, malocclusion, hypodontia/oligodontia or hyperdontia, ectopic eruption, and delay in eruption. Bifid uvula also has been reported [1, 3, 5, 7]. Our case presented oligodontia.…”

Section: Discussionsupporting

confidence: 70%

Oral Findings of Rothmund-Thomson Syndrome

Canger

Çelenk

Devrim

et al. 2013

Case Reports in Dentistry

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Rothmund-Thomson syndrome (RTS) is an extremely rare genetic condition exhibiting some dermatological, craniofacial, ophthalmological, and central nervous system abnormalities. It has an autosomal, recessive inheritance and its signs begin at childhood. Essential dermatological alteration is poikilodermatosis. A large head with an frontal bossing and broad low nasal bridge has been described in patients with RTS. Bilateral juvenile cataract is a characteristic finding of patients with RTS. Most of the patients have been markedly short and the growth retardation has been proportionate. Mental retardation is a rare condition. An 11-year-old girl who had been previously diagnosed with RTS was consulted with a chief complaint of delaying in tooth eruption. Intraoral examination revealed median rhomboid glossitis in addition to hyperkeratotic tongue. This report aimed to not only present intraoral findings of RTS, but also to demonstrate the lingual findings of a patient with RTS.

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Section: Discussionsupporting

confidence: 70%

Oral Findings of Rothmund-Thomson Syndrome

Canger

Çelenk

Devrim

et al. 2013

Case Reports in Dentistry

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“…Other manifestations of RTS can include various bone defects (small build, microcephaly, scoliosis, small hands and feet, prominent frontal boss, hypoplasia of the ulna/radium/calf bone, diffused or localized osteoporosis, aplastic or bipartite patella, syndactyly) dental deformations (microdontia and dental breakthrough disorders) gastrointestinal disorders (anal, duodenal or esophagus stenosis, annular pancreas and recto-vaginal fistula) genital defects (hypogonadism, amenorrhea and sterility) and psychomotor retardation. 7,8,[10][11][12] The etiology of this syndrome has been the subject of much speculation. A cytogenetic analysis performed on fibroblasts and lymphocytes revealed the presence of karyotype irregularities such as supernumerary chromosomes (mosaic trisomy: 2, 7, 8) and isochromosomes (2q, 7q, 8q and 21q).…”

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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“…1 A decade ago, Güler et al described a case of upper esophageal stenosis in a 33-year-old male patient diagnosed with RTS also suffering from dysphagia. 2 The present is a report on a female patient diagnosed with RTS who was referred to our unit because of severe dysphagia and esophageal stenosis.…”

Section: Introductionmentioning

confidence: 95%

Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis

Polese¹,

Merigliano²,

Mungo³

et al. 2011

Diseases of the Esophagus

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Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. While its incidence is unknown, approximately 300 cases have been reported in the literature. The syndrome typically presents with a characteristic facial rash (poikiloderma), its diagnostic hallmark, and heterogeneous clinical features including congenital skeletal abnormalities, sparse hair distribution, juvenile cataracts, and a predisposition to osteosarcoma. Gastrointestinal symptoms, such as pyloric stenosis, anal atresia, annular pancreas, and rectovaginal fistula, have also been reported sporadically. This is a report describing a patient diagnosed with RTS referred to us because of dysphagia caused by esophageal stenosis. Long-term results of endoscopic dilation are also presented.

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Rothmund Thomson Syndrome Associated with Esophageal Stenosis: Report of a Case

Cited by 9 publications

References 9 publications

Oral Findings of Rothmund-Thomson Syndrome

Oral Findings of Rothmund-Thomson Syndrome

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

Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis

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