Rothmund‐Thomson Syndrome: A Case Report

Roth, Donna E.; Campisano, L C; Jp, Callen; Hersh, Joseph H.; Yusk, Janice W.

doi:10.1111/j.1525-1470.1989.tb00918.x

Cited by 19 publications

(7 citation statements)

References 9 publications

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“…6 However, our report describes the first case of RTS associated with esophageal stenosis. Esophageal stenosis has been associated with various other conditions.…”

Section: Discussionmentioning

confidence: 88%

“…3 Although isolated cases of RTS associated with an anteriorly placed stenotic anus, gastroesophageal reflux, annular pancreas, and duodenal stenosis have been documented, to our knowledge no previous case of a patient with RTS having upper esophageal stenosis has ever been reported. 6 Esophagus contrast radiographs or upper gastrointestinal contrast radiographs may show the stenosis, and while computed tomography can confirm the site of stenosis, it cannot define its cause. A definitive diagnosis usually requires endoscopic and histopathological examination.…”

Section: Introductionmentioning

confidence: 98%

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

et al. 1998

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Rothmund Thomson syndrome (RTS) is a rare autosomal recessive disorder which is primarily diagnosed by clinical manifestations that include poikiloderma, short stature, sparse hair distribution, juvenile cataracts, small hands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and hyperkeratosis. Although a few reports have been published on patients with RTS associated with gastrointestinal abnormalities, to our knowledge the case described herein is the first documentation of a patient with RTS having upper esophageal stenosis.

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“…6 However, our report describes the first case of RTS associated with esophageal stenosis. Esophageal stenosis has been associated with various other conditions.…”

Section: Discussionmentioning

confidence: 88%

Section: Introductionmentioning

confidence: 98%

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

et al. 1998

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“…Fewer than 200 cases of RTS are reported in the literature (11). To the best of our knowledge, an association between RTS and myelodysplasia has been previously reported in only one instance (7), although both immunologic alterations, in terms of T‐ and B‐lymphocyte numbers and function (1,12,13), and hematologic diseases such as aplastic anemia (11) and acute myeloid leukemia (14) are sometimes described. Myelodysplastic syndromes, rarely observed in the pediatric age group, are hematopoietic disorders having inadequate production of one or more cell lines with accompanying morphologic abnormalities and a highly malignant progression (15).…”

Section: Discussionmentioning

confidence: 99%

Rothmund‐Thomson Syndrome (Thomson‐Type) and Myelodysplasia

Pianigiani

Aloe

Andreassi

et al. 2001

Pediatric Dermatology

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Rothmund-Thomson syndrome (RTS) is a genetic disease characterized by developmental abnormalities and poikilodermatous skin changes that appear in infancy. An association with myelodysplastic syndromes is rarely reported in RTS, even though impairment of immune function and recurrent infections are described in the literature. A case of Thomson-type RTS in a 14-year-old girl with trilinear myelodysplasia is presented. The patient was kept under hematologic surveillance for myelodysplastic syndrome. Bone marrow transplantation was considered unnecessary at present.

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“…The total number of T lymphocytes is low, their reactivity is slightly depressed. So far there are rare reports of children with the Rothmund-Thomson syndrome accompanied with frequent infections, depressed T-lymphocyte counts and impaired lymphocyte function [8, 9, 10]. Some authors also report depressed immunoglobulin levels [8, 11].…”

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: A Case Report

Abstract: We present a 4-year-old girl with poikiloderma, radial aplasia, short stature, facial dysmorphism, and sparse hair. We believe these findings to be consistent with a diagnosis of Rothmund-Thomson syndrome.

Cited by 19 publications

References 9 publications

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

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

Rothmund‐Thomson Syndrome (Thomson‐Type) and Myelodysplasia

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

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