Browse > Article

A case of Rothmund-Thomson syndrome  

Kim, Seung Hyo (Department of Pediatrics, College of Medicine, Seoul National University)
Shin, Choong Ho (Department of Pediatrics, College of Medicine, Seoul National University)
Yang, Sei Won (Department of Pediatrics, College of Medicine, Seoul National University)
Publication Information
Clinical and Experimental Pediatrics / v.49, no.5, 2006 , pp. 565-569 More about this Journal
Abstract
Rothmund-Thomson syndrome (RTS), is a rare autosomal recessive disorder, characterized by : skin photosensitivity, poikiloderma, sparse hair, sparse eyebrows/lashes, short stature, skeletal abnormalities, cataracts, and an increased risk of malignancy. Skeletal abnormalities include : dysplasia, absent or malformed bones, such as absent radii, osteopenia, and delayed bone formation. RTS is thought to result from chromosomal instability, and children with RTS are at risk of cancer. Reported cancers in children with RTS include : basal cell carcinoma, squamous cell carcinoma of the skin and osteosarcoma of bone. We report an 11 year-old boy, who presented to our institution with poikilodermatous skin change with telangiectasia and hyperpigmentation, absence of radius and thumb, and the development of osteosarcoma of the left tibia. The patient is now receiving supportive care and is receiving maintenance chemotherapy after surgery for osteosarcoma.
Keywords
Rothmund-Thomson syndrome; Absent radii; Osteosarcoma;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Anbari KK, Ierardi-Curto LA, Silber JS, Asada N, Spinner N, Zackai EH, et al. Two primary osteosarcomas in a patient with Rothmund-Thomson syndrome. Clin Orthop 2000;378:213-23   DOI
2 Cumin I, Cohen JY, David A, Mechinaud F, Avet-Loiseau H, Harousseau JL. Rothmund-Thomson syndrome and osteosarcoma. Med Pediatr Oncol 1996;26:414-6   DOI   ScienceOn
3 Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S. Rothmund-Thomson syndrome due to RECQ4 helicase mutations : report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am J Med Genet 2000;90:223-8   DOI   ScienceOn
4 Grant SG, Wenger SL, Latimer JJ, Thull D, Burke LW. Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome. Clin Genet 2000;58:209-15   DOI   ScienceOn
5 Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S. Rothmund-Thomson syndrome due to RECQ4 helicase mutations : report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am J Med Genet 2000;90:223-38   DOI   ScienceOn
6 Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, et al. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet 2001;102:11-7   DOI   ScienceOn
7 Spurney C, Gorlick R, Meyers PA, Healey JH, Huvos AG. Multicentric osteosarcoma, Rothmund-Thomson syndrome, and secondary nasopharyngeal non-Hodgkin's lymphoma : a case report and review of the literature. J Pediatr Hematol Oncol 1998;20:494-7   DOI   ScienceOn
8 Pianigiani E, De Aloe G, Andreassi A, Rubegni P, Fimiani M. Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia. Pediatr Dermatol 2001;18:422-5   DOI   ScienceOn
9 Ying KL, Oizumi J, Curry CJR. Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. Am J Med Genet 1990;27:258-60   DOI
10 Lindor NM, Devries EM, Michels VV, Schad CR, Jalal SM, Donovan KM, et al. Rothmund-Thomson syndrome in siblings : evidence for acquired in vivo mosaicism. Clin Genet 1996;49:124-9   DOI   ScienceOn
11 Thomson MS. A hitherto undescribed familial disease. Br J Dermatol 1923;35:455-62   DOI
12 Haytac MC, Oztunc H, Mete UO, Kaya M. Rothmund- Thomson syndrome : A case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2002;94:479-84   DOI   ScienceOn
13 Pujol LA, Erickson RP, Heidenreich RA, and Cunniff C. Variable presentation of Rothmund-Thomson sydrome. Am J Med Genet 2000;95:204-7   DOI   ScienceOn