Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia
- PMID: 11737690
- DOI: 10.1046/j.1525-1470.2001.01971.x
Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia
Abstract
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.
Similar articles
-
Rothmund-Thomson syndrome with myelodysplasia.Pediatr Dermatol. 2001 May-Jun;18(3):210-2. doi: 10.1046/j.1525-1470.2001.018003210.x. Pediatr Dermatol. 2001. PMID: 11438000
-
Myelodysplastic syndrome in a child with Rothmund-Thomson syndrome: a case report.J Pediatr Hematol Oncol. 1996 Feb;18(1):96-7. doi: 10.1097/00043426-199602000-00020. J Pediatr Hematol Oncol. 1996. PMID: 8556381 No abstract available.
-
Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome.Eur J Haematol. 2011 Jun;86(6):536-40. doi: 10.1111/j.1600-0609.2011.01609.x. Eur J Haematol. 2011. PMID: 21418107
-
Short root anomaly associated with Rothmund-Thomson syndrome.Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Jan;103(1):e19-22. doi: 10.1016/j.tripleo.2006.07.021. Epub 2006 Oct 24. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007. PMID: 17178481 Review.
-
Delayed Union of a Jones Fracture in a Patient With Rothmund-Thomson Syndrome: A Case Report and Review of the Literature.J Foot Ankle Surg. 2016 Mar-Apr;55(2):291-3. doi: 10.1053/j.jfas.2014.09.009. Epub 2014 Oct 18. J Foot Ankle Surg. 2016. PMID: 25441286 Review.
Cited by
-
Mice heterozygous for CREB binding protein are hypersensitive to γ-radiation and invariably develop myelodysplastic/myeloproliferative neoplasm.Exp Hematol. 2012 Apr;40(4):295-306.e5. doi: 10.1016/j.exphem.2011.12.004. Epub 2011 Dec 20. Exp Hematol. 2012. PMID: 22198154 Free PMC article.
-
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.Clin Cancer Res. 2017 Jun 1;23(11):e23-e31. doi: 10.1158/1078-0432.CCR-17-0465. Clin Cancer Res. 2017. PMID: 28572264 Free PMC article. Review.
-
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.Orphanet J Rare Dis. 2012 Jan 23;7:7. doi: 10.1186/1750-1172-7-7. Orphanet J Rare Dis. 2012. PMID: 22269211 Free PMC article.
-
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.Am J Hum Genet. 2010 Jan;86(1):72-6. doi: 10.1016/j.ajhg.2009.11.014. Epub 2009 Dec 10. Am J Hum Genet. 2010. PMID: 20004881 Free PMC article.
-
De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants.Blood Sci. 2023 Feb 20;5(2):125-130. doi: 10.1097/BS9.0000000000000152. eCollection 2023 Apr. Blood Sci. 2023. PMID: 37228773 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical