Linked Life Data

11438000

Source:http://linkedlifedata.com/resource/pubmed/id/11438000

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2001-7-4
pubmed:abstractText
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that is caused by a DNA repair defect. It is characterized mainly by skin, eye, and skeletal abnormalities. Cutaneous changes appear at between 3 and 6 months of age and include poikiloderma, photosensitivity, scaling, hyperkeratosis, and disturbance of hair growth. Other abnormalities include cataracts, congenital bone defects, soft tissue contractures, and osteogenesis imperfecta. Various malignancies have been reported in association with RTS, including osteosarcoma, fibrosarcoma, and nonmelanoma skin cancers. The myelodysplastic syndromes are a group of hematologic disorders defined by morphologic abnormalities of the three cell lines. The pathogenesis of myelodysplasia is a multistep process that begins with a somatic mutation in the pluripotential stem cell, which is irreversibly altered and acquires a survival advantage. Myelodysplasia in the young and RTS are both rare conditions. We report a patient with RTS and myelodysplasia. This is the second reported case of an association between these two conditions, which are both likely to be due to a common etiologic cause of nonrepair of stem cell DNA damage. Clinicians should be aware of the potential of this complication arising in patients with RTS.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0736-8046
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
210-2
pubmed:dateRevised
2009-3-3
pubmed:meshHeading
pubmed:articleTitle
Rothmund-Thomson syndrome with myelodysplasia.
pubmed:affiliation
Department of Dermatology, Glasgow Royal Infirmary Glasgow, Scotland, UK. shalini@snarayan.fsnet.co.uk
pubmed:publicationType
Journal Article, Case Reports