Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.

2.50
Hdl Handle:
http://hdl.handle.net/10541/95841
Title:
Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.
Authors:
Kerr, B; Ashcroft, G S; Scott, David; Horan, M A; Ferguson, M W; Donnai, D
Abstract:
Rothmund-Thomson syndrome is a rare, autosomal recessive disorder associated with characteristic cutaneous changes, sparse hair, juvenile cataracts, short stature, skeletal defects, dystrophic teeth and nails, and hypogonadism. Mental retardation is unusual. An increased incidence of certain malignancies has been reported. Clonal or mosaic chromosome abnormalities and abnormalities in DNA repair mechanisms have been reported in some cases. We report two cases of Rothmund-Thomson syndrome, both with intellectual handicap, associated in one with a previously undescribed histological appearance of involved skin, suggesting that the spectrum of abnormalities is even more heterogeneous than previously presumed. Both cases exhibited chromosomal radiosensitivity of lymphocytes which may be an indication of a DNA repair defect. This is the first report of an association between Rothmund-Thomson syndrome and unique, intrinsic, age related skin changes.
Affiliation:
Department of Medical Genetics, St Mary's Hospital, Manchester, UK.
Citation:
Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity. 1996, 33 (11):928-34 J. Med. Genet.
Journal:
Journal of Medical Genetics
Issue Date:
Nov-1996
URI:
http://hdl.handle.net/10541/95841
DOI:
10.1136/jmg.33.11.928
PubMed ID:
8950673
Type:
Article
Language:
en
ISSN:
0022-2593
Appears in Collections:
All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
dc.contributor.authorKerr, Ben
dc.contributor.authorAshcroft, G Sen
dc.contributor.authorScott, Daviden
dc.contributor.authorHoran, M Aen
dc.contributor.authorFerguson, M Wen
dc.contributor.authorDonnai, Den
dc.date.accessioned2010-04-07T10:24:16Z-
dc.date.available2010-04-07T10:24:16Z-
dc.date.issued1996-11-
dc.identifier.citationRothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity. 1996, 33 (11):928-34 J. Med. Genet.en
dc.identifier.issn0022-2593-
dc.identifier.pmid8950673-
dc.identifier.doi10.1136/jmg.33.11.928-
dc.identifier.urihttp://hdl.handle.net/10541/95841-
dc.description.abstractRothmund-Thomson syndrome is a rare, autosomal recessive disorder associated with characteristic cutaneous changes, sparse hair, juvenile cataracts, short stature, skeletal defects, dystrophic teeth and nails, and hypogonadism. Mental retardation is unusual. An increased incidence of certain malignancies has been reported. Clonal or mosaic chromosome abnormalities and abnormalities in DNA repair mechanisms have been reported in some cases. We report two cases of Rothmund-Thomson syndrome, both with intellectual handicap, associated in one with a previously undescribed histological appearance of involved skin, suggesting that the spectrum of abnormalities is even more heterogeneous than previously presumed. Both cases exhibited chromosomal radiosensitivity of lymphocytes which may be an indication of a DNA repair defect. This is the first report of an association between Rothmund-Thomson syndrome and unique, intrinsic, age related skin changes.en
dc.language.isoenen
dc.subject.meshAdolescent-
dc.subject.meshAdult-
dc.subject.meshChild, Preschool-
dc.subject.meshChromosomes, Human-
dc.subject.meshFemale-
dc.subject.meshGrowth Disorders-
dc.subject.meshHumans-
dc.subject.meshInfant, Newborn-
dc.subject.meshMale-
dc.subject.meshMental Retardation-
dc.subject.meshPregnancy-
dc.subject.meshRadiation Tolerance-
dc.subject.meshRothmund-Thomson Syndrome-
dc.subject.meshSkin-
dc.titleRothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.en
dc.typeArticleen
dc.contributor.departmentDepartment of Medical Genetics, St Mary's Hospital, Manchester, UK.en
dc.identifier.journalJournal of Medical Geneticsen

Related articles on PubMed

All Items in Christie are protected by copyright, with all rights reserved, unless otherwise indicated.