title: Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.
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.
authors.affiliation: Department of Medical Genetics, St Mary's Hospital, Manchester, UK.
authors.forename: B
authors.initials: B
authors.lastname: Kerr
authors.forename: G S
authors.initials: GS
authors.lastname: Ashcroft
authors.forename: D
authors.initials: D
authors.lastname: Scott
authors.forename: M A
authors.initials: MA
authors.lastname: Horan
authors.forename: M W
authors.initials: MW
authors.lastname: Ferguson
authors.forename: D
authors.initials: D
authors.lastname: Donnai
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002877:Chromosomes, Human / Q000528:radiation effects*; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D011836:Radiation Tolerance / Q000235:genetics*; D011038:Rothmund-Thomson Syndrome / Q000150:complications / Q000235:genetics*; D012867:Skin / Q000473:pathology*