Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity
| Autor: | Dian Donnai, Bronwyn Kerr, M W Ferguson, M A Horan, G S Ashcroft, David Scott |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Adolescent DNA repair Biology Radiation Tolerance Short stature Pregnancy Intellectual Disability Intellectual disability Genetics medicine Chromosomes Human Humans Radiosensitivity Rothmund–Thomson syndrome Growth Disorders Genetics (clinical) Pigmentation disorder Skin Infant Newborn Rothmund-Thomson Syndrome Chromosome medicine.disease Phenotype Child Preschool Female sense organs medicine.symptom Research Article |
| Zdroj: | Journal of Medical Genetics. 33:928-934 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.33.11.928 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|