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Rothmund-Thomson syndrome.
Rothmund-Thomson syndrome, also known as poikiloderma congenitale, is a heritable disorder characterized by chromosomal instability.
Chromosomal rearrangements causing genomic instability are found in the cells of Rothmund-Thomson syndrome patients.
This is also associated with Rothmund-Thomson syndrome and Baller-Gerold syndrome.
Among them, xeroderma pigmentosum and Rothmund-Thomson syndrome (poikiloderma congenita) are thought to be the most prominent.
Rothmund-Thomson Syndrome (RTS)
Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund-Thomson Syndrome.
This disorder was to become known as the Rothmund-Thomson Syndrome; named in conjunction with British physician Matthew Sydney Thomson (1894-1969).
Rothmund-Thomson syndrome and xeroderma pigmentosum display symptoms dominated by vulnerability to cancer, whereas progeria and Werner syndrome show the most features of "accelerated aging".
Rothmund-Thomson syndrome (i.e. autosomal recessive association of congenital bone defects, hair and skin dysplasias, hypogonadism, and cataracts) is associated with increased risk of this disease.
Mutations in the RECQ4 gene have been found in persons with Rothmund-Thomson syndrome, a rare premature aging and cancer-prone disorder [ 16].
Borg MF, Olver IN, Hill MP: Rothmund-Thomson syndrome and tolerance of chemoradiotherapy.
Wang LL, Levy ML, Lewis RA, et al.: Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
Hicks MJ, Roth JR, Kozinetz CA, et al.: Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome.
Mosaic trisomy 8 has been reported in rare cases of Rothmund-Thomson syndrome, a genetic disorder associated with the DNA helicase RECQL4 on chromosome 8q24.3.
Piquero-Casals J, Okubo AY, Nico MM: Rothmund-thomson syndrome in three siblings and development of cutaneous squamous cell carcinoma.
Kitao S, Lindor NM, Shiratori M, et al.: Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.
Rothmund-Thomson syndrome, also known as poikiloderma congenitale, is characterized by premature aging, skin and skeletal abnormalities, rash, poikiloderma, juvenile cataracts, and a predisposition to cancers such as osteosarcomas.
These include ataxia telangiectasia, Nijmegen breakage syndrome, some subgroups of xeroderma pigmentosum, trichothiodystrophy, Fanconi anemia, Bloom syndrome and Rothmund-Thomson syndrome.
Wang LL, Gannavarapu A, Kozinetz CA, et al.: Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
Rothmund-Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma congenitale, is a rare autosomal recessive skin condition originally described by August von Rothmund (1830-1906) in 1868.
Poikiloderma Congenitale Poikiloderma Atrophicans and Cataract RTS None Rothmund-Thomson syndrome (RTS) is a rare genetic disorder that can affect many parts of the body.
Werner SR, Prahalad AK, Yang J, et al.: RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome.
Petkovic M, Dietschy T, Freire R, et al.: The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability.
Rothmund-Thomson syndrome, or poikiloderma congenitale, is a rare disorder, generally attributed to mutations of the RECQL4 helicase gene on 8q24 with features that include photosensitivity and poikilodermatous skin changes, etc., and has been reported in one celiac patient.