HOME PRODUCTS SERVICES COMPANY CONTACT FAQ

Rothmund-Thomson Syndrome (Syndrome, Rothmund-Thomson)

Subscribe to New Research on Rothmund-Thomson Syndrome

An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.

Also Known As:

Syndrome, Rothmund-Thomson; Poikiloderma Atrophicans and Cataract; Poikiloderma of Rothmund-Thomson; Congenitale, Poikiloderma; Congenitales, Poikiloderma; Poikiloderma Congenitales; Poikiloderma of Rothmund Thomson; Rothmund Thomson Syndrome; Rothmund-Thomson Poikiloderma; Rothmund-Thomson Poikilodermas; Poikiloderma Congenitale

Networked: 38 relevant articles (0 outcomes, 1 trials/studies) for this Disease, Comments

Disease Context: Research Results

Related Diseases

1.	Werner Syndrome (Werner's Syndrome)
2.	Progeria (Hutchinson Gilford Syndrome)
3.	Cockayne Syndrome (Syndrome, Cockayne)
4.	Down Syndrome (Down's Syndrome)
5.	Ataxia (Dyssynergia)

Experts

1.	Xu, Xiaohua: 2 articles (10/2009 - 03/2009)
2.	Liu, Yilun: 2 articles (10/2009 - 03/2009)
3.	Tada, Shusuke: 2 articles (08/2008 - 01/2006)
4.	Seki, Masayuki: 2 articles (08/2008 - 01/2006)
5.	Enomoto, Takemi: 2 articles (08/2008 - 01/2006)
6.	Woo, Leslie L: 2 articles (07/2008 - 10/2006)
7.	Sharma, Sudha: 2 articles (01/2007 - 07/2005)
8.	Brosh, Robert M: 2 articles (01/2007 - 07/2005)
9.	Furuichi, Yasuhiro: 2 articles (10/2006 - 04/2002)
10.	Su, Tina V: 1 article (10/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Rothmund-Thomson Syndrome:

1.	UbiquitinIBA 11/01/2007 - "Recent data obtained by expression-profiling studies and studies of progeroid syndromes (e.g., Hutchinson-Gilford progeria, Werner syndrome, Rothmund-Thomson syndrome, Cockayne syndrome, ataxia teleangiectasia, and Down syndrome) illustrate that among the most important biological processes involved in skin aging are alterations in DNA repair and stability, mitochondrial function, cell cycle and apoptosis, ubiquitin-induced proteolysis, and cellular metabolism. " Order ALL the reference details at left...
2.	RecQ HelicasesIBA 10/07/2009 - "Mutations in RECQ4, a member of the RecQ family of DNA helicases, have been linked to the progeroid disease Rothmund-Thomson Syndrome. " 06/17/2005 - "Here, we implicate in this process the Xenopus laevis homolog (xRTS) of the RECQL4 helicase mutated in Rothmund-Thomson syndrome. " 11/01/2003 - "The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund-Thomson syndrome (RTS) patients. " 06/01/2002 - "Recently, five patients with Rothmund-Thomson syndrome were shown to segregate for mutations in RECQ4 helicase gene. " 03/31/2000 - "The Bloom's syndrome gene product, BLM, belongs to the RecQ family of DNA helicases, which also includes the human Werner's and Rothmund-Thomson syndrome gene products and the Sgs1 protein of Saccharomyces cerevisiae. " Order ALL the reference details at left...
3.	DNA (Deoxyribonucleic Acid)IBA 03/04/2009 - "Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4." 06/01/2000 - "[Rothmund-Thomson syndrome and defective DNA excision-resynthesis repair]" 05/01/1982 - "Rothmund Thomson syndrome (RTS) is an oculocutaneous and cancer-prone disorder in which enhanced carcinogen sensitivity, mediated through abnormal DNa metabolism, may be an associated factor. " 03/13/2001 - "The Saccharomyces cerevisiae SGS1 gene encodes a RecQ-like DNA helicase, human homologues of which are implicated in the genetic instability disorders, Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), and Werner syndrome (WS). " 09/01/2002 - "The Drosophila melanogaster RECQ5/QE gene encodes a member of the DNA helicase family comprising the Escherichia coli RecQ protein and products of the human Bloom's, Werner's, and Rothmund-Thomson syndrome genes. " Order ALL the reference details at left...
4.	Proteins (Proteins, Gene)IBA 09/15/2005 - "The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability." 07/01/2008 - "HR-associated genomic instabilities arise in three human genetic disorders, Bloom syndrome (BS), Werner syndrome (WS), and Rothmund-Thomson syndrome (RTS), which are caused by defects in three individual proteins of the RecQ family of helicases, BLM, WRN, and RECQL4, respectively. " Order ALL the reference details at left...
5.	DNA HelicasesIBA 04/01/2002 - "[Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases]" 08/15/2008 - "In human cells, there exist five RecQ DNA helicases, and mutations of three of these helicases, encoded by the BLM, WRN and RECQL4 genes, give rise to the cancer predisposition disorders, Bloom syndrome (BS), Werner syndrome (WS) and Rothmund-Thomson syndrome (RTS), respectively. " Order ALL the reference details at left...
6.	A-Form DNA (A-DNA)IBA 05/01/2001 - "Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that is caused by a DNA repair defect. " Order ALL the reference details at left...
7.	Growth Hormone (Somatotropin)IBA 04/01/1986 - "We describe the first proven occurrence of growth hormone deficiency in an individual with the Rothmund-Thomson syndrome. " 04/01/1986 - "Growth hormone deficiency in the Rothmund-Thomson syndrome." Order ALL the reference details at left...
8.	OligosaccharidesIBA 05/01/1979 - "Increased excretion of urinary glucose-containing oligosaccharides, specifically glucosylgalactose was observed in most of the patients with chondrosarcoma, rheumatoid arthritis, Werner's syndrome, Rothmund Thomson syndrome and Morquio's disease. " Order ALL the reference details at left...
9.	KynurenineIBA 01/01/1975 - "In a number of skin disturbances conditioned or aggravated by sunlight and/or mainly diffused to the cutaneous connective tissue (present acquired pellagra, lupus erythematosus, porphyria cutanea tarda, actinic reticuloid, Rothmund-Thomson syndrome, lymphocytoma cutis, scleroderma, dermatomyositis, burns, linphomas, parapsoriasis, acrodermatitis enteropathica) excretive changes were found only in the "via kynurenine" metabolites. " Order ALL the reference details at left...
10.	Immunoglobulin M (IgM)IBA 04/01/1981 - "The patients were two brothers and a sister (12, 11 and 9 years old) with clinical and pathological features of Rothmund-Thomson syndrome (Poikiloderma congenital) and mesangial proliferative glomerulonephritis with diffuse IgM deposits. " Order ALL the reference details at left...

Therapies and Procedures

1.	Dye Lasers 06/01/1991 - "Treatment of the poikilodermatous component of the Rothmund-Thomson syndrome with the flashlamp-pumped pulsed dye laser: a case report." Order ALL the reference details at left...
2.	Excimer Lasers 01/01/2000 - "PURPOSE: To report the use of excimer laser phototherapeutic keratectomy (PTK) in the treatment of corneal subepithelial nodular scarring in a child with Rothmund-Thomson syndrome (RTS), a form of ectodermal dysplasia. " Order ALL the reference details at left...
3.	Cord Blood Stem Cell Transplantation 04/01/2006 - "Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency." Order ALL the reference details at left...
4.	Radiotherapy 08/01/2004 - "We describe a male patient with Rothmund-Thomson syndrome (RTS) given postoperative radiotherapy for squamous carcinoma of the tongue. " Order ALL the reference details at left...
5.	Immunotherapy 01/01/1979 - "A constant gradual malignant degeneration of verrucous hyperkeratoses was observed in a now 16-year-old poikiloderma congenitale patient although topical immunotherapy of the warty lesions was partially successful and led to an improvement of T-cell functions." Order ALL the reference details at left...

blog comments powered by Disqus

Research Interface PRO

Rapidly retrieve clinical outcome summaries for all evidence of drug efficacy against any disease in seconds. Click "Charts" to view graphs of relative efficacy of all drugs against any known disease. CureHunter is unlike any "search engine" you have ever used. Where standard "search engines" produce lists of links, CureHunter quantifies evidence, extracts it from the literature and calculates a result you can use to immediately facilitate evidence based decision making in Real Clinical Time. Save hours of search and analysis time:

Two-clicks from Disease to Drug to Evidence: Drill down to full abstract
Enable Experts: Quickly identify key researchers and their publications
Enable FDA Link Generic: Two-clicks to FDA Products/Patents/Generics
Enable Export: All outcome statements and scores exportable to Excel/TSV for automated meta-analysis
Research Network: Explore drug and disease relationships visually
Enable Mobile Interface: Access from your cellphone, iPhone or PDA

Price:

$45.00 USD access via web interface
1 year subscription

Request Bulk Institution License Details >>