Rothmund-Thomson Syndrome (Syndrome, Rothmund-Thomson)

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:

Networked: 75 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

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

Experts

1.	Bohr, Vilhelm A: 6 articles (07/2013 - 06/2010)
2.	Croteau, Deborah L: 5 articles (07/2013 - 06/2010)
3.	Brosh, Robert M: 4 articles (04/2013 - 07/2005)
4.	Furuichi, Yasuhiro: 3 articles (05/2012 - 04/2002)
5.	Walkley, Carl R: 2 articles (04/2015 - 08/2014)
6.	Purton, Louise E: 2 articles (04/2015 - 08/2014)
7.	Smeets, Monique F: 2 articles (04/2015 - 08/2014)
8.	Ghosh, Avik K: 2 articles (07/2013 - 01/2012)
9.	Popuri, Venkateswarlu: 2 articles (07/2013 - 05/2013)
10.	Tadokoro, Takashi: 2 articles (07/2013 - 05/2013)

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. "
2.	RecQ HelicasesIBA 08/01/2014 - "The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis." 01/01/2014 - "Deficiency of RecQ helicase RECQL4 leads to Rothmund-Thomson syndrome (RTS), and we have investigated whether senescence is involved using cellular approaches and a mouse model. " 05/15/2012 - "Mutations in RECQL4 helicase are associated with Rothmund-Thomson syndrome (RTS). " 01/02/2012 - "Although the RecQ helicases WRN and BLM are implicated in the resolution of telomeric secondary structures, very little is known about RECQL4, the RecQ helicase mutated in Rothmund-Thomson syndrome (RTS). " 06/01/2010 - "Rothmund-Thomson syndrome (RTS) is an autosomal recessive hereditary disorder associated with mutation in RECQL4 gene, a member of the human RecQ helicases. "
3.	Craniosynostosis radial aplasia syndromeIBA 06/01/2015 - "Rothmund-Thomson syndrome, RAPADILINO, and Baller-Gerold syndrome are rare genetic disorders caused by mutations in the RECQL4 gene. " 01/01/2013 - "RECQL4 mutations can lead to Rothmund-Thomson syndrome, Baller-Gerold syndrome, or RAPADILINO. " 10/01/2000 - "Although this patient was originally diagnosed as having Baller-Gerold syndrome it is more likely that he has Rothmund-Thomson syndrome or a similar disorder. " 04/01/2015 - "RECQL4 mutations are associated with Rothmund Thomson Syndrome (RTS), RAPADILINO Syndrome and Baller-Gerold Syndrome. " 04/01/2013 - "Complex phenotypes are also observed for RECQL4 helicase mutations responsible for Rothmund-Thomson syndrome, Baller-Gerold syndrome, or RAPADILINO. "
4.	Rapadilino syndromeIBA 02/01/2006 - "Clinical overlap between BGS, Rothmund-Thomson syndrome (RTS), and RAPADILINO syndrome is noticeable. " 05/01/2005 - "Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome (RAdial hypoplasia/aplasia, PAtellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size [>2 SDs below the mean in height] and LImb malformation, and slender NOse and NOrmal intelligence). " 10/15/2004 - "The Rothmund-Thomson syndrome (growth retardation, skin and bone defects, predisposition to cancer) and the RAPADILINO syndrome are caused by mutations in the RECQL4 gene. " 04/01/2015 - "RECQL4 mutations are associated with Rothmund Thomson Syndrome (RTS), RAPADILINO Syndrome and Baller-Gerold Syndrome. " 11/01/2012 - "Alterations in RECQL4 are associated with three diseases, Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO syndrome. "
5.	DNA (Deoxyribonucleic Acid)IBA 07/01/2013 - "The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions." 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). "
6.	Poikiloderma of KindlerIBA 11/01/2008 - "It is discussed within the group of the major hereditary poikiloderma disorders, that is, Rothmund-Thomson syndrome, dyskeratosis congenita, and Kindler syndrome." 01/01/1999 - "Kindler syndrome is an extremely rare genetic disorder with features of epidermolysis bullosa and poikiloderma congenitale. " 12/01/1996 - "Kindler syndrome is a genodermatosis that combines clinical features of hereditary epidermolysis bullosa and poikiloderma congenitale. " 10/01/1996 - "Weary-Kindler syndrome is a rare and poorly understood genetic disorder that has manifestations of both epidermolysis bullosa and poikiloderma congenitale. " 10/01/2014 - "The differential diagnosis of Kindler syndrome include other congenital poikilodermatous and photosensitive conditions including Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. "
7.	TrichothiodystrophyIBA 01/01/2014 - "Mutation in DNA repair genes may results in rare genetic disorders, including Xeroderma pigmentosum, Cockayne syndrom, trichothiodystrophy, Nijmegen syndrome, ataxia teleangiectasia, Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome. " 01/01/2003 - "Inherited conditions due to mutations in DNA repair genes include mainly: xeroderma pigmentosum, Cockayne syndrome, Trichothiodystrophy, Bloom syndrome, Rothmund-Thomson syndrome, and Werner syndrome. " 08/01/2009 - "These syndromes comprise diseases such as Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome, Hutchinson-Gilford syndrome, Fanconi anemia, and ataxia-telangiectasia, as well as xeroderma pigmentosum, trichothiodystrophy, and Cockayne syndrome. " 10/01/2009 - "In this review, we highlight these recent developments in Hutchinson-Gilford progeria syndrome (HGPS), Werner syndrome, Bloom syndrome, Cockayne syndrome, trichothiodystrophy, ataxia-telangiectasia, Rothmund-Thomson syndrome, and xeroderma pigmentosum. " 05/01/2006 - "This article describe syndromes where hereditary mutations are the reason of chromosomal instability and cause serious clinical results: ataxia-telangiectasia, Nijmegen breakage syndrome, Bloom syndrome, Fanconi's anemia, ICF syndrome, Roberts syndrome, dominantly inherited--PCD, Werner syndrome, xeroderma pigmentosum, Cockayne syndrome, trichothiodystrophy (TTD) and Rothmund-Thomson syndrome (RTS)."
8.	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. "
9.	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. "
10.	mosaic trisomy Chromosome 8IBA 06/01/2002 - "We report a case of Rothmund-Thomson syndrome associated with a trisomy 8 mosaicism, and RECQ4 gene mutation. " 06/01/2002 - "[Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation]." 04/01/1990 - "This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. " 04/01/1990 - "Rothmund-Thomson syndrome associated with trisomy 8 mosaicism."

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."
2.	Excimer Lasers 01/01/2000 - "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. "
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."
4.	Radiotherapy 08/01/2004 - "We describe a male patient with Rothmund-Thomson syndrome (RTS) given postoperative radiotherapy for squamous carcinoma of the tongue. "
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."