Rothmund-Thomson症候群
WordNet
- United States electrical engineer (born in England) who in 1892 formed a company with Thomas Edison (1853-1937) (同)Elihu Thomson
- English physicist (son of Joseph John Thomson) who was a co-discoverer of the diffraction of electrons by crystals (1892-1975) (同)George Paget Thomson, Sir George Paget Thomson
- English physicist who experimented with the conduction of electricity through gases and who discovered the electron and determined its charge and mass (1856-1940) (同)Joseph John Thomson, Sir Joseph John Thomson
- United States composer who collaborated with Gertrude Stein (1896-1989) (同)Virgil Thomson, Virgil Garnett Thomson
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/12/05 21:50:02」(JST)
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| Rothmund-Thomson syndrome |
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Panel showing some clinical features of the RTS syndrome. A) Chronic phase of cheek poikiloderma (4-year-old girl). B) Poikiloderma with alopecia (21-year-old boy). C) Poikiloderma. D) Poikiloderma sparing the trunk (courtesy of Professor M. Paradisi, Rome). E) Photo distributed poikiloderma and valgism of the knees. F) Thumb aplasia (patient B). G) Bone defect seen by X-Rays: cystic-like destructive lesion of the humerus (distal epiphysis) without apparent solution of continuity of the cortical bone (patient E).
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| Classification and external resources |
| Specialty |
medical genetics |
| ICD-10 |
Q82.8 (ILDS Q82.852) |
| ICD-9-CM |
757.33 |
| OMIM |
268400 |
| DiseasesDB |
29891 |
| eMedicine |
derm/379 |
| MeSH |
D011038 |
Rothmund–Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma congenitale,[1][2] is a rare autosomal recessive[3][4] skin condition originally described by August von Rothmund (1830–1906) in 1868. Matthew Sydney Thomson (1894–1969) published further descriptions in 1936.[5]
There have been several reported cases associated with osteosarcoma. A hereditary genetic basis, mutations in the DNA Helicase RECQL4 gene, causing problems during initiation of DNA replication has been implicated in the syndrome [1][6][7][8]
Contents
- 1 Characteristics
- 2 Cause and Genetics
- 3 See also
- 4 References
- 5 External links
Characteristics
- Sun-sensitive rash with prominent poikiloderma and telangiectasias
- Juvenile cataracts
- Saddle nose
- Congenital bone defects, including short stature and radial ray anomalies such as absent thumbs
- Hair growth problems (absent eyelashes, eyebrows and/or hair)
- Hypogonadism has not been well documented
- Hypodontia
- Calcium problems (not documented in journals)
- Ear problems (not documented in journals but identified by patients in support groups)
- Produces Osteosarcoma[9]
The skin is normal at birth. Between 3 to 6 months of age, the affected carrier develops poikiloderma on the cheeks. This characteristic “rash” that all RTS carriers have can develop on the arms, legs and buttocks. “Poikiloderma consists of areas of increased and decreased pigmentation, prominent blood vessels, and thinning of the skin”[10]
Cause and Genetics
Rothmund–Thomson syndrome has an autosomal recessive pattern of inheritance.
RTS is caused by a mutation of the RECQL4 gene, located at chromosome 8q24.3.[6][11] The disorder is inherited in an autosomal recessive manner.[3] This means the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
See also
- Poikiloderma vasculare atrophicans
- List of cutaneous conditions
- List of radiographic findings associated with cutaneous conditions
References
- ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 268400
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 576. ISBN 0-7216-2921-0.
- ^ a b Larizza, L.; Roversi, G.; Volpi, L. (Jan 2010). "Rothmund-Thomson syndrome". Orphanet Journal of Rare Diseases (Free full text) 5: 2. doi:10.1186/1750-1172-5-2. PMC 2826297. PMID 20113479.
- ^ Raza N, Malik QU, Hussain Z (2007). "Rothmund-Thomson syndrome: more than just a cosmetic concern". J Coll Physicians Surg Pak. 17 (7): 423–424. PMID 17686357.
- ^ Thomson, MS. (Mar 1936). "Poikiloderma Congenitale: Two Cases for Diagnosis.". Proc R Soc Med 29 (5): 453–5. PMID 19990626.
- ^ a b Larizza L, Magnani I, Roversi G (January 2006). "Rothmund–Thomson syndrome and RECQL4 defect: Splitting and lumping". Cancer Letters 232 (1): 107–120. doi:10.1016/j.canlet.2005.07.042. PMID 16271439.
- ^ Hicks MJ, Roth JR, Kozinetz CA, Wang LL (2007). "Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome". J. Clin. Oncol. 25 (4): 370–5. doi:10.1200/JCO.2006.08.4558. PMID 17264332.
- ^ Sangrithi MN, Bernal JA, Madine M, Philpott A, Lee J, Dunphy WG, Venkitaraman AR (Jun 2005). "Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome". Cell 121 (6): 887–98. doi:10.1016/j.cell.2005.05.015. PMID 15960976.
- ^ Wang LL, Levy ML, Lewis RA, et al. (2001). "Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients". Am. J. Med. Genet. 102 (1): 11–17. doi:10.1002/1096-8628(20010722)102:1<11::AID-AJMG1413>3.0.CO;2-A. PMID 11471165.
- ^ Understanding RTS pamphlet, RTS Team: Lisa L. Wang (Oncologist), Moise L. Levy (dermatologist), Richard A. Lewis (Ophtalmologist), Sharon E. Plon (Geneticist)
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 603780
External links
- Rothmund-Thomson on PFOND - web-based service to promote the sharing of information about research, treatment and resources for rare genetic disorders.
- GeneReviews/NCBI/NIH/UW entry on Rothmund-Thomson Syndrome
- Poikiloderma of Rothmund-Thomson at NIH's Office of Rare Diseases
- RTSPlace.org
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Metabolic disease: DNA replication and DNA repair-deficiency disorder
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| DNA replication |
- Separation/initiation: RNASEH2A
- Aicardi–Goutières syndrome 4
- Termination/telomerase: DKC1
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| DNA repair |
| Nucleotide excision repair |
- Cockayne syndrome/DeSanctis–Cacchione syndrome
- Thymine dimer
- IBIDS syndrome
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| MSI/DNA mismatch repair |
- Hereditary nonpolyposis colorectal cancer
- Muir–Torre syndrome
- Mismatch repair cancer syndrome
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| MRN complex |
- Ataxia telangiectasia
- Nijmegen breakage syndrome
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| Other |
- RecQ helicase
- Bloom syndrome
- Werner syndrome
- Rothmund–Thomson syndrome/Rapadilino syndrome
- Fanconi anemia
- Li-Fraumeni syndrome
- Severe combined immunodeficiency
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Index of genetics
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| Description |
- Gene expression
- DNA
- replication
- cycle
- recombination
- repair
- binding proteins
- Transcription
- factors
- regulators
- nucleic acids
- RNA
- RNA binding proteins
- ribonucleoproteins
- repeated sequence
- modification
- Translation
- ribosome
- modification
- nexins
- Proteins
- domains
- Structure
- primary
- secondary
- tertiary
- quaternary
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| Disease |
- Replication and repair
- Transcription factor
- Transcription
- Translation
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Progeroid syndromes
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| DNA repair |
| RecQ-associated |
- Werner syndrome
- Bloom syndrome
- Rothmund–Thomson syndrome
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| NER protein-associated |
- Cockayne syndrome
- Xeroderma pigmentosum
- Trichothiodystrophy
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| Lamin A/C |
- Hutchinson–Gilford progeria syndrome
- Restrictive dermopathy
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| Other/Related disorders |
- Li–Fraumeni syndrome
- Rapadilino syndrome
- Baller-Gerold syndrome
- DeSanctis–Cacchione syndrome
- Nijmegen breakage syndrome
- Fanconi anemia
- Dyskeratosis congenita
- Ataxia telangiectasia
- De Barsy syndrome
- PIBI(D)S syndrome
- BIDS syndrome
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See also: DNA replication and repair-deficiency disorder
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UpToDate Contents
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English Journal
- Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis.
- Polese L, Merigliano S, Mungo B, Pennelli G, Norberto L.SourceDepartment of Surgical and Gastroenterological Sciences Department of Medical Diagnostic Sciences and Special Therapies, Pathology Unit, University of Padova, Padova, Italy.
- Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus / I.S.D.E.Dis Esophagus.2011 Nov;24(8):E41-4. doi: 10.1111/j.1442-2050.2011.01260.x. Epub 2011 Sep 23.
- Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. While its incidence is unknown, approximately 300 cases have been reported in the literature. The syndrome typically presents with a characteristic facial rash (poikiloderma), its diagnostic hallmark, and heterogeneous cli
- PMID 21951866
- RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance.
- Ghosh AK, Rossi ML, Singh DK, Dunn C, Ramamoorthy M, Croteau DL, Liu Y, Bohr VA.SourceNIA, NIH, United States;
- The Journal of biological chemistry.J Biol Chem.2011 Oct 28. [Epub ahead of print]
- Telomeres are structures at the ends of the chromosomes composed of long tracts of short tandem repeat DNA sequences and telomere specific DNA binding proteins (shelterin). Telomeric DNA is prone to form G-quadruplex and D-loop structures and presents a challenge to the DNA replication and repair ma
- PMID 22039056
Japanese Journal
- DNA Helicase Activity in Purified Human RECQL4 Protein
- SUZUKI Takahiro,KOHNO Toshiyuki,ISHIMI Yukio
- The journal of biochemistry 146(3), 327-335, 2009-09-01
- NAID 10026303147
- Effects of Estrogenic Agents 17β-Estradiol (E2) and Bisphenol A on the Expression of RecQ DNA Helicases in Mammary Tumor MCF-7 Cells
- ISO Takako,Futami Kazunobu,Iwamoto Teruaki,Furuichi Yasuhiro
- Journal of health science 55(1), 119-124, 2009-02-01
- … This study investigated if the expressions of RecQ helicases Werner syndrome helicase (WRN), Rothmund-Thomson syndrome helicase (RTS), RecQ5 helicase (RecQ5), RecQ protein-like 1 helicase (RecQL1, also known as RecQ1) and BLM helicase are affected in MCF-7 cells by treatment with estrogenic agents. …
- NAID 110007055916
Related Links
- Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile ...
- Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin. People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over ...
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