先天性多形皮膚萎縮症
WordNet
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
PrepTutorEJDIC
- (病気・身体的欠陥など)生まれつきの,先天的な
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/11/29 03:25:03」(JST)
[Wiki en表示]
Rothmund-Thomson syndrome |
Classification and external resources |
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).
|
ICD-10 |
Q82.8 (ILDS Q82.852) |
ICD-9 |
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. edit
- ^ 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. edit
- ^ 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
Metabolic disease: DNA replication and DNA repair-deficiency disorder
|
|
DNA replication |
- Separation/initiation: RNASEH2A
- Aicardi–Goutières syndrome 4
- Termination/telomerase: DKC1
|
|
DNA repair |
Nucleotide excision repair |
- Cockayne syndrome/DeSanctis–Cacchione syndrome
- Thymine dimer
- IBIDS syndrome
|
|
MSI/DNA mismatch repair |
- Hereditary nonpolyposis colorectal cancer
- Muir–Torre syndrome
- Mismatch repair cancer syndrome
|
|
MRN complex |
- Ataxia telangiectasia
- Nijmegen breakage syndrome
|
|
Other |
- RecQ helicase
- Bloom syndrome
- Werner syndrome
- Rothmund–Thomson syndrome/Rapadilino syndrome
- Fanconi anemia
- Li-Fraumeni syndrome
- Severe combined immunodeficiency
|
|
|
See also: DNA replication, DNA repair
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
Progeroid syndromes
|
|
DNA repair |
RecQ-associated |
- Werner syndrome
- Bloom syndrome
- Rothmund–Thomson syndrome
|
|
NER protein-associated |
- Cockayne syndrome
- Xeroderma pigmentosum
- Trichothiodystrophy
|
|
|
Lamin A/C |
- Hutchinson–Gilford progeria syndrome
- Restrictive dermopathy
|
|
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
|
|
See also: DNA replication and repair-deficiency disorder
|
|
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- Rothmund-Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation.
- López-Lera A1, M Torres-Canizales J2, Garrido S1, Morales A3, López-Trascasa M1.
- The Journal of investigative dermatology.J Invest Dermatol.2014 Apr;134(4):1152-4. doi: 10.1038/jid.2013.444. Epub 2013 Oct 24.
- PMID 24157463
- Arora H1, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J.Author information 1Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL, USA.AbstractBloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.
- International journal of dermatology.Int J Dermatol.2014 Mar 6. doi: 10.1111/ijd.12408. [Epub ahead of print]
- Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instabilit
- PMID 24602044
- Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
- Piard J1, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, Didonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C.Author information 1EA 4271 GAD "Génétique des Anomalies du Développement", IFR Santé STIC, Université de Bourgogne, Dijon, France; Centre de Génétique Humaine, CHU Besançon, Besançon, France.AbstractThree overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio-type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype. One chromosomal abnormality and one TWIST mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of RECQL4 sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next-generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as BGS without poikiloderma.
- Clinical genetics.Clin Genet.2014 Feb 14. doi: 10.1111/cge.12361. [Epub ahead of print]
- Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4
- PMID 24635570
Japanese Journal
- Poikiloderma congenitale ; case report and review of the literature
- Rothmund-Thomson症候群(Poikiloderma congenitale)の組織学的所見--特にPAS陽性物質について
Related Links
- poikiloderma congenitale poikiloderma of Civatte Poikiloderma with Neutropenia poikilonymy poikilophitic Poikilosmotic Animal poikilospherocyte poikilotherm poikilotherm poikilotherm poikilotherm Poikilothermal Poikilothermal ...
- [Show abstract] [Hide abstract] ABSTRACT: Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent ...
★リンクテーブル★
[★]
- 英
- Rothmund-Thomson syndrome
- 同
- 先天性多形皮膚萎縮症 poikiloderma congenitale
[★]
- ラ
- poikiloderma congenitale
- 関
- ロトムンド・トムソン症候群
[★]
- 関
- congenital、congenitally
[★]
[★]
- poikil + derma
多形皮膚萎縮症