| Written | 1998-10 | Lidia Larizza |
| University of Milan, Medical Faculty, Department of Biology, Genetics for Medical Sciences, via Viotti 5, 20133-Milan, Italy | ||
| Updated | 2001-10 | Alessandro Beghini, Lidia Larizza |
| University of Milan, Medical Faculty, Department of Biology, Genetics for Medical Sciences, via Viotti 5, 20133-Milan, Italy |
| Identity |
| Other names | Poikiloderma atrophicans and cataract |
| Atlas_Id | 10021 |
| Genes implicated in | RECQL4 |
| Note | is a chromosomal instability syndrome with an increased risk of cancers |
| Inheritance | autosomal recessive; rare geno-dermatosis with increased frequency in females; 260 cases reported in the English medical literature. |
| Clinics |
| Note | clinical expression highly variable |
| Phenotype and clinics | - growth retardation - skin defects appearing within the first year of life (90%) and persisting throuhout life: atrophic dermatosis, poikiloderma, hyperpigmentation, teleangiectasia - sparse hair which may progress to partial or total alopecia; dystrophic nails - photosensitivity - congenital skeletal defects - hypoplasia or absence of the radii and thumbs, osteopenia, cystic or sclerotic changes of the long bones - (>50%); bone age lower than chronological age. PHENOTYPE_AND_CLINICS - juvenile cataract, corneal dystrophy (50%) - hypodontia - hypogonadism (25%) - proportionate short stature - premature aging - Werner syndrome, - Dyskeratosis congenita, - Cockayne syndrome, - Bloom syndrome, - Fanconi anaemia, - Anhidrotic ectodermal dysplasia. |
 | |
| Neoplastic risk | |
| Treatment | only protection against sunlight is possible by means of sunscreens with both UVA and UVB protection; dermatologic therapies; surgical correction of skeletal malformations and cataracts; regular and careful work-up of signs and symptoms of both cutaneous and internal malignancy; caution is warranted in administering chemotherapy to affected individuals due to their sensitivity to chemotherapeutic agents |
| Evolution | the disease tends to progress during the first years of life, but becomes static so that patients may have a normal lifespan; the mortality from neoplastic disease during the second or third decade is very significantly increased. |
| Cytogenetics |
| Inborn conditions | Spontaneous/induced chromatid breaks were found increased in only a very few studies; In contrast with (mainly negative) chromatid results, consistent clonal/non clonal structural chromosomal abnormalities were evidenced in most studies, often involving chromosome 8, in cultured lymphocytes and in fibroblasts; low frequency trisomy 8 mosaicism has been reported in both lymphocyte and primary fibroblast cultures as well as in uncultured blood and buccal smears, indicating this characteristic chromosomal abnormality is present in vivo; a propensity to centromere misdivision with development of clones carrying isochromosomes, such as i(8q), i(8p), i(12p), i(12q) is peculiar of RTS. |
| Cytogenetics of cancer | marked chromosomal instability has been detected in mesenchymal tumours developed by RTS sibs |
| Other findings |
| Note | reduced unscheduled DNA synthesis, 37% of normal after exposure to ultraviolet C or gamma irradiation |
| Genes involved and Proteins |
| Note | Mutations of RECQL4 gene, a member of the RECQ helicase genefamily, have been identified in a limited number of RTS patients. Molecular testing is available on a research basis and useful in confirming the diagnosis in suspected RTS patients carrying RECQL4 mutations. |
| Bibliography |
| Clonal lines of aneuploid cells in Rothmund-Thomson syndrome. |
| Der Kaloustian VM, McGill JJ, Vekemans M, Kopelman HR |
| American journal of medical genetics. 1990 ; 37 (3) : 336-339. |
| PMID 2260560 |
| Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. |
| Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y |
| Nature genetics. 1999 ; 22 (1) : 82-84. |
| PMID 10319867 |
| Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism. |
| Lindor NM, Devries EM, Michels VV, Schad CR, Jalal SM, Donovan KM, Smithson WA, Kvols LK, Thibodeau SN, Dewald GW |
| Clinical genetics. 1996 ; 49 (3) : 124-129. |
| PMID 8737976 |
| Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. |
| Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S |
| American journal of medical genetics. 2000 ; 90 (3) : 223-228. |
| PMID 10678659 |
| Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome. |
| Miozzo M, Castorina P, Riva P, Dalprà L, Fuhrman Conti AM, Volpi L, Hoe TS, Khoo A, Wiegant J, Rosenberg C, Larizza L |
| International journal of cancer. Journal international du cancer. 1998 ; 77 (4) : 504-510. |
| PMID 9679749 |
| Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome. |
| Orstavik KH, McFadden N, Hagelsteen J, Ormerod E, van der Hagen CB |
| Journal of medical genetics. 1994 ; 31 (7) : 570-572. |
| PMID 7966195 |
| A case of Rothmund-Thomson syndrome with reduced DNA repair capacity. |
| Shinya A, Nishigori C, Moriwaki S, Takebe H, Kubota M, Ogino A, Imamura S |
| Archives of dermatology. 1993 ; 129 (3) : 332-336. |
| PMID 8447670 |
| Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund Thomson syndrome patients. |
| Smith PJ, Paterson MC |
| Mutation research. 1982 ; 94 (1) : 213-228. |
| PMID 7099192 |
| Rothmund-Thomson syndrome: review of the world literature. |
| Vennos EM, Collins M, James WD |
| Journal of the American Academy of Dermatology. 1992 ; 27 (5 Pt 1) : 750-762. |
| PMID 1430398 |
| Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. |
| Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Plon SE |
| American journal of medical genetics. 2001 ; 102 (1) : 11-17. |
| PMID 11471165 |
| Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. |
| Ying KL, Oizumi J, Curry CJ |
| Journal of medical genetics. 1990 ; 27 (4) : 258-260. |
| PMID 2325107 |
| DNA helicases, genomic instability, and human genetic disease. |
| van Brabant AJ, Stan R, Ellis NA |
| Annual review of genomics and human genetics. 2000 ; 1 : 409-459. |
| PMID 11701636 |
| Citation |
| This paper should be referenced as such : |
| Beghini, A ; Larizza, L |
| Rothmund-Thomson syndrome (RTS) |
| Atlas Genet Cytogenet Oncol Haematol. 2002;6(1):59-61. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Tumors/RothmundID10021.html |
| History of this paper: |
| Larizza, L. Rothmund-Thomson syndrome (RTS). Atlas Genet Cytogenet Oncol Haematol. 1999;3(1):50-51. |
| http://documents.irevues.inist.fr/bitstream/handle/2042/37497/10-1998-RothmundID10021.pdf |
| External links |
| OMIM | 268400 |
| Orphanet | Rothmund-Thomson syndrome |
| MeSH | D011038 |
| MedGen | D011038 |
| UMLS | C0032339 |
| ICD-10 | Q82.8 |
| Other database | Rothmund Thomson Syndrome - NORD |
| Other database | Rothmund-Thomson Syndrome - GeneClinics |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:24:35 CEST 2017 |
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