rothmund thomson syndrome


Summary: 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.

Top Publications

  1. Siitonen H, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier Daire V, et al. The mutation spectrum in RECQL4 diseases. Eur J Hum Genet. 2009;17:151-8 pubmed publisher
    ..We also summarize all the published RECQL4 mutations and their associated cancer cases and provide an update of 14 novel RECQL4 mutations with accompanying clinical data. ..
  2. Xu X, Liu Y. Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4. EMBO J. 2009;28:568-77 pubmed publisher
    ..Taken together, our data provide the first biochemical clues underlying the molecular function of RECQ4 in DNA replication and genome maintenance. ..
  3. Volpi L, Roversi G, Colombo E, Leijsten N, Concolino D, Calabria A, et al. Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet. 2010;86:72-6 pubmed publisher
    ..The unravelled clinical and genetic identity of PN allows patients to undergo genetic testing and follow-up. ..
  4. Morihara K, Katoh N, Takenaka H, Kihara K, Morihara T, Kishimoto S. Granulomatous mycosis fungoides presenting as poikiloderma. Clin Exp Dermatol. 2009;34:718-20 pubmed publisher
    ..However, in other areas there were only findings of conventional MF without granuloma. Granulomatous MF may be associated with poikiloderma. ..
  5. Schurman S, Hedayati M, Wang Z, Singh D, Speina E, Zhang Y, et al. Direct and indirect roles of RECQL4 in modulating base excision repair capacity. Hum Mol Genet. 2009;18:3470-83 pubmed publisher
    ..The data herein support a model in which RECQL4 regulates both directly and indirectly base excision repair capacity. ..
  6. Kamenisch Y, Berneburg M. Progeroid syndromes and UV-induced oxidative DNA damage. J Investig Dermatol Symp Proc. 2009;14:8-14 pubmed publisher
    ..Journal of Investigative Dermatology Symposium Proceedings (2009) 14, 8-14; doi:10.1038/jidsymp.2009.6. ..
  7. Hughes R, Loftus B, Kirby B. Subacute cutaneous lupus erythematosus presenting as poikiloderma. Clin Exp Dermatol. 2009;34:e859-61 pubmed publisher
    ..There are currently only two case reports, comprising five individual cases, in the literature. We present a case of SCLE in which the main clinical findings were an extensive photodistributed poikilodermatous rash and alopecia. ..
  8. Liu Y. Rothmund-Thomson syndrome helicase, RECQ4: on the crossroad between DNA replication and repair. DNA Repair (Amst). 2010;9:325-30 pubmed publisher
    ..This review will summarize the clinical effect of RECQ4 in human health, and discuss the recent progress and debate in defining the complex molecular function of RECQ4 in DNA metabolism. ..
  9. Larizza L, Roversi G, Volpi L. Rothmund-Thomson syndrome. Orphanet J Rare Dis. 2010;5:2 pubmed publisher
    ..The sensitivity of RTS cells to genotoxic agents exploiting cells with a known RECQL4 status is being elucidated and is aimed at optimizing the chemotherapeutic regimen for osteosarcoma. ..

More Information


  1. Singh D, Karmakar P, Aamann M, Schurman S, May A, Croteau D, et al. The involvement of human RECQL4 in DNA double-strand break repair. Aging Cell. 2010;9:358-71 pubmed publisher
    ..These results suggest distinct cellular dynamics for RECQL4 protein at the site of laser-induced DSB and that it might play important roles in efficient repair of DSB's. ..
  2. Simon T, Kohlhase J, Wilhelm C, Kochanek M, De Carolis B, Berthold F. Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. Am J Med Genet A. 2010;152A:1575-9 pubmed publisher
    ..The most remarkable clinical features are young age, spontaneous remission of diffuse large cell lymphoma, and severe CNS and skin toxicity of cytotoxic treatment. ..
  3. Concolino D, Roversi G, Muzzi G, Sestito S, Colombo E, Volpi L, et al. Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. Am J Med Genet A. 2010;152A:2588-94 pubmed publisher
    ..In order to delineate the phenotype of this rare genodermatosis, the clinical presentation together with the molecular investigations in our patients are reported and compared to those from the literature. ..
  4. Debeljak M, Zver A, Jazbec J. A patient with Baller-Gerold syndrome and midline NK/T lymphoma. Am J Med Genet A. 2009;149A:755-9 pubmed publisher
    ..This case of a RECQL4-related disorder highlights the significant phenotypic overlap between the classically delineated RECQL4-associated syndromes and questions the need to redefine or combine these clinical entities. ..