Rothmund–Thomson syndrome

Rothmund–Thomson syndrome
Other namesPoikiloderma atrophicans with cataract or Poikiloderma congenitale[1][2]
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).
SpecialtyMedical genetics 

Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive[3][4] skin condition.

There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase RECQL4 gene, causing problems during initiation of DNA replication has been implicated in the syndrome.[1][5][6][7]

  1. ^ a b Online Mendelian Inheritance in Man (OMIM): 268400
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 576. ISBN 978-0-7216-2921-6.
  3. ^ 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.
  4. ^ 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.
  5. ^ Cite error: The named reference req was invoked but never defined (see the help page).
  6. ^ 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.
  7. ^ 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. S2CID 15064074.
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