Rothmund-Thomson syndrome

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Rothmund-Thomson syndrome
ICD-9 757.33
OMIM 268400
DiseasesDB 29891
eMedicine derm/379 
MeSH D011038

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Rothmund-Thomson Syndrome is a rare autosomal recessive[1] skin condition originally described by August von Rothmund (1830-1906) in 1868. Matthew Sydney Thomson (1894-1969) published further descriptions in 1936.

There have been several reported cases associated with osteosarcoma. A hereditary genetic basis, mutations in the DNA Helicase RECQL4 gene, has been implicated in the syndrome.[2][3]

Key features

Rothmund-Thomson syndrome has an autosomal recessive pattern of inheritance.

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References

  1. 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.
  2. Online Mendelian Inheritance in Man (OMIM) 268400
  3. Hicks, MJ. et al. Clinicopathologic Features of Osteosarcoma in Patients with Rothmund-Thomson Syndrome. Journal of Clinical Oncology 25(4): 370-375. 2007. PMID 17264332
  4. L.L. Wang, et al., 2001, Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients, Am J Med Genet. 102(1):11-7 PMID 11471165


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