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Rothmund-Thomson syndrome

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Title: Rothmund-Thomson syndrome  
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Subject: Homologous recombination, Trisomy 8, DNA repair-deficiency disorder, Rapadilino syndrome
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Rothmund-Thomson syndrome

Rothmund-Thomson syndrome
Classification and external resources
10 Q82.8 (ILDS Q82.852)
ICD-9 OMIM DiseasesDB eMedicine 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.

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.[1][5][6]


  • 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)
  • Osteosarcoma[7]

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”[8]

Cause and Genetics

RTS is caused by a mutation of the RECQL4 gene, located at chromosome 8q24.3.[5][9] 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


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
  • Rare Diseases

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