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Thursday, May 21, 2009

Rothmund-Thomson syndrome

Rothmund-Thomson Syndrome is a rare autosomal recessive 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.

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


Key features

  • Abnormal rash termed poikiloderma skin pigmentation
  • Telangiectasia
  • Juvenile cataracts
  • Saddle nose
  • Congenital bone defects, particularly radial ray anomalies and short stature
  • 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


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