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.

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
 * Osteosarcoma