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