Tags: Disease.
Rothmund–Thomson syndrome (RTS) also known as poikiloderma atrophicans with cataract or poikiloderma congenitale 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.
