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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, causing problems during initiation of DNA replication has been implicated in the syndrome 〔 ==Characteristics== *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) *Produces Osteosarcoma 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”〔Understanding RTS pamphlet, RTS Team: Lisa L. Wang (Oncologist), Moise L. Levy (dermatologist), Richard A. Lewis (Ophtalmologist), Sharon E. Plon (Geneticist)〕 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Rothmund–Thomson syndrome」の詳細全文を読む スポンサード リンク
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