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Created with Fabric.js 1.4.5 RothmundThomson Syndrome Rothmund-Thomson Syndrome RTS was originally described in 1868 by the Germanophthalmologist Rothmund who observed poikiloderma,growth retardation and rapidly progressive bilateral juvenile cataracts in 10 children in a Bavarian village RTS is an autosomal recessivegenodermatosis presenting in infancy with a characteristic facial rash(poikiloderma), the diagnostic hallmark, and heterogeneous clinical features including short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows,juvenile cataracts, skeletal abnormalities, radial raydefects, premature agingand a predisposition to osteosarcoma, a malignant tumour originating in bone. The RECQL4 test is recommended for RTS cases that share clinical signs with syndromes usually considered in the differential diagnosis either because of dermatological abnormalitiesor because they belong to thegroup of DNA repair disorders with chromosomal instability. Diagnosis Treatment(Medical Care) Persons with Rothmund-Thomson syndrome should apply sunscreens with UVA and UVB coverage regularly. Additionally, keratolyticsand retinoids have been somewhat successful in treating the hyperkeratotic lesions. References: Hsu S., & Elston D., (2014). Rothmund-Thomson Syndrome. Retrieved from L.,Roversi G.,& Volpi L., (2010). Rothmund-Thomson syndrome.Retrieved from, A., & Larizza, L., (2002). Rothmund-Thomson syndrome (RTS)Atlas Genet Cytogenet Oncol Haematol.2002;6(1):59-61.[Untitled photograph of a baby having Rothmund-Thomson Syndrome].Retrieved November 30, 2014, from [Untitled photograph of a juvenile cataract]. Retrieved November 30, 2014, from[Untitled photograph of a sparse eyebrow]. Retrieved November 30, 2014, from[Untitled photograph of sparse hair on scalp]. Retrieved November 30, 2014, from[Untitled photograph of skeletal deformities]. Retrieved November 30, 2014, from[Untitled photograph of autosomal recessive pattern of inheritance]. Retrieved November 30, 2014, from
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