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Rothmund - thomson syndrome associated with myelodysplastic syndrome: a case report

Authors:Jagadisha S, Gayathri Devi, Sarala Sabapathy
Int J Biol Med Res. 2015; 6(4): 5285-5286  |  PDF File


Abstract: Rothmund-Thomson syndrome (RTS) is a rare genodermatoses inherited by autosomal recessive mode. Though data on prevalence of RTS is not available around 300 cases been reported worldwide. RTS mainly manifests with abnormalities in skin, skeleton and eyes. Hematological abnormalities ranging from anemia to leukemia have been reported in few cases. Myelodysplatic syndrome(MDS) presents as acquired pancytopenia caused by bone marrow infiltration. We report such a rare association of MDS in RTS.