Rothmund-Thomson syndrome with myelodysplasia

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that is caused by a DMA repair defect. It is characterized mainly by skin, eye, and skeletal abnormalities. Cutaneous changes appear at between 3 and 6 mo nths of age and include poikiloderma, photosensitivity, scaling, hyperkerat osis, and disturbance of hair growth. Other abnormalities include cataracts , congenital bone defects, soft tissue contractures, and osteogenesis imper fecta, Various malignancies have been reported in association with RTS, inc luding osteosarcoma, fibrosarcoma, and nonmelanoma skin cancers. The myelod ysplastic syndromes are a group of hematologic disorders defined by morphol ogic abnormalities of the three cell lines. The pathogenesis of myelodyspla sia is a multistep process that begins with a somatic mutation in the pluri potential stem cell, which is irreversibly altered and acquires a survival advantage, Myelodysplasia in the young and RTS are both rare conditions. We report a patient with RTS and myelodysplasia. This is the second reported case of an association between these two conditions, which are both likely to be due to a common etiologic cause of nonrepair of stem cell DNA damage. Clinicians should be aware of the potential of this complication arising i n patients with RTS.