Rothmund-Thomson syndrome with myelodysplasia

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that is caused by a DNA repair defect. It is characterized mainly by skin, eye, and skeletal abnormalities. Cutaneous changes appear at between 3 and 6 months of age and include poikiloderma, photosensitivity, scaling, hyperkeratosis, and disturbance of hair growth. Other abnormalities include cataracts, congenital bone defects, soft tissue contractures, and osteogenesis imperfecta. Various malignancies have been reported in association with RTS, including osteosarcoma, fibrosarcoma, and nonmelanoma skin cancers. The myelodysplastic syndromes are a group of hematologic disorders defined by morphologic abnormalities of the three cell lines. The pathogenesis of myelodysplasia is a multistep process that begins with a somatic mutation in the pluripotential 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 in patients with RTS.