Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings

RTS: Rothmund-Thomson syndrome INTRODUCTION Rothmund-Thomson syndrome (RTS) (OMIM #268400) is a rare autosomal recessive disorder characterized by erythema, blisters, and swelling that appears during infancy on the cheeks, spreads to the extremities, and eventually leads to poikiloderma. Additionally, a large percentage of patients have short stature and skeletal abnormalities, and some patients have hair, eyebrow, eye, and gastrointestinal problems. Osteosarcoma is reported in 30% of the patients. The RECQL4 gene (OMIM *603780) on 8q24.3 encoding adenosine triphosphateedependent DNA helicase Q4 is causative of RTS. It is involved in DNA repair and is associated with increased cancer risk, but its biological function is not fully understood.We report a rare case of RTS with predominantly cutaneous symptoms and 2 novel compound heterozygous variants in the RECQL4 gene.