Comprehensive Review of Rothmund-Thomson Syndrome: Clinical Manifestations, Molecular Pathogenesis, and Therapeutic Approaches

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by a spectrum of clinical manifestations, including poikiloderma, sparse hair, short stature, skeletal abnormalities, and an increased predisposition to malignancies, particularly osteosarcoma. This syndrome is primarily associated with mutations in the RECQL4 gene, a critical player in DNA repair and genomic stability. This review provides an in-depth analysis of the clinical presentation, underlying molecular mechanisms, and current therapeutic strategies for RTS. We aim to elucidate the genetic and cellular pathways implicated in RTS, highlight the challenges in clinical management, and explore potential future directions in research and therapy.