Rothmund–Thomson Syndrome with Predominant Cutaneous Features: A Rare Case Report of Two Male Siblings

Rothmund–Thomson syndrome (RTS) is a rare genodermatosis with only 300 cases reported till date. It manifests a wide array of symptoms affecting skin and skin appendages. It is attributed to mutation of the RECQL4 helicase gene, located on chromosome 8q24.3. The RECQL4 protein is essential for the initiation of DNA replication and is necessary for the efficient removal of ultraviolet-induced DNA damage. Key features include early photosensitivity, poikilodermatous skin change, juvenile cataracts, skeletal dysplasias, predisposition to osteosarcoma, and skin cancers. Here, we present a rare case report of RTS in two male siblings with predominant cutaneous manifestations.