Rothmund-Thomson Syndrome Type 2 – A Rare Cause of Chronic Wounds

In 2019, a clinical letter described the case of a 52-year-old male patient with Rothmund-Thomson syndrome type 2 (RTS2), a rare genodermatosis, presenting with chronic, poorly healing wounds on his feet, which he had experienced for 17 years. The patient, who also had type 2 diabetes and a history of bilateral cataract surgery, exhibited physical signs such as mild poikiloderma, atrophic skin with reduced subcutaneous fat, partial sclerosis, minimal body hair, and stage VII androgenetic alopecia. Genetic testing had confirmed RTS2, which is caused by a mutation in the RECQL4 gene leading to dysfunctional DNA helicase and a variety of symptoms. The patient's condition was managed with symptomatic treatments due to the genetic nature of RTS2, including physical therapy, laser treatment, cataract surgery, orthopedic footwear, skin care, and UV protection. The case highlighted the association of RTS2 with chronic wounds on atrophic and sclerotic skin and emphasized the importance of considering RTS in the differential diagnosis of chronic wounds, particularly in patients with poikiloderma.