Abstract
Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair, eyelashes, and/or eyebrows, small stature, skeletal and dental abnormalities, cataracts and an increased risk of cancer, especially osteosarcoma. Authors describe a case of 35 year old man with poikiloderma, universal alopecia and anaplastic large T-cell lymphoma (ALCL).
The skin manifestation first appeared at age of 23 years of the patient. Diagnosis of RTS was based on the clinical manifestation and genetic examination, that showed RECQ4 mutations presented at multiple levels.
Sequencing of fibroblasts by Western blot analysis confirmed Gln253His mutation typical for RTS. Despite combined chemotherapy of ALCL the patient died 17 days after its initiation due to cardiac arrest.
RTS is a rare genodermatosis. Because of increased risk of skin cancer, follow-up of patients with RTS is mandatory