Endocrine Abstracts

Rothmund-Thomson syndrome (RTS) usually presents with physical stigmata (poikiloderma, ectodermal dysplasia, juvenile cataracts…) and it´s associated with malignancies in patients with homozygous or compound heterozygous mutations in the RECQL4 helicase gene (RTS-II). Neoplasms include osteosarcoma in childhood and skin cancer later in life, with occasional malignancies affecting other tissues (leukemia, lymphoma and gastrointestinal adenocarcinomas). To ou...