Rothmund-Thomson syndrome

Disease Overview

Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin, eyes, bones, and teeth. Signs and symptoms can include a characteristic facial rash (poikiloderma); sparse hair, eyelashes, and/or eyebrows; short stature; skeletal (bone) and dental abnormalities; cataracts; premature aging; and an increased risk for cancer, especially osteosarcoma.[10884][10885] Gastrointestinal problems or blood disorders may also occur.[10884] It is inherited in an autosomal recessive manner and most often caused by changes (mutations) in the RECQL4 gene. In some cases, the genetic cause is unknown.[10886] Treatment focuses on the specific signs and symptoms present and may include laser treatment for skin abnormalities; surgery for cataracts; and standard treatment for cancer.[10884]

Synonyms

• RTS
• Poikiloderma of Rothmund-Thomson
• Poikiloderma atrophicans and cataract
• Poikiloderma Congenitale