This characteristic "rash" that all RTS carriers have can develop on the arms, legs and buttocks.

"Poikiloderma consists of areas of increased and decreased pigmentation, prominent blood vessels, and thinning of the skin.

"[9] In humans, individuals with RTS, and carrying the RECQL4 germline mutation, can have several clinical features of accelerated aging.

These features include atrophic skin and pigment changes, alopecia, osteopenia, cataracts and an increased incidence of cancer.

[citation needed] RECQL4 has a crucial role in DNA end resection that is the initial step required for homologous recombination (HR)-dependent double-strand break repair.