Rothmund-Thomson Syndrome

Updated: Mar 30, 2016
  • Author: Sylvia Hsu, MD; Chief Editor: Dirk M Elston, MD  more...
  • Print


Rothmund-Thomson syndrome, or poikiloderma congenitale, is a rare autosomal recessive disorder attributed to mutations of the RECQL4 helicase gene on 8q24. [1, 2, 3] Key features include early photosensitivity and poikilodermatous skin changes, juvenile cataracts, skeletal dysplasias, and a predisposition to osteosarcoma and skin cancer. [4, 5]




Approximately 300 cases of Rothmund-Thomson syndrome (poikiloderma congenitale) have been reported in the scientific literature worldwide.


Whether Rothmund-Thomson syndrome (poikiloderma congenitale) has a predilection for one sex over the other is unclear. An equal female-to-male ratio, a female predominance (1.4:1), and a male predominance (2:1) have all been reported in various case series.


More than 90% of patients with Rothmund-Thomson syndrome (poikiloderma congenitale) develop the initial skin manifestations during the first year of life, usually from age 3-6 months. Rarely, the skin changes may be present at birth, or they may appear as late as age 2 years.