Rothmund-Thomson syndrome

Dermatol Clin. 1995 Jan;13(1):143-50.


Rothmund-Thomson syndrome is a rare inherited disorder characterized by poikilodermatous skin changes that appear in infancy. The inheritance is autosomal recessive. Patients exhibit variable features including skeletal abnormalities, juvenile cataracts, and a higher-than-expected incidence of malignancy. This article describes aspects of the inheritance, the incidence of characteristic features, and the malignant potential of Rothmund-Thomson syndrome. Insight into its origin is provided through a review of the clinical signs and symptoms, the in vitro studies of endocrine function, and the reported DNA repair abnormalities.

Publication types

  • Review

MeSH terms

  • Adult
  • Bone Neoplasms / pathology
  • Bone and Bones / abnormalities
  • Cataract / pathology
  • Child, Preschool
  • DNA Repair
  • Endocrine Glands / physiopathology
  • Female
  • Humans
  • Infant
  • Male
  • Osteosarcoma / pathology
  • Precancerous Conditions / pathology*
  • Rothmund-Thomson Syndrome / genetics*
  • Rothmund-Thomson Syndrome / pathology
  • Rothmund-Thomson Syndrome / physiopathology
  • Skin Neoplasms / pathology