Rothmund-Thomson Syndrome

  • AKA Poikiloderma congenitale
  • AR, RECQL4 (DNA helicase)
  • Erythema, edema and blisters that begin on the cheeks, progress to poikiloderma including photoprotected sites
  • Premalignant acral keratoses
  • Hypoplastic thumbs/radii/ulnae
  • Normal intelligence
  • Other: alopecia of scalp/lashes/brows, dystrophic nails, micrognathia; juvenile cataracts; dental anomalies; hypogonadism, short stature
  • Malignancy may lead to premature death
    • Osteosarcoma (mean onset = 14 years of age) in ~30% patients
    • Non-melanoma skin cancer