Bloom Syndrome

  • Etiology:
    • Mutations in the BLM gene → deficient helicase enzyme
    • AR, BLM (RecQL DNA helicase)
      • Mutation results in spontaneous sister chromatid exchanges, breakage and rearrangements
  • Clinical features
    • Short stature (<5ft), hypogonadism, bird like nose
    • Photodistributed erythema/telangiectasias over cheeks within first few weeks of life
    • Short stature
    • Skin rash (butterfly shaped on nose and cheeks, photosensitive), teleangiectasia of hands and arms, cafe-au-lait spots
    • Increased risk of cancer (e.g., leukemia)
    • Normal intelligence
    • Immune deficiency: low IgM/IgA
      • Respiratory/GI infections
    • High pitched voice
  • Increased risk of cancer: leukemia/lymphoma, GI adenocarcinoma