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USMLE Step 2CK

USMLE Step 2CK's Questions

Medical Guru

Medical Guru

February 16 2015

Syndrome

Bloom's syndrome

Medical Guru
Medical Guru
February 16 2015 #

Also known as congenital telangiectatic erthema - is a rare autosomal recessive disorder. It is common in the Ashkenazi Jews.

Mutation and DNA damage due to UV rays and radiation may also lead to signs and symptoms. 

Clinical picture: 

  • Growth retardation
  • Immunodeficiency
  • Recurrent URI and GI infections
  • Telangiectatic erythema
  • Infertility
  • Predisposition to malignancies (lymphoma, leukemias, SCC etc)

Treatment: symptomatic