SAGE Open Medical Case Reports (Sep 2019)

Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features

  • Abdulhadi Jfri,
  • Therese El-Helou,
  • Kevin A. Watters,
  • Annie Bélisle,
  • Ivan V. Litvinov,
  • Elena Netchiporouk

DOI
https://doi.org/10.1177/2050313X19876710
Journal volume & issue
Vol. 7

Abstract

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This is a 40-year-old woman with sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay syndrome, who has genital and extragenital lichen sclerosus on the abdomen and the upper back that have become erythematous and painful during febrile episodes. This report summarizes the published cases of sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay and highlights associated mucocutaneous features.