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

SAGE Open Med Case Rep. 2019 Sep 16:7:2050313X19876710. doi: 10.1177/2050313X19876710. eCollection 2019.

Abstract

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.

Keywords: Case report; and developmental delay; lichen sclerosus; morphea; periodic fevers; sideroblastic anemia with B cell immunodeficiency.

Publication types

  • Case Reports