A pseudoxanthoma elasticum (PXE)-like phenotype develops in a subset of patients with inherited hemoglobinopathies. Although PXE tissue changes are thought to develop in the absence of ABCC6 mutations in patients with beta-thalassemia, ABCC6 mutations have not been well evaluated among sickle cell disease patients with PXE-like disease. To our knowledge, we describe the first patient with sickle cell disease, PXE skin findings, and two confirmed pathogenic ABCC6 mutations. This case suggests that ABCC6 testing is warranted for sickle cell disease patients with the PXE-like phenotype and that the pathogenesis of PXE manifestations in beta-thalassemia and sickle cell disease may differ.
Keywords: ABCC6 mutation; PXE-like phenotype; pseudoxanthoma elasticum; sickle cell disease.
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