Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0019045 (
hemoglobinopathies
)
2,704
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Classic pseudoxanthoma elasticum in a girl with sickle cell disease. 3053 62
