Classic pseudoxanthoma elasticum in a girl with sickle cell disease

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 d...

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Published inPediatric dermatology Vol. 36; no. 1; pp. e64 - e65
Main Authors Mitre, Victoria, Brown, Danielle, Phung, Thuy, Hunt, Raegan D.
Format Journal Article
LanguageEnglish
Published United States Wiley Subscription Services, Inc 01.01.2019
Subjects
ABCC6 mutation
Case reports
Mutation
Pediatrics
Phenotypes
pseudoxanthoma elasticum
PXE‐like phenotype
Sickle cell disease
Skin diseases
Thalassemia
ABCC6 mutation
PXE-like phenotype
pseudoxanthoma elasticum
sickle cell disease
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ISSN:0736-8046
1525-1470
DOI:10.1111/pde.13712