The scope of health insurance coverage of vitiligo treatments in the United States: Implications for health care outcomes and disparities in children of color.

Background: Patients of color are disproportionately impacted by vitiligo. Access to treatment depends greatly on insurance coverage. We, therefore, assessed current vitiligo treatment coverage policies across major United States health insurers to determine current patterns and coverage gaps for vitiligo.

PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS.

Introduction: Pseudoxanthoma elasticum (PXE), a multisystem orphan disease, clinically affects the skin, the eyes, and the cardiovascular system with considerable morbidity and mortality. The clinical manifestations reflect the underlying pathology consisting of ectopic mineralization of peripheral connective tissues.

Areas Covered: The diagnostic criteria of PXE include characteristic clinical findings, together with histopathology of accumulation of pleiomorphic elastic structures in the dermis with progressive mineralization, and the presence of mutations in the gene.

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.

Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder characterized by ocular, cutaneous and cardiovascular manifestations. It is caused by mutations in the ABCC6 gene (chr. 16p13.

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

Background: Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder with considerable phenotypic variability, mainly affects the eyes, skin and cardiovascular system, characterised by dystrophic mineralization of connective tissues. It is caused by mutations in the ABCC6 (ATP binding cassette family C member 6) gene, which encodes MRP6 (multidrug resistance-associated protein 6).

Objective: To investigate the mutation spectrum of ABCC6 and possible genotype-phenotype correlations.

Development of a rapid, reliable genetic test for pseudoxanthoma elasticum.

Mutations in the human ABCC6 gene cause pseudoxanthoma elasticum (PXE), a hereditary disorder that impacts the skin, eyes, and cardiovascular system. Currently, the diagnosis of PXE is based on physical findings and histological examination of a biopsy of affected skin. We have combined two simple, polymerase chain reaction (PCR)-based methods to develop a rapid, reliable genetic assay for the majority of known PXE mutations.

Advocacy groups as research organizations: the PXE International example.

Advocacy organizations for genetic diseases are increasingly becoming involved in biomedical research, particularly translational research, in order to meet the needs of the individuals that they serve. PXE International, an advocacy organization for the disease pseudoxanthoma elasticum, provides an example of how research can be accelerated by these groups. It has adopted methods that were pioneered by other advocacy organizations, and has integrated these along with new approaches into franchizable elements.

Testicular microlithiasis in association with pseudoxanthoma elasticum.

Purpose: To determine the presence of testicular microlithiasis in male subjects with pseudoxanthoma elasticum (PXE).

Materials And Methods: Institutional review board approval was obtained for the prospective and retrospective components of this HIPAA-compliant study. Informed consent was obtained from all patients or their parents.