Elastic Pseudoxanthoma in Childhood

Abstract

The article describes a case of an orphan childhood disease with multisystem lesions of elastic skin tissue, blood vessels and the retina. The author reviews epidemiological data, describes a pathomorphological pattern of elastic fiber lesions, and examines the pathogenesis, as well as various clinical progression and differential diagnostic search options. The algorithm for the diagnostic examination of patients with elastic pseudoxanthoma is provided. Current approaches for treating this disease are described.

Keywords

• children
• elastic pseudoxanthoma
• gronblad–strandberg syndrome
• calcification
• angioid streaks
• abcc6 gene
• treatment
• phosphate binding agents