Advances in Pseudoxanthoma Elasticum / 罕见病研究

ABSTRACT

Pseudoxanthoma elasticum(PXE) is a rare, genetic, metabolic disease characterized by ectopic calcification of connective tissue that primarily affects the skin, retina and cardiovascular system, which characteristic histopathology is calcification and fragmentation of elastic fibers in dermis.PXE is mainly caused by ABCC6 gene mutation, which is one of the important regulators of the serum inorganic pyrophosphate (PPi) homoeostasis, a main inhibitor of ectopic calcification and the deficiency of PPi can lead to ectopic calcification. The clinical features are highly heterogeneous.Typical skin lesions of PXE are yellowish flat papules and plaques, and the symptoms of skin relaxation and shrinkage can be manifested in the later stage.Retina, cardiovascular and other complications seriously affect the health and quality of life of patients. The current therapy of PXE include symptom improvement, systemic anti-ectopic calcification medicine, gene therapy and so on.We review the pathogenesis, clinical manifestations, diagnosis and treatment of PXE.