Pseudoxanthoma Elasticum

Pseudo-xanthoma elasticum is a rare, inherited disease characterized by progressive calcification and fragmentation of elastic tissue in the skin, eyes and cardiovascular system. The disease has been attributed to mutations in the ABCC6 gene. Typical cutaneous lesions appear as small, yellow papules in the neck, axillae or groin that may develop in childhood and become more noticeable in adolescence. More serious manifestations include cardiovascular disease, visual impairment and gastrointestinal bleeding. Management consists of minimizing the complications of PXE and monitoring for changes with regular physical and ophthalmological examinations. Patients usually have a normal lifespan, but cardiovascular events may be fatal.