Pseudoxanthoma elasticum

Pseudoxanthoma Elasticum (PXE) is a genetic disease that is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16. PXE causes mineralization of some elastic fibers. The most common problems arise in the skin and eyes. more...

Usually, the skin is the first place that PXE affects. Small, yellowish papular lesions form and cutaneous laxity mainly affects the neck, axillae (armpit), groin, and flexural creases (Gheduzzi et al. 2003).

Only visible during ophthalmologic examinations, PXE first affects the retina through a dimpling of the Bruch membrane (a thin membrane separating the blood vessel-rich layer from the pigmented layer of the retina). This state is called peau d’orange (a French term meaning that the retina resembles the skin of an orange). Eventually the mineralization of the elastic fibers in the Bruch membrane creates cracks that form into angioid streaks. Angioid streaks refers to the system of cracks that radiate out from the optic nerve. This symptom is present almost all PXE patients and is usually noticed a few years after the onset of cutaneous lesions. These cracks may allow small blood vessels that were originally held back by the Bruch membrane to penetrate the retina. These blood vessels sometimes leak, and it's these retinal hemorrhages that may lead to the loss of central vision (Glass 2005).

PXE rarely effects the cardiovascular and gastrointestinal systems.

All individuals affected by PXE have peau d'orange and angioid streaks and most have lesional skin in the flexor areas.

Treatment options involve plastic surgery and laser surgey for retinal disease.

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