This is a disorder of elastic fibers which are abnormally formed as a result of a gene mutation. Calcium deposits among these fibers create tissue that is abnormally brittle with adverse effects in the skin, eyes, and blood vessels.
Skin changes may appear in childhood but often later as well. These consist of laxity and sagging. In addition, small yellowish bumps appear, often in the skin of the neck and in the groin as well as in the flexion areas of the elbows, and the knees. These cause few symptoms but may be of cosmetic significance.
More serious are breaks in the walls of blood vessels which can lead to occlusion or hemorrhage. Among the most serious consequences are bleeding into the gastrointestinal tract which may be life-threatening. Closure of the vessels to leg muscles can cause incapacitating pain when walking or exercising. The same process in arteries supplying the kidneys may produce severe hypertension. Heart valves (especially the mitral valve) sometimes do not function properly when they are abnormally floppy or stiff due to the calcium deposits.
A tissue beneath the retina (the light sensing tissue) of the eye called Bruch membrane sometimes develops breaks thereby allowing blood vessels to grow into the eye. These often bleed and such hemorrhage into the eye causes scarring and loss of vision.
This is an autosomal recessive disorder which requires the presence of two mutations. The parents who each carry a single mutation may have minor manifestations of pseudoxanthoma elasticum but are usually not severely symptomatic. Couples who have an affected child can expect that each of their children has a 25% risk of developing pseudoxanthoma elasticum.
The diagnosis is frequently made by dermatologists because of the changes in the skin. However, ophthalmologists, cardiologists, and gastroenterologists are often consulted since the disease has widespread manifestations. The disorder is progressive and these specialists should monitor all such patients throughout their lives.
There is no specific treatment for the disease but therapies are available for some of the signs and symptoms. Redundant, sagging skin can be surgically removed. Abnormal vessels in the eye should be treated before hemorrhage occurs in order to preserve vision. Certain drugs can improve blood flow when blood vessels are constricted. About 10% of patients develop bleeding into the digestive tract at some point in their lives and the loss of blood can be life-threatening.
Contact sports should be avoided. It may be prudent to avoid straining and tasks such as weight lifting which require excessive exertion.