The condition called pseudoxanthoma elasticum was first recognized in the late 19th century when the skin changes were initially described. It is sometimes called Gronblad-Strandbberg syndrome after the Swedish ophthalmologist (Ester Elisabeth Gronblad) and dermatologist (James Victor Strandberg) who in 1929 made the association of eye and skin findings that is important to the diagnosis.
The current preferred designation is PXE. Several variants of classic PXE are now recognized including pseudoxanthoma elasticum-like disease described here.
The skin has characteristic changes, often beginning in childhood, which result from the presence of defective connective tissue components, primarily elastin. The skin may be excessively lax and ‘saggy’. It may be covered with small yellowish bumps, most prominently in the skin of the neck and groin, as well as in flexion areas of the elbows and knees.
A connective 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 can result in scarring of the retina with loss of vision. This usually occurs in the most visually sensitive portion of the retina known as the macula and consequently can have a devastating impact on vision.
Persons with pseudoxanthoma elasticum-like disease may also have significant disease of blood vessels although this may not be as widespread as in classic PXE. Blockages of blood vessels and atherosclerotic plaques in the lower extremities have been reported in a few individuals. Sac-like deformities of blood vessels (aneurysms) increase the risk of brain hemorrhages. In addition, in this PXE-like condition, there are often deficiencies in blood-clotting factors that can lead to serious nose-bleeds, bleeding of the gums, and severe vaginal hemorrhages.
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 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 skin changes. However, ophthalmologists and cardiologists are often consulted since the disease has widespread manifestations. The disorder is progressive and these specialists should monitor all 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.
Contact sports should be avoided to reduce the risk of bleeding. It may be prudent to avoid straining and tasks such as weight lifting which require excessive exertion.