Also known as … Grönblad–Strandberg Syndrome
Pseudoxanthoma elasticum (PXE) is a progressive systemic disorder resulting from the accumulation of calcium and minerals in the elastic fibres of the connective tissue. Connective tissue provides strength and flexibility to your body structures. PXE can affect the elastic fibres in the skin, as well as the eyes, blood vessels and sometimes the digestive tract.
It affects approximately 1 in 50,000 people worldwide.
Pseudoxanthoma elasticum is a genetic disorder caused by mutation in the ABCC6 gene. This gene is important for making proteins found in cells of the liver, kidneys, skin, stomach, blood vessels and eyes.
It is inherited in an autosomal recessive manner. This means a person must have received both copies of the mutated genes from their parents to be affected. Most people can carry a copy of the mutated gene but not have the condition.
People with PXE often have small yellowish bumps (papules) on their skin that resemble skin of a “plucked chicken”. the skin can become lax and redundant in advanced stages. These changes are typically seen on the neck, armpits and inner surface of joints.
The abnormal deposition of minerals in PXE can cause abnormalities in the:
- Eyes – abnormal vessel growth resulting in bleeding or scarring of the retina. This causes changes in colour vision, reduced or complete loss of vision.
- Heart & Blood vessels – narrowing of the arteries causes cramping and pain in arms and legs (claudication), stroke, renovascular hypertension, angina & heart attacks.
- Digestive tract. – bleeding
Obstetric complications: increased risk of miscarriage in the first trimester, worsening of the skin & systemic complications during pregnancy.
The diagnosis can be made clinically. A skin biopsy may be needed from skin lesions. It is formally diagnosed via genetic testing. Imaging, eye exam & further testing may be needed to assess other organs involvement.
No specific treatment for PXE exists. The most important aspect of management is to ensure that complications are prevented & dealt with by the appropriate specialist. Regular Surveillance for complications is often recommended.
- Avoiding contact sports to reduce the risk of bleeding & eye injury
- Avoiding aspirin and NSAIDs to reduce the risk of digest tract bleeding
- Stopping smoking
Despite the possibility of PXE to affect multiple organs, most affected individuals live a normal life span. Affected individuals should be aware of the potential complications and to look out for these symptoms.
This information has been written by Dr Ruby Lee and Dr Heba Jibreal
Published October 2020