Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum is a skin disease that affects people of all ages. It causes redness and swelling of the skin, and sometimes blisters. In this article, you’ll learn about its symptoms and treatment options.


Pseudoxanthoma Elasticum is a rare condition that results in an accumulation of calcium in the elastic fibres of your skin, blood vessels, and even the eye. Although not life-threatening, it can be severe and requires medical attention. This disease is often the result of an ABCC6 gene mutation. It is a very serious condition, but with the proper care and treatment, the symptoms can be managed.

The most obvious symptoms of pseudoxanthoma elasticum are skin lesions, which may look like tiny cobblestones. These small yellowish bumps coalesce into plaques. Even if the lesions aren’t visible, a biopsy may be required to identify any characteristic changes. A good dermatologist will be able to send the sample to a laboratory to confirm the diagnosis.

In addition to skin lesions, other common sites include the groin, armpits, and neck. While some patients may respond well to injectable medications, others may experience retinal haemorrhage, a serious complication.

Pseudoxanthoma elasticum is a rare disease, with a frequency of one in 25,000 to one in 100,000 people. It is inherited in an autosomal recessive manner. Most affected individuals will not show any symptoms. As such, genetic counselling and monitoring are the primary means of treatment.

If you are diagnosed with this disorder, you will need a team of specialists to manage the condition. Your primary care physician should be your first stop, but an ophthalmologist, a gastroenterologist, and a vascular surgeon are also likely to be involved. Some patients have experienced some relief from plastic surgery and laser treatments.

The best course of action is to avoid activities that increase pressure in your eyes. Although there is no cure for pseudoxanthoma elasticum, you can enjoy a relatively normal lifestyle if you are diagnosed early. With proper management, you can have a long and healthy life. The most important thing to remember is that early detection and treatment is the key to a successful outcome. So get tested today! It may be the tiniest of things, but it can mean the difference between a normal life and an extended illness. The medical community has a lot of resources at its disposal to help you, including the NIH’s National Center for Biotechnology Information.


Pseudoxanthoma elasticum (PXE) is a rare inherited disorder of connective tissue that affects both skin and eyes. It is caused by a mutation in the gene ABCC6. These mutations lead to a loss of function for the protein and cause ectopic mineralization of the soft tissues. Typically, the skin and the cardiovascular systems are affected first, but it may also occur in other organs.

Patients with pseudoxanthoma elasticum are at risk for complications such as retinal haemorrhage and choroidal neovascularization. Affected individuals should undergo regular eye exams and have their blood pressure and lipids monitored. Several treatment modalities have been used, including anti-VEGF agents and laser photocoagulation.

In order to determine if a patient has PXE, a dermatologist should look for characteristic signs. The condition can be identified by observing the presence of yellowish, coalescent papules on the skin or in the groin.

Skin biopsies will confirm the diagnosis. Biopsies will reveal degeneration of elastic fibres infiltrated with calcium. Additionally, elastin-specific stains will reveal pleiomorphic elastotic material.

Angioid streaks are common in pseudoxanthoma elasticum. They are dark red-brown bands that appear as crack-like breaks in the Bruch’s membrane. Although angioid streaks can occur in other conditions, they are most often found in patients with pseudoxanthoma elasticum. However, they are a sign of systemic disease and should be ruled out in patients with no prior history of ocular involvement.

If a patient has angioid streaks, they should be monitored regularly by a cardiologist. Patients with this disease are at risk for choroidal neovascularization, which can lead to subretinal haemorrhage. Also, patients with this disease should avoid contact sports and drugs that might lead to stomach bleeding.

Pseudoxanthoma elasticum has no known cure. Therefore, it is best to identify this condition early. This will help minimize the impact of the disease on the patient’s quality of life.

Genetic counselling is an important aspect of the diagnosis and treatment of Pseudoxanthoma elasticum. Genetic counselling provides information on inheritance, genetic risk assessment, and the implications of a genetic disorder. Ultimately, however, it does not replace a consultation with a genetics professional.

Treatment options

Pseudoxanthoma elasticum (PXE) is an inherited genetic metabolic disease that affects the gastrointestinal, cardiovascular, and ocular systems. It occurs due to mutations in a gene called ABCC6, which encodes a cellular transmembrane transporter protein.

PXE causes abnormal calcification in elastic fibres, which are the structural components of connective tissues. These are composed of collagen, which provides strength to structures. The mineralization is most apparent in the elastic tissues of the eyes and the blood vessels.

In the early stage of pseudoxanthoma elasticum, the lesions are asymptomatic. However, as the patient grows older, these lesions can lead to vision loss. Also, the disease can cause a decrease in peripheral pyrophosphate levels. This leads to the dysregulation of blood lipids.

To prevent complications, it is important to monitor organ function. Specifically, patients should stay away from drugs that can cause bleeding. They should also avoid anticoagulants. As a result, regular follow-ups with their doctors and cardiologists can help reduce the risk of pseudoxanthoma elasticum.

Treatment involves monitoring the elastin fibres and taking measures to promote overall health. For example, a modified diet may improve the quality of life.

Patients with PXE should have regular blood lipids checked. Using statin treatment has shown to be effective in treating pseudoxanthoma elasticum.

Other possible treatments for pseudoxanthoma elasticum include surgery. Surgery can be used to repair small vascular defects and to improve the blood supply. Alternatively, gene therapy may be used.

Genetic testing for ABCC6 is the gold standard of diagnosis for PXE. Mutations in this gene have been found in 80% of clinical cases of pseudoxanthoma elasticum. Although the mechanisms of the disease remain unclear, it appears that a decreased level of PPi in the blood may contribute to the calcification in the tissue.

PXE is a very rare genetic disease. Although its exact pathology is unknown, previous studies have indicated that it may be associated with premature ageing. Moreover, it is believed that the disease is caused by the lack of a functional ABCC6 gene.

Because of its rare nature, treatment options for pseudoxanthoma elasticum are limited. However, the disease can be prevented by reducing cardiovascular risk factors.


Pseudoxanthoma elasticum (PXE) is a rare connective tissue disorder that affects the skin, arteries, and eyes. The condition is hereditary, and it is caused by mutations in the ABCC6 gene.

PXE typically presents with small, yellow, reticular papules that are grouped together in a plaque-like pattern. This reticular structure can range in size from 2 to 5 mm. The primary lesion is often asymptomatic, but the lesions tend to develop on flexural areas of the body, such as the neck, armpits, and axillae.

Symptoms of pseudoxanthoma elasticum may include ocular symptomatic, gastrointestinal bleeding, atherosclerosis, and retinal haemorrhage. In some cases, the disease may lead to impaired circulation and pain in the legs while walking. Some patients have a gradual loss of vision.

Because of the wide phenotypic range of PXE, it is important to identify and treat the disease early. This can minimize the risk of complications, such as atherosclerosis and mitral valve prolapse. Treatment focuses on preventing injury, monitoring organ function, and promoting overall health.

While most patients with PXE have mild phenotypic features, it can become quite severe, resulting in a life-limiting condition. The affected skin becomes wrinkled, and the elastin in the skin breaks down. This can result in a rhomboid or rhomboid-like shape.

PXE is a multi-system disease, affecting not only the skin but also the arteries, cardiovascular system, gastrointestinal tract, blood vessels, anogenital mucosa, and eyes. It can affect men, women, and children of all ages. However, it is most common in adults.

Pseudoxanthoma elasticum is caused by mutations in the ABCC6 transmembrane ABC transporter gene. These mutations can cause ectopic mineralization of the elastic fibres of the soft tissue in the skin and blood vessels. The ABCC6 gene is normally expressed in the kidney and liver. But in 80% of the clinical cases of pseudoxanthoma elasticum, there is a mutated copy of the gene.

There is no cure for pseudoxanthoma elasticum. It can be controlled by dietary supplements, such as magnesium oxide. Magnesium oxide has been shown to reverse the build-up of calcium in the skin. Also, certain medications are available to control blood vessel growth.

More on: Pseudoxanthoma elasticum: MedlinePlus Genetics
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