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What Is Pseudoxanthoma Elasticum? Facts, Signs, Symptoms

Pseudoxanthoma elasticum (PXE), also called Groenblad-Strandberg syndrome, is a genetic disease that causes mineralization of elastic fibres in some tissues. The most common problems begin in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis.

Signs and symptoms

Usually, it affects the skin first, either in childhood or in early adolescence. Small, yellowish papular lesions form and usually affects the neck, axillae (armpits), groin, and flexural creases. The skin might become lax and redundant. Many individuals have “oblique mental creases” which are basically, horizontal grooves of the chin.

PXE initially 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), that is only visible during ophthalmologic examinations. Eventually, the mineralization of the elastic fibres in the Bruch membrane create cracks called angioid streaks that radiate out from the optic nerve. Angioid streaks themselves do not distort vision, even if they do cross into the foveal area. This symptom is present in mostly all PXE patients and is generally noticed a few years after the start of cutaneous lesions. These cracks might allow small blood vessels that were initially being held back by the Bruch’s membrane to penetrate the retina. These blood vessels seldom leak, and these retinal haemorrhages may lead to the loss of central vision. Vision loss is a significant issue in many PXE patients.

PXE may also affect the cardiovascular and gastrointestinal systems. Gastrointestinal bleeding is a rare symptom and generally involves bleeding from the stomach. In the circulatory system, cramping pain in the leg is induced by exercise. At later stages, coronary artery diseases might develop, leading to angina and myocardial infarction (heart attack) may occur. Several other rare neurological complications might include intracranial aneurysms, subarachnoid and intracerebral haemorrhages.


The diagnostic criteria for Pseudoxanthoma Elasticum are the typical skin biopsy appearance and the presence of angioid streaks in the retina. Standards were established by the consensus of clinicians and researchers at the 2010 biennial research meeting of the PXE Research Consortium and confirmed at the 2014 meeting.


There is no guaranteed treatment that directly interferes with the disease process. Cosmetic surgery to remove excess skin has been used to improve aesthetic appearance in PXE patients, but because of the non-life-threatening nature of these symptoms, should be used with caution.

One of the most critical symptoms of PXE is choroidal neovascularization that can lead to the decline of central vision. Photodynamic therapy has often been used as a treatment, but this has been replaced with endothelial growth factor (VEGF) inhibitors (such as bevacizumab, ranibizumab, and aflibercept) with efficacy similar to their use in the treatment of age-related macular degeneration.

To limit cardiovascular symptoms, modification of cardiovascular risk factors through changes in lifestyle is recommended.

Earlier, dietary restriction of calcium was implemented with no benefit. Several potential treatments are currently being tested or have just undergone testing, including magnesium, etidronate, PPi, and tissue-nonspecific alkaline phosphatase inhibitors.

What You Need to Know About 5 Common Genetic Disorders

Genetic disorders can be the outcome of genetic irregularities such as gene mutation or additional chromosomes. The effects of anomalies in an individual’s DNA were once completely unpredictable. However, modern medicine has produced several methods of identifying the potential health outcomes of genetic disorders.

  1. Down Syndrome– Usually, the nucleus of a cell contains 23 pairs of chromosomes. Down syndrome occurs when the twenty-first chromosome is copied an extra time in some or all of our cells. Practitioners and physicians typically perform comprehensive prenatal screening tests, such as blood tests, that detects chromosomal material and other substances in the mother’s blood. This kind of testing can determine, with great accuracy, whether or not a child will have Down syndrome. When someone is diagnosed with Down syndrome, they are likely to show differing levels of mild, moderate or even severe cognitive delays. Some other markers of Down syndrome are a higher disposition for congenital heart defects, smaller physical stature, low muscle tone, and an upward slant to the eyes. Studies suggest that the older a mother is at the time of birth, the more likely the child is to have Down syndrome.
  2. Thalassemia –Thalassemia is a family of hereditary genetic conditions that limits the amount of haemoglobin an individual naturally produces. This condition inhibits the level of oxygen flow throughout the body. There is about a 25 percent chance that children who inherit the Thalassemia gene from both parents will be born with Thalassemia. People who are more prone to be carriers of the faulty gene that causes Thalassemia include people from Southeast Asian, Indian, Chinese, Mediterranean, Middle Eastern, and Northern African descent. With Thalassemia usually comes severe anaemia, which may require specialized care such as regular blood transfusions and chelation therapy.
  3. Cystic Fibrosis –Cystic Fibrosis is a chronic, genetic condition that results in patients producing thick and sticky mucus. This inhibits their digestive, respiratory, and reproductive systems. Cystic Fibrosis is usually inherited at a 25 percent rate when both the parents have the Cystic Fibrosis gene. Educated healthcare providers can extend the typical patient’s survival time by offering effective care strategies that feature physical therapy, as well as medical and dietary supplementation.
  4. Tay-Sachs disease –The genetic condition is caused by a chromosomal abnormality similar to that of Down syndrome. However, unlike Down syndrome, Tay-Sachs results from a defect found in chromosome number 15, and the disorder is irreversibly fatal when found in children. Tay-Sachs disease slowly destroys the nervous system, often resulting in death by the age of five.
  5. Sickle Cell Anemia –Sickle Cell Disease is a lifelong genetic condition that may be inherited when the Sickle Cell trait is passed down by both parents to their children. The character is more often inherited by people with a sub-Saharan, Mediterranean or Indian heritage. Sickle Cell Disease causes the red blood cells to change from their usual doughnut shape to a sickle shape. Due to this, the cells clump together and get caught in blood vessels, triggering severe pain and serious complications such as infections, organ damage, and acute respiratory syndrome. With the advancement in medicine, the mortality rate has been limited by providing a greater variety of vaccines and treatment options.