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Pseudoxanthoma elasticum is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers, which are a component of connective tissue. Connective tissue provides strength and flexibility to structures throughout the body.
Mineralization can affect elastic fibers in the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. People with pseudoxanthoma elasticum may have yellowish bumps called papules on their necks, underarms, and other areas of skin that touch when a joint bends (flexor areas). They may also have abnormalities in the eyes, such as a change in the pigmented cells of the retina (the light-sensitive layer of cells at the back of the eye) known as peau d'orange. Another eye abnormality known as angioid streaks occurs when tiny breaks form in the layer of tissue under the retina called Bruch's membrane. Bleeding and scarring of the retina may also occur, which can cause vision loss.
Mineralization of the blood vessels that carry blood from the heart to the rest body (arteries) may cause other signs and symptoms of pseudoxanthoma elasticum. People with this condition can develop narrowing of the arteries (arteriosclerosis) or a condition called claudication that causes cramping and pain during exercise due to decreased blood flow to the arms and legs. Rarely, bleeding from blood vessels in the digestive tract may also occur.
The prevalence of pseudoxanthoma elasticum is unknown. For reasons that are unclear, this disorder is diagnosed twice as frequently in females as in males.
Mutations in the ABCC6 gene cause pseudoxanthoma elasticum. Little is known about the function of this gene. It provides instructions for making a protein called multidrug resistance-associated protein 6 (MRP6, also known as the ABCC6 protein), which is found primarily in cells of the kidney and liver. This protein is thought to transport certain substances across the cell membrane; however, the substances have not been identified. Mutations in the ABCC6 gene lead to an absent or nonfunctional MRP6 protein, which may impair the transport of particular substances into the blood for distribution to other parts of the body. It is unclear how ABCC6 gene mutations lead to the mineralization of elastic fibers and the characteristic features of pseudoxanthoma elasticum.
Changes in this gene are associated with pseudoxanthoma elasticum.
Pseudoxanthoma elasticum is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
In a few cases, an affected individual has one affected parent and one parent without the signs and symptoms of the disorder. This situation is called pseudodominance because it resembles autosomal dominant inheritance, in which one copy of an altered gene in each cell is sufficient to cause a disorder. Such cases of pseudoxanthoma elasticum, however, are actually autosomal recessive because the normal-appearing parent has an ABCC6 gene mutation. The affected offspring inherits two altered genes, one from each parent.
These resources address the diagnosis or management of pseudoxanthoma elasticum and may include treatment providers.
You might also find information on the diagnosis or management of pseudoxanthoma elasticum in Educational resources (http://www.ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum/show/Patient+support).
General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).
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You may find the following resources about pseudoxanthoma elasticum helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
angioid streaks ; arteries ; arteriosclerosis ; autosomal ; autosomal dominant ; autosomal recessive ; calcium ; cell ; cell membrane ; claudication ; connective tissue ; digestive ; elastic ; gene ; inheritance ; inherited ; joint ; kidney ; mutation ; offspring ; prevalence ; protein ; pseudodominance ; recessive ; retina ; syndrome ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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