Pseudoxanthoma Elasticum (pronounced soo-doh-zan-tho-muh e-las-ti-kum) is a rare genetic disease that affects the connective tissues in the body. The word is a combination of several Greek words, beginning with "pseudos" meaning false or fake, "xanthos" meaning yellow, and "elastos" meaning elastic. The spelling can be tricky because of the various phonemes involved, but the pronunciation should be broken down into syllables as seen above. Pseudoxanthoma Elasticum can lead to calcification and hardening of the skin and blood vessels, leading to a range of health issues.
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that affects the connective tissues and primarily manifests in the skin, eyes, and cardiovascular system. This condition is characterized by the progressive calcification and fragmentation of elastic fibers in these tissues, leading to various symptoms and complications.
In the skin, individuals with PXE might develop yellowish, small bumps or plaques that progressively spread and coalesce over time. These skin lesions are usually found in the flexural areas such as the neck, underarms, and groin. In the eyes, PXE can cause progressive deterioration of the retina, leading to central visual impairment or even blindness. Moreover, individuals with PXE are prone to developing cardiovascular complications, including arterial calcification, peripheral vascular disease, and internal hemorrhages.
Pseudoxanthoma elasticum is an autosomal recessive condition, meaning that both copies of the responsible gene must be mutated for the disorder to occur. The ABCC6 gene, which encodes for a transporter protein in the liver, is the most commonly affected gene in PXE. The exact mechanisms by which ABCC6 mutations lead to the abnormal calcification of elastic fibers remain unclear.
Although there is no specific cure for PXE, management focuses on symptom relief and prevention of complications. Regular ophthalmic examinations, blood pressure monitoring, and cardiovascular risk assessment are recommended. Preventive measures such as sun protection and avoiding unnecessary trauma to the skin can also be beneficial. Genetic counseling is essential for families with a history of PXE to assess the risk of passing on the condition to future generations.
The word "Pseudoxanthoma Elasticum" is derived from Greek and Latin roots.
- "Pseudo" comes from the Greek word "pseudes", meaning false or not genuine.
- "Xanthoma" is derived from the Greek word "xanthos", which translates to yellow, and "oma", meaning tumor or growth.
- "Elasticum" originates from the Latin word "elasticus", referring to something that is elastic or capable of stretching.
Therefore, the term "Pseudoxanthoma Elasticum" describes a condition characterized by the abnormal stretching and yellowish appearance of elastic fibers, yet these fibers are not genuine or functioning normally.