Texier's disease
Texier's Disease
Texier's Disease (pronounced: teks-ee-ayz dih-zeez), also known as Pseudoxanthoma elasticum (PXE), is a rare genetic disorder that affects the connective tissues in the body. The term "Texier's Disease" is derived from the French physician, François Texier, who first described the condition in 1881.
Definition
Texier's Disease is characterized by the progressive calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system. This leads to a variety of symptoms, including skin changes, vision loss, and heart and blood vessel problems.
Symptoms
The symptoms of Texier's Disease can vary greatly from person to person. They typically begin in childhood or adolescence and may include:
- Skin changes: The skin may become loose, saggy, and develop a yellowish hue. This is most noticeable on the neck, armpits, and other areas of flexion.
- Vision loss: This can occur due to changes in the retina, the light-sensitive tissue at the back of the eye.
- Cardiovascular problems: These can include angina, heart attack, and stroke.
Causes
Texier's Disease is caused by mutations in the ABCC6 gene. This gene provides instructions for making a protein that is believed to play a crucial role in the transport of certain molecules across cell membranes.
Diagnosis
Diagnosis of Texier's Disease is typically based on the presence of characteristic clinical features. This may be confirmed by genetic testing to identify mutations in the ABCC6 gene.
Treatment
There is currently no cure for Texier's Disease. Treatment is aimed at managing symptoms and preventing complications. This may include skin care to manage skin changes, regular eye examinations to monitor vision, and medications to manage cardiovascular problems.
Prognosis
The prognosis for individuals with Texier's Disease can vary. Some people may have mild symptoms and a normal lifespan, while others may experience serious complications such as vision loss and heart disease.
External links
- Medical encyclopedia article on Texier's disease
- Wikipedia's article - Texier's disease
This WikiMD article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski