Parkes Weber syndrome

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Parkes Weber syndrome (pronounced: pahrks web-er sin-drohm) is a rare congenital condition characterized by the presence of arteriovenous malformations (AVMs) and limb overgrowth. The syndrome was first described by British dermatologist Frederick Parkes Weber in 1907.

Etymology

The syndrome is named after Frederick Parkes Weber, a British dermatologist who first described the condition in 1907.

Definition

Parkes Weber syndrome is a rare, congenital vascular disorder characterized by a complex network of abnormal blood vessels, known as arteriovenous malformations (AVMs), and associated with overgrowth of the affected limb.

Symptoms

The primary symptoms of Parkes Weber syndrome include:

  • Limb overgrowth: One of the limbs, usually a leg, is noticeably larger than the other.
  • Arteriovenous malformations (AVMs): These are abnormal connections between arteries and veins, bypassing the capillary system.
  • Port-wine stain: A type of birthmark that looks like a wine spill on the skin.
  • Heart failure: This can occur if the AVMs place too much strain on the heart.

Diagnosis

Diagnosis of Parkes Weber syndrome is typically based on the physical symptoms, particularly the presence of AVMs and limb overgrowth. Imaging tests such as MRI or angiography may be used to confirm the diagnosis.

Treatment

Treatment for Parkes Weber syndrome is typically focused on managing the symptoms and preventing complications. This may include surgery to correct the AVMs, compression therapy to manage limb overgrowth, and medication to manage any associated heart problems.

See also

References


External links

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