Avenous malformation is a rare and often devastating condition because it is poorly understood, difficult to treat and often misdiagnosed.

The pronounced lesions are caused by abnormally formed and dilated veins. These lesions can appear on any organ system — including the spleen, brain and even the tongue — as well as on the skin and mucous membranes.

The exact cause of venous malformations is not known, except that they are a congenital defect involving a deficiency of smooth muscle cells in the vein walls.

The condition is usually present at birth, but may not be noticed for years because the lesions tend to grow slow and steadily over time. Puberty, pregnancy and other hormone changes can cause rapid growth.

Dr. Richard Azizkhan, chief of surgery at Cincinnati Children's Hospital, is a foremost expert on venous malformations and treats about 75 children a year with the condition.

He said venous malformations rarely lead to pronounced facial deformities, as in Rocio's case, but they are extremely difficult to treat in nearly all cases.

This is because cutting into the venous lesions causes massive hemorrhaging.

"It's like cutting into a bowl of spaghetti," he said.

Smaller lesions can sometimes be removed by cutting around the mass, or lesions can sometimes be shrunk through radiation. Another technique involves injecting alcohol into the blood vessels, Azizkhan said.

The closer the affected blood vessels are

Advertisement
to the surface of the skin, the redder the color, so a deep lesion may appear bluish while a superficial lesion tends to be a maroonish-red. They are typically soft to the touch.

The condition is not usually life-threatening unless the lesions form around major organs, such as the heart or brain. Epilepsy can be related to venous malformations on the brain, Azizkhan said.

For patients with severe cases, like Rocio, treatment options are few.

"These patients carry a tremendous emotional burden when it is disfiguring," Azizkhan said.