Disease Review Paper REVISED

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Port Wine Stains
Disease Review Paper
By: Kaitlyn Darchuk

Human Anatomy & Physiology I
Jody Hibma
11/23/2014
Wednesday Lab

For my disease review paper I decided to write about port-wine stains. The reason I chose port-wine stains is because my daughter has a birthmark covering the entirety of her left arm, shoulder, and a small portion of her chest and back. Throughout this paper I will go over what this condition is, how many people it affects, what the different severities of the condition are, and what treatments there are, along with what treatments scientists are currently working to develop. Port-wine stain is a birth mark that is caused by a capillary malformation in which a person’s blood vessels are dilated causing a red (or purple, in more severe cases) stain on the skin. (Antaya, 1) This birth mark effects three out of every 1,000 people, and is the most common capillary malformation. (Berman, 1)
According to an article on WebMD News discussing a study in the New England Journal of Medicine, researchers believe they have finally found the cause of port-wine stain. Scientists performed a genome sequence on patients with a port-wine stain and patients without the stain. In almost all cases they found that the patients with the birth mark had a mutation in one particular gene, that being the GNAQ gene. The scientists performing the study rarely found an abnormality in the GNAQ gene within the genome sequence of an individual without the port-wine stain. (Goodman, 4) Scientists believe that it is a change that occurs to the GNAQ gene shortly after conception. (Goodman, 1) This mutation is not believed to be due to anything the mother did while pregnant. (“Capillary Malformations”, 3) A port-wine stain is present at birth and is a condition that lasts throughout life. The stain does not spread, but will grow as the child does. (“Capillary Malformations”, 4) It most often presents itself on the head, face, or neck, but in rarer cases can be found on other parts of the body. (“Capillary Malformation”, 1) As the person with this birth mark ages, the port-wine stain often changes color from pink during infancy, to red during early adulthood, and lastly purple during middle adulthood. (Antaya, 2) Complications that occasionally occur for an individual with a port-wine stain are deformity, disfigurement, emotional and social issues, and in some cases where the stain is located near the eyelid, glaucoma. Although this birth mark is usually harmless, it can sometimes be an indicator of a more serious condition like Sturge-Weber syndrome or Klippel-Trenaunay syndrome. (Berman, 1)
Sturge-Weber syndrome is a condition that is characterized by neurological issues and a port-wine stain usually covering one side of the face. The neurological abnormalities are caused by enlarged capillaries on the surface of the brain. These abnormalities can cause seizures, hemi-paresis, glaucoma, and delay of motor and cognitive skills. (“Sturge-Weber syndrome”, 1)
The other known condition related to port-wine stains is Klippel-Trenaunay syndrome. In Klippel-Trenaunay syndrome, the Port Wine Stain usually covers a single limb. With this syndrome there are often vein malformations, and an overgrowth of soft tissue and bones. Quite a few complications can occur with Klippel-Trenaunay syndrome including deep vein thrombosis, pulmonary embolisms, abnormal growth of the limb that has the stain, cellulitis, internal bleeding, fusion of digits, or extra digits. (“Klippel-Trenaunay syndrome”, 1) This condition only occurs in approximately one in 100,000 people. (“Klippel-Trenaunay syndrome”, 2) The more serious conditions can be confirmed by a CT scan, ultrasound, or MRI. (Antaya, 3) The port-wine stain birthmark currently has no lasting solution. The most popular treatment is laser therapy, which unfortunately can only lighten the stain. Some factors are involved that determine how well the laser therapy will work, including
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