Tatiana [Jacob's Mom]: Come here, let's go.
Tatiana: I knew something wasn't right with Jacob a month after he was born when I noticed the white patches on his skin. The doctor referred me to a dermatologist.
Dr. Joop Grevelink [Dermatologist]: There are many types of tuberous sclerosis lesions. We commonly see ash leaf macules that are slightly hypo-pigmented, slightly white spots, that are scattered throughout.
Tatiana: The white spots are just patches on his skin that lack pigment so they're a lot lighter than his normal skin color. And they're noticeable.
Dr. Grevelink: Another lesion is the plaque called a collagenoma or connective tissue called the shagreen patch on the lower back. There are other collagen plaques, collagenomas that I see on the forehead and scalp.
Dr. Elizabeth Thiele: The periungual fibromas here and here. And do those ever bleed or bother you? Or they're just there.
Brad [Adult with TSC]: No. They're just there.
Dr. Thiele: The ones on your toes bother you a little bit more.
Dr. Thiele: Okay, so Brad ...
Dr. Grevelink: Also very commonly seen are the fibromas around the nails and the fingers and the toes that can be bothersome.
Brad: I have fibromas on both of my feet and I have fibromas on my face.
Dr. Grevelink: The most common lesion is the angiofibroma of the face.
Dr. Grevelink: An angiofibroma is in essence a little mole, that consists of some fibrous tissue, collagen elastin tissue, and some blood vessels intermixed. But it's mainly a fibrous growth, but small. They usually, you know, vary in size from one to three or four millimeters.
Danica [Adolescent with TSC]: I have little red bumps on my face, on my nose and my chin.
Dr. Grevelink: It's typically around age four or five, when there are more lesions noticeable. They start out as small sort of red specks, and then become slightly more raised over time. The problem with angiofibromas is that originally they might look like acne, but then they never go away. And they actually multiply in numbers. Angiofibromas that need to be treated are the ones that are either causing medical problems or psychosocial problems.
Dr. Grevelink: The treatment is really focused in the last 15 years on laser treatment. There are some new drugs that are being tried, but the laser treatment sort of has been the main stay. In general, I like to see patients being treated with they're motivated. That means that they have to be a little bit older.
Danica: I'm going to start with my chin, because that's the smallest area and I'm going to see how it works out and if I'm happy with the results, I'll do the rest of my face.
Dr. Grevelink: The angiofibromas slowly grow back over time. You reduce them in size, but it's not uncommon to touch up a patient now and then, five years later; getting rid of a few extra lesions; getting rid of a few new lesions; getting rid of a few lesions that grew back. So it's sort of an ongoing process.
Dr. Grevelink: I think the treatment is a godsend. It really reduces the amount of lesions significantly, and can often make their skin look pretty normal, which is huge from a psychosocial aspect.
© 2006 The General Hospital Corporation.