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Rylie's Story-- Cutis Marmorata Telangiectatica Congenital (CMTC)

By Sara L. Rushing

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My son, Rylie, was born on December 14, 2004 with Cutis Marmorata Telangiectatica Congenital (CMTC). It is a rather large and scary name for something on a newborn baby. There is “marbling” on his right leg, part of his left hand and arm and a couple small patches on his back. This was present at birth and has changed very little in the 5 ½ months since.

There was absolutely nothing remarkable about my pregnancy. In fact, it was pretty much the same as my first one, four years previous. I was extremely sick the first three months, felt great the middle three, and then was a pretty big lady my last three. I worked full time until the Friday before Rylie was born on Tuesday. There was no hint that there might be anything amiss until he was delivered. After the delivery, I can remember hearing the nurse and midwife saying something about bruising, but then that it couldn’t be, because it didn’t look right and it covered his whole leg. I had a really easy delivery (translated: the midwife arrived and in less than 15 minutes, we had a baby). There really wasn’t much chance that it was bruising.

I got to hold Rylie for about five minutes, then they took him to the warmer and called the nurse practitioner from the nursery. There were about six people gathered around my newborn talking about what this could possibly be on his leg, and whether or not it was something that was going to affect breathing, blood flow, etc. The neonatologist on duty saw Rylie and he paged the senior neonatologist to come back to the hospital to look at Rylie. We were told by the senior neonatologist that he had seen over 100,000 babies and had never seen anything like this. He said that it looked like his skin hadn’t formed. He affectionately called him Spiderman. Not so funny when it is your child.

It took from 2:33 on Tuesday afternoon to about 6:00 Wednesday night for Rylie to be diagnosed. It seemed like forever to us. The neonatologist really didn’t know what it was and put in a consult soon after seeing Rylie for a dermatologist. The dermatologist has been in practice for about fourteen years and has seen only a few cases of CMTC.

Click to see full size image in a pop-up windowCMTC is a Latin name given to the condition. Cutis Marmorata is just where the veins dilate and can be seen through the skin. It is a very natural and normal reaction for an infant when he is cold. Most people have seen this, it is just that it is such a normal reaction, a person would not give it a second thought. Telangiectatica is meaning that it is always present. Congenita just means that it was present at birth.

There are many complications that are related to CMTC. A lot of the complications are directly connected to the location of the CMTC. We are very fortunate that Rylie’s is contained mostly to limbs. CMTC on the head can cause glaucoma, possible hearing problems, and possible problems with the brain. There is speculation on some of this, as CMTC is very rare and there really are not many cases to go on.

After Rylie was diagnosed, the neonatologist did an excellent job of covering what all complications that he could have. Before he ever left the hospital, he had an echocardiogram, renal ultrasound, and was seen by a pediatric ophthalmologist. Everything came back fine. Rylie is being tracked now by his pediatrician and a pediatric dermatologist. We are also lucky that we live in a large area (near Virginia Beach, VA) where there is a children’s hospital (Children’s Hospital of the King’s Daughters) and many pediatric specialists. Since coming home from the hospital, we have seen the pediatric dermatologist twice (Dr. Judith Williams of CHKD), a pediatric orthopedist (Dr. Fox of CHKD), and an ophthalmologist. We go back to see Dr. Williams in September. I also never thought that I would say that I am thankful to be on Tricare (military insurance), but I am. We have no co-pay and Rylie can see the necessary doctors, as long as the referrals are done correctly. I have found the system extremely easy to work with.

Rylie has few problems so far, but time will tell. The problems that we have to be very concerned with are skin ulcers and limb asymmetry. Rylie’s right leg (affected leg) is visibly smaller in circumference than his left leg. Right now, the doctors are not real concerned, as this might just be baby fat. There is a very good probability that Rylie is always going to have a difference in the circumference because the blood vessels are a little constricting in his affected area. The orthopedist said that he didn’t see any visible difference in the length, but the only true way to tell is to do a radiograph and Rylie is just too young to be exposed to X-ray at this point. Even if there is a big difference, they don’t even consider surgery until he is much older.

There are no signs that CMTC is hereditary. There really are no signs as to where it comes from. I have searched the web many nights and have finally found a website that is specifically for CMTC. It is based out of the Netherlands. The first doctor to document CMTC was from the Netherlands. His name was Van Lohuizen and CMTC is also known as Van Lohuizen syndrome. I have been in contact with Lex van der Heijden, the president of the group. He is going to be in Washington, DC at the end of July and I am going to try to make a trip up there to meet with him and several others who have or have a child that has CMTC. This group has 70 members from 10 countries, 15 members from the USA. Genetic research started in February in the Netherlands.

I’m sure that I have given more information than you can digest in one sitting. It is very frustrating to go to a doctor, and that doctor really doesn’t know what he is looking at. I have to carry a description with me at all doctor’s appointments now so that they know what they are looking at. I am really supportive of the Vascular Birthmark Foundation’s effort to get new textbooks out to the doctors. Maybe by doing this, other parents will not have to wait to have a diagnosis as to what their child has.

Rylie is truly a blessing to us. He is probably the sweetest baby around. Time will tell how everything works out. Through it all, though, we just try to remember that we should be thankful for what we have.

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