What's up with my kid's wonky leg?
February 27, 2010 7:31 AM   Subscribe

Do you have experience with Cutis Marmorata Telangiectatica Congenita or Linear Nevus?

My daughter was born with a funky looking leg - mottled, bruised looking, lumpy, and slightly thinner than the other leg. An ultrasound at the hospital indicated that the leg was structurally normal. We saw a pediatric plastic surgeon who handles a lot of vascular abnormalities and he suspected either Linear Nevus (more likely) or Cutis Marmorata Telangiectatica Congenita (cmtc). He was leaning toward linear nevus, but he wouldn't be able to tell for sure until later. He told me both were benign conditions and that cmtc would fade with time, and linear nevus could be treated. We didn't discuss the treatment. He took pictures and asked to see her again at 6 months. That appointment is Monday.

Looking these conditions up on the internet (probably a mistake), I see that there are a whole bunch of potentially horrible conditions (some of which are obviously not there) associated with either diagnosis, but everything is too medically technical for me. My daughter is very healthy and developing well. Her leg does not appear to have faded and is still thinner than the other leg, but seems to be growing and functioning fine.

My questions:
If you have experience with either of these conditions, what happened in your case?
What questions should I be asking the plastic surgeon?
posted by Dojie to Health & Fitness (5 answers total)
Hi, I'm a doctor but not a plastic surgeon or a dermatologist.

However, I can reassure you that a linear nevus is just a mole or basically skin discoloration that is linear (meaning elongated like a line) in shape. .

CMTC is very rare, had to look it up, but I don't see anything potentially horrible - the sources I'm looking at just say that it usually resolves on its own, and if it doesn't, the potential complications are increased sensitivity to heat and cold, a pins and needles sensation (paresthesias), and skin ulcers. Skin ulcers are no fun, but can be treated with simple antibiotics if they appear. As this is a very rare condition, and I have never seen a patient with it, perhaps other people can shed some light on it.

I think you are getting scared because you are seeing that there are other medical conditions associated with CMTC (and maybe with nevi).

You've said that your daughter doesn't have any other apparent congenital conditions or anomalies, so this does not seem to be a concern. They are just associated conditions that one might be suspected to have, or obviously be co-diagnosed with, at the same time as CMTC or nevi, not conditions that develop because of CMTC or nevi. Babies who have one congenital anomaly may have other anomalies associated with them, but not always.

Does that make sense? The bottom line is that the prognosis is good. If you need help deciphering other medical jargon, you can MeMail me.
posted by treehorn+bunny at 8:18 AM on February 27, 2010 [2 favorites]

Here are some examples of the stuff that's confusing me.

This page on cmtc (nsfw-naked baby pictures) says that "approximately 50% of patients have one or more other congenital abnormalities." Some of the abnormalities (cleft palate, retinal detachment) are clearly not a problem, but I don't know anything about most of the other conditions listed and I don't know if they are anything we should be checking for or concerned about.

The search on linear nevus is even more confusing. Google mostly brings up case studies of nasty cranial lesions and medical research. The most general descriptions I could find are this page, which describes the mole-type condition along with some much scarier possibilities, and this page which lists a number of different conditions with the words linear and nevus in them, but there aren't more than two sentences in the whole thing which have any meaning to me. We definitely aren't talking about a simple mole or skin discoloration - so I suspect one of these other conditions may be what he meant, but since I can't figure out what those conditions actually are, I don't know what to ask about if that turns out to be the diagnosis.
posted by Dojie at 9:55 AM on February 27, 2010

Dojie, I took a look, that Emedicine page on CMTC was the same one I was looking at (Emedicine is my favorite public reference site, but it is obviously geared towards healthcare providers so it's in 'our language').

In terms of the conditions listed with CMTC, you say your baby is developing normally, so there is no reason to suspect mental retardation or psychomotor retardation, but your regular pediatrician should be able to help you pick up on it if your baby is not reaching normal developmental milestones and refer you for testing if that is the case.

For the more common issues, body asymmetry it sounds like she has along with some limb atrophy of that limb. For the rare issues, I won't go through each one, but generally, those things should have already been detected by now if they were present. They are mostly things that would be apparent on a physical exam, or would have been picked up on the ultrasound of the leg. Possible exceptions to this: mild growth deficiency, polycystic kidneys (unless she has had a kidney ultrasound or an abdominal CT scan).

The linear nevus syndromes you have researched are very rare and unfamiliar to me. You probably are right that this was what he meant - I really can't comment much more on what you found and the likelihood of that being the diagnosis because it is so specialized, except to say that it may have become much clearer to your doctor what the diagnosis is by this next appointment because he will be able to get a better exam on an older infant.
posted by treehorn+bunny at 10:58 AM on February 27, 2010

We saw the doc and he says it is definitely CMTC, and she has a minor amniotic band as well. He wants to check on her again in another six months, but he's not concerned about anything.

Thanks for your help treehorn+bunny. I'd still very much like to hear if anyone has any personal experience with CMTC, but it sounds like it's rare enough that it isn't likely.
posted by Dojie at 11:00 AM on March 1, 2010

Posting an update for the incredibly unlikely event that someone runs across this and wants more information.

We found an active support group for CMTC (also called Van Lohuizen syndrome) based in the Netherlands. We also saw a geneticist who gave us some great information. He says that CMTC is a mutation that makes development go screwy somehow and the location and timing of the mutated cell affects what parts of the body will be affected. So if it's on the face, for example, there are likely to be other things going wrong in the head. Since our daughter's visible problem is confined to the leg, it appears to have been a somatic mutation in the limb bud and she is unlikely to have any issues apart from the leg and probably won't pass it on to her children.

He also said that although there have only been 2-300 diagnosed cases of CMTC, this is something like the blind men and the elephant. A dermatologist might diagnose it as one thing, a vascular doc might say something else, and so on. So far, no one has put all the pieces together and figured out if there are multiple diagnoses of the same thing and gotten a complete picture of what's involved.

In our case, we will be following up with an orthopaedist for the leg size discrepancy and she will need to check again with a geneticist before she has kids to see if a gene test has become available by then to verify if the mutation is present in her ovaries. It doesn't look like she is likely to have any other issues from it that won't come up in regular pediatric checkups.
posted by Dojie at 10:17 AM on May 14, 2010

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