Tuesday, February 19, 2008

S**t


Lucky has a sort of birthmark on her right arm. It looks like very prominent veins starting on the back of her hand and snaking up her forearm to her elbow. Today we went to the dermatologist who told us she has cutis marmorata telangiectatica congenita, do you believe it, a rare disorder of the blood vessels. About a hundred cases have been recorded worldwide since the condition was first identified in 1972, so Lucky has really worked hard to come up with something obscure. The marks will fade within the next two years, so the blood vessels themselves are no big deal. However,

Approximately 50 percent of affected individuals have additional associated abnormalities including pink or dark red, irregularly shaped patches of skin (nevus flammeus); loss of muscle tissue (wasting) on one side of the body (hemiatrophy); elevated fluid pressure within the eye (glaucoma); and/or undergrowth (hypotrophy) of one leg. A distinct subdivision of CMTC has been identified that is known as macrocephaly-CMTC. In M-CMTC, the skin abnormalities of CMTC occur in association with an abnormally large head (macrocephaly) and the potential development of neurological abnormalities. Most cases of CMTC and M-CMTC occur randomly for no apparent reason (sporadically).

Fifty percent. A coin toss.
Prayers to your gods or goddesses for my beautiful baby.


13 comments:

Lizzie said...

I'm so sorry that you are dealing with something so scary. Holding you in my heart, offering prayers. Do they have anyway of knowing in advance if the more severe symptoms will emerge? Sending love and calm.

enoughgrows said...

Poor baby, poor you. Sending wishes and hopes and luck that lucky is in the lucky 50%.

Also sorry that I don't comment as often as I read-plan to resolve that too.

ThirdCat said...

Oh. It's awful, so awful to get bad news about your baby.
I will indeed send prayers for all of you.

Anonymous said...

Hi, I can imagine that would freak you out, but from photos she doesn't look like she has macrocephaly and from my reading of the medical paper, it sounds like a lot of the other abnormalilties are present when the skin condition is found, so L doesn't have them. Have you been referred on to someone else or do you just go back to the skin doc for follow-up?
Suze

Elsewhere007 said...

Oh dear. I'm really sorry to hear that. Stats are just stats tho -- if she's otherwise healthy, maybe her prognosis will be good.

E, M, and the Little Man said...

So sorry. I hope her blog name puts her in the good 50%.

tracer123 said...

She's a cutie, and I hope that none of that happens to her.

Mikhela said...

I'm feeling a bit calmer today - or maybe in denial? She IS healthy, so it is hard to credit that any of those things could possibly happen. Suze I think you are right - certainly the macrocephaly would be there at birth, and that, I think, would be the worst. We can't do anything about it anyway.

Lovergirl suggests that as the mark itself just looks like a weird birthmark, it's only the babies with the other issues who go to specialists, which would raise the odds - i.e. babies with only the mark don't usually come to the attention of specialists.

Anonymous said...

Cutis Marmorata Telangiectatica Congenita

Clinical Features in 35 Cases

Arjan C. A. Devillers; Flora B. de Waard-van der Spek, MD; Arnold P. Oranje, MD, PhD

Arch Dermatol. 1999;135:34-38.

Objective To evaluate the distribution of skin lesions, clinical features, and associated abnormalities in children with cutis marmorata telangiectatica congenita at onset and during follow-up.

Design Retrospective survey of the available medical data with an average follow-up of 1 year 5 months (range, 0-7 years).

Setting Pediatric Dermatology Unit (Department of Dermatovenereology) of the Sophia Children's Hospital in Rotterdam, the Netherlands.

Patients The diagnosis of cutis marmorata telangiectatica congenita was clinically established in 35 patients between July 1988 and February 1997. In 33 cases, the typical mottled, blue-violet pattern was present from birth and was readily visible at rest. In 2 cases, the skin lesions initially appeared less reticulated, mimicking a capillary malformation.

Results The skin lesions were almost generalized in 4 children (11%), whereas they were more localized in the other 31 children (89%). Associated anomalies, usually minor and sometimes questionable, were noted in 80% of the patients. Most patients showed a definite improvement of their mottled vascular skin lesions within 2 years. The lesions had totally disappeared, or only faded residual lesions remained.

Conclusions We believe that cutis marmorata telangiectatica congenita is a relatively mild condition. The prognosis is usually good, with minor associated anomalies. Improvement of the mottled, vascular pattern is usually observed within 2 years. We recommend careful clinical examination of all patients to exclude any associated anomalies. Patients should be referred to a neurologist or an ophthalmologist only if symptoms are present or if vascular lesions are present around the eyes.


From the Department of Dermatovenereology, University Hospital Rotterdam, Rotterdam, the Netherlands.

Mikhela said...

Oh bless you - that's very reassuring.
I presume that's you Suse?
Thanks.

Kelly & Sam Pilgrim-Byrne said...

We are so sending our love to you all at the moment...

Lily's Mom said...

I ran into your blog while googling about CMTC - our 13-week old daughter has a preliminary diagnosis of CMTC, though it's over most of her left side from the shoulder down. It's faded some since she was born, but still is quite prominent on hr hand especially. As you mentioned, they do say it fades for most kids within the first 2 years. We have to take her in for an MRI/Angiogram later this month to rule out M-CMTC (though there's absolutely no evidence of it) and to make sure there aren't any internal issues with the veins.

I think you're on target though that a lot of the "associated abnormalities" are reported because it's so likely to be misdiagnosed as just regular cutis marmorata or just some discoloration that is fine since it fades.

Our daughter also has a small lump on her wrist that might be a venous malformation and a couple of tiny cysts that we noticed a few weeks ago. She defnitely does have a less muscular left arm and leg (the side with the CMTC) but we're not too concerned (haha, no more than any other first-time parents) since she's ahead of her milestones and is otherwise a pretty happy baby.

Anyhow, more thanyou probably ever wanted to know about us, but just letting you now there are others of us out there hitting a lot of the same issues.

Mikhela said...

Hi Lily's mom, great to hear from you. I tried to go to your blog but I have to be invited - would you like to invite me? Lucky is very happy and bright and exceptionally clever, we think - so there have been no impairments so far. I bet Lily is gorgeous too. It'd be great to see how you are going. One of the things I think about now is the self-esteem issue - how we will help her, as she gets older, be confident in the face of any odd looks and insensitive questions she might get.