Tuesday, July 15, 2008

Linear Nevus Sebaceous Syndrome, or, another order of noticing things

Update! I'm pleased to announce a new resource for linear nevus sebaceous syndrome, called LNSS Connections. The site introduces linear nevus sebaceous syndrome & related neurocutaneous syndromes, and links to a new support group for people dealing with LNSS. Please come check it out!


There's another layer to what we noticed when.

Joy was born with a visible sign of things to come, a blotch on her scalp -- that's a newborn photo at right.

On the first day, it was written off as maybe a scrape. On the second day, the word was linear nevus sebaceous. It was, we learned, a fairly common blip, a blotch of inappropriate dermal tissue packed full of oily glands -- hence the "sebaceous" -- on which no hair would grow.

JoyDad went online and found some rather scary pages about linear nevus sebaceous syndrome, accounts of kids born with nevi all over their faces who ended up with various combinations of other symptoms involved: blind, deaf, serious cognitive impairments, severe epilepsy. However, I don't remember him making a big deal of those findings to me, because the message we got from the doctors was that most such nevi have no further implications, beyond the cosmetic issue and a somewhat elevated chance of pre-cancerous changes further on down the road. The nevus wasn't even expected to grow, beyond just keeping up with her head. (Nine-months photo above left; the blotch was peach-colored most of the time, turning bright pink when the rest of her face went red, as in a crying jag or the like.)

We consulted with a pediatric plastic surgeon, who ended up doing three outpatient surgeries over the course of a year, the first when Joy had just turned one. No complications from the surgeries, other than a scar that her hair grew to cover, with a promise of potential scar reduction surgery some years later.

The seizures started between the second and third surgeries, at age 15 months, summer of '05. They deserve a post on their own, so I won't go into a lot of detail except that we have an excellent pediatric neurologist, who even happens to be a fine Boggle player! He first floated the idea that the epilepsy and nevus might be related in summer of '06, but in such a low-key way that we didn't really glom onto it and press him for more details and a definitive diagnosis of linear nevus sebaceous syndrome (LNSS) until November of that year.

LNSS is a rare congenital disorder that was first identified in 1957 and then independently in 1962, and is also known as Feuerstein-Mims-Schimmelpenning Syndrome. My understanding is that it's rare to the point that the number of cases in the US numbers in the 100s. It's a genetic disorder but a mosaic one, so it's only happening in the affected areas rather than systemwide and there's no blood test for it. The classic triad of symptoms are the nevus (check), epilepsy (check), and cognitive issues (check). It can also, however, include a whole slew of other systems such as eyes, ears, skeletal, and genito-urinary, and sometimes a diagnosis will be made if one of the triad is missing but some of the others are present.

We are fortunate that Joy seems to have the classic triad, and nothing else. She's seen a geneticist, had her eyes checked (one of the most stressful doctor visits we've ever had, but that's another story), and had her hearing checked (inconclusive because she has the attention span of a gnat, but we don't have any evidence for being concerned).

For Joy, LNSS makes sense as an umbrella diagnosis that more or less explains all the rest, including the autism. However, it doesn't give us much guidance as to what to DO about any of it...

I'd link to a good summary site, except I haven't found one that I liked recently! There isn't even a Wikipedia entry, for cryin' out loud. I haven't found an online support group specific to LNSS either, though there is an Epidermal Nevus YahooGroup that gets sporadic traffic, where a variety of kinds of nevi are included and only a few of the participants are dealing with the syndrome beyond just the nevus. Maybe there's a mission for me in that lack of information, at some point.


tmhighsmith said...

Hi, My name is Teresa HIghsmith and I have a daughter, Ashley who is now 22 years old. She was diagnosed with LNSS in 1986 when she was a month old. It rare and I enjoyed your blog because I don't remember ever finding someone with a similar story. Anyway, Ashley had intractable seizures by the time she was 19 months old, a lefr side weakness ad severe developmental delays. She ended up having a hemispherectomey by Dr. Ben Carson at Johns Hopkins in 1987 and was seizure free for 4 years, after that she has had to be on seizure meds, had shunts, some plastic surgery on her lip, but is otherwise a miracle. She's still very young mentally but walks, talks and reads like a champ. my email is tmhighsmith@bellsouth.net if you want to get in touch.

Anonymous said...

Hi, my 5.75 month old daughter was just seen by a neurologist due to stiffness. The neurologist did notice she has a weaker left side. As the appointment went on we told her about her linear sebaceous nevus on the right side of her face, and instantly said she needed an MRI. My question to you is, as I cannot get a hold of the neurologist today, will the MRI tell us if she has LNSS? I am a little worried now. Thank you so much for your blog. I would love for you to email me, but am a little weary of putting my email out there for all to see. Maybe I can email you?

JoyMama said...

Hi Anonymous! Absolutely, please do e-mail me: ElvisSightings@gmail.com

Meanwhile, I can tell you that Joy's MRI was actually normal (though her EEG was not), so MRI results plus the nevus doesn't necessarily make an LNSS diagnosis one way or the other... Will be glad to talk more via e-mail. I'm no medical professional, but I'm happy to share what I know.

JoyMama said...

An additional note to anyone who's reached this page via Google -- I know this blog post comes up high in the rankings when the search is "linear nevus sebaceous syndrome"! There's so very little useful information on LNSS on the web at this point. I am starting a project next month to put together a support group and informational web pages aimed at individuals & families dealing with LNSS. Then hopefully that will rise to the top of the search rankings, and we can begin to build strength in numbers. Meanwhile, though, please do leave a comment or send me an e-mail: ElvisSightings@gmail.com

I promise I'll write back. It's better to be together than alone!

Anonymous said...

Hi I am reading your page with amazement. Im not sure but it is ringing bells with me.....is it possible I can contact you directly to ask some questions and even send you a pic of my boys "marks". I have 5, all have "marks" and either autism, developmental delays, intellectual disabilities or similar with other things....Im curious now!

JoyMama said...

Anonymous@4:55am - please do e-mail, I'll be glad to talk (with the caution that I'm not a doctor by any means!) Address is: ElvisSightings@gmail.com

pixiemama said...

Hey -
I didn't know Joy had this - had never even heard of it until your post today. You really hit the nail on the head by saying the diagnosis explains things but offers no earthly idea what to do about the problems. No kidding, huh?


Unknown said...

So interesting. My son, almost 13 years old, was born with a similar nevus. He was diagnosed with autism (regressed but not a totally typical development) at 2. Diagnosed with LNSS at 3. Possible Long QT at 10 and at 11 we figured out he has anhidrosis. Working with a geneticist but someone can find a link...we just know there is something that is connecting it all.

One day we will figure out exactly what our kids have...

Best of luck!