bony tumors/cysts

[kim]

Sunshine & tlkinster

 

I'm wondering if either of you could tell me if your kids have any birthmarks or unusual skin discoloration/ moles?

 

bmom, I think you said it was your husband with the benign bony tumor? Does he have any of these things (that he wouldn't mind you sharing)?

 

I've been diligently searching for a new way to go I think I found it!

 

 

 

http://en.wikipedia.org/wiki/CNTNAP2

 

Contactin associated protein-like 2, also known as CNTNAP2, is a human gene.[1] This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons and associated with potassium channels. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.[1] CNTNAP2 has recently been associated with autism spectrum disorder.[2][3][4

 

 

 

Cntnap2 is disrupted in a family with gilles de la tourette syndrome and obsessive compulsive disorder

 

1 Annemieke J. M. H. Verkerka, Carol A. Mathewsb, Marijke Joossea, Bert H. J. Eussena, Peter Heutinka, Ben A. Oostra, and the Tourette Syndrome Association International Consortium for Geneticsa

a Department of Clinical Genetics, Erasmus MC, P.O. Box 1738, 3000 DR, Rotterdam, The Netherlands

b Neuropsychiatric Genetics Group, Department of Psychiatry, University of California at San Diego, La Jolla, CA 92093-0810, USA

Received 19 September 2002; accepted 26 March 2003. ; Available online 13 May 2003.

 

http://www.sciencedirect.com/science?_ob=A...bf10952d5ad506c

 

Abstract

Gilles de la Tourette syndrome (GTS) is a sporadic or inherited complex neuropsychiatric disorder characterized by involuntary motor and vocal tics. There is comorbidity with disorders like obsessive compulsive disorder and attention deficit hyperactivity disorder. Until now linkage analysis has pointed to a number of chromosomal locations, but has failed to identify a clear candidate gene(s). We have investigated a GTS family with a complex chromosomal insertion/translocation involving chromosomes 2 and 7. The affected father [46,XY,inv(2) (p23q22),ins(7;2) (q35–q36;p21p23)] and two affected children [46,XX,der(7)ins(7;2)(q35–q36;p21p23) and 46,XY,der(7)ins(7;2)(q35–q36;p213p23)] share a chromosome 2p21–p23 insertion on chromosome 7q35–q36, thereby interrupting the contactin-associated protein 2 gene (CNTNAP2). This gene encodes a membrane protein located in a specific compartment at the nodes of Ranvier of axons. We hypothesize that disruption or decreased expression of CNTNAP2 could lead to a disturbed distribution of the K+ channels in the nervous system, thereby influencing conduction and/or repolarization of action potentials, causing unwanted actions or movements in GTS.

[tlkinser]

Hi Kim!

I desperately want to understand the articles in your post, but I can't! I have read them over and over and I might as well be reading Chinese. After you're done with your research, will you please interpret for me?

 

To answer your question about my son, he really doesn't have any large moles, but he is freckled. He has fair skin, blue eyes and red hair (we were shocked when we saw that red hair! lol). He is only 5 1/2 and the freckles that now cover his cheeks and nose didn't start appearing until he was 3. Every year, he gets more of them and I can already see that some of them will get larger and turn into moles. He does get red splotches at times which I now think are linked to his diet. The cyst on his wrist literally appeared overnight right after he learned how to ride his 2-wheeler last summer. He has an unusually high tolerance for pain (can walk across pavement barefoot in the hot FL sun without flinching while all of the adults around him are running/hopping and yelling that their feet are burning), and I was SURE that he had broken his wrist the day before while riding (falling off) his bike and I just didn't notice. I was really freaking out but he assured me that it didn't hurt and he was able to bend his wrist in all directions.

 

Good luck with your research! Please let me know what you discover. I am in awe of the articles that you post and interpret for the rest of us. You were the one sitting in the front of the class while I was moaning in the back about it being too early. Now I'm just too tired and have lost too many brain cells to Chardonnay to make sense of anything that I have to reread more than twice.

 

tlk

[faith]

Hey Kim,

I'm a little intrigued in what you are looking at. However, can't say I understand it, but I think I may have something to add. The stuff you linked doesn't seem to mention anything about cysts or birth marks, at least in English, ha ha, but could you explain a little further what this may have to to with TS?

 

What I can tell you is that my father had what we always called "fatty tumors", and lots of them. I mean I remember them being on his arms and abdomen. They were benign and they were always there from when I was a child. He did have one removed because it was on top of his head. Aside from that it was a benign issue. He is deceased, so I can't get much more info about his family, they are pretty much all gone.

 

Also, why were you inquiring to those specific posters?

 

Again, I can't quite grasp what this could mean, but I'd sure like to know. Thanks

 

Faith

[colleenrn]

I have two port wine stains that I have had since birth (I am 37) and I believe all four of my children do also. My 2nd child has several cafe late marks and a strange raised are (flesh colored with bumps) that he has had since close to birth. I have showed it to several doctors, including dermatologists who all have no idea what it is. My daughter has some weird moles/marks. All of my children freckle extremely esily once they pass their 4th birthday. I am really curious how this could be linked, but I also don't understand the link in the articles you posted. Thanks, Colleen

[Calicat]

Hi Kim and all,

My daughter has a few tiny moles (not raised), which will surely increase as her dad has many and so does my mother. She is also itchy a lot! Not all over, but in different areas of her body on different days.

 

As for me, I have a few non-raised small moles, and one raised one under my hair on my scalp. Or maybe it is not a mole; not sure what it is, but it is quite red in colour. I have one tiny skin-flap on my neck. My mom has a few skin flaps and my grandpa did, too. I also have an area on my neck, about 1 1/2 inch in diameter, that has no pigment, so if I get a bit of a tan or a burn, you can see this area that has no colour at all.

 

I have no idea what all of this means or could mean, but just thought I'd share my experiences of "skin things" to add to the data here.

 

P.S. I had a significant benign cyst in my lower abdomen... can't remember exactly, but I think it was in/on/near ??? my uterus. It was about 15 years ago, so I don't remember the details. And now I have recently found a lump in my breast, which will hopefully also turn out cyst-like and benign!

 

Calicat

[kim]

Calicat,

 

I'm so sorry that you are dealing with the scare that any type of a lump brings until it's fully investigated. Please keep us updated and know hugs and prayers are with you!

[kim]

edit

[bmom]

Im sorry it took me awhile. Somehow I missed this one, but it now has me interested and nervous as my son has 3 cafe latte spots on him. I can't figure out what you are posting, but please let me know if you figure it all out. I havent noticed my husband to have a birthmark of any sort, yet he has the bony tumor.

[kim]

bmom,

 

Please don't be nervous. I have not found anything here, so far, that suggests that our children or family members are more at risk for any serious disease if they do turn out to have these mutations. I guess maybe there could be a higher risk...but it would take the involvement of other genes or enviromental factors to change these things from a rather benign nature to something more serious. Please remember that this is simply my interpretation, and saying I'm understanding these concepts would be a gross overstatement. I am only posting things for discussion and in the hopes that others will lend their thoughts. I don't want to be viewed as any authority here. I think i'm on to something, then I'm really glad that I didn't post it, because I was totally misunderstanding it. I have burned through subjects that would probably takes months/years of studying to truly have any real understanding of!

 

 

This is a quote from the link above and is clickable on the nervous tissue

In humans, epithelium is classified as a primary body tissue, the other ones being connective tissue, muscle tissue and nervous tissue.

 

http://en.wikipedia.org/wiki/Nervous_tissue

 

 

This is one of the most helpful sites I found regarding Heperan Sulphate

 

http://www.nature.com/nature/journal/v446/...ature05817.html

 

Heparan sulphate proteoglycans reside on the plasma membrane of all animal cells studied so far and are a major component of extracellular matrices. Studies of model organisms and human diseases have demonstrated their importance in development and normal physiology. A recurrent theme is the electrostatic interaction of the heparan sulphate chains with protein ligands, which affects metabolism, transport, information transfer, support and regulation in all organ systems. The importance of these interactions is exemplified by phenotypic studies of mice and humans bearing mutations in the core proteins or the biosynthetic enzymes responsible for assembling the heparan sulphate chains.

 

This diagram from figure two in above article was cool. The extracellular matrix is the "floor" that you would see outside of the cell if you were looking down a microscope. This was nice to find as I had no idea

 

http://www.sciencedirect.com/science?_ob=A...4cd21dd7d65b2b1

[bmom]

ok, I still am trying to figure it all out- with a busy 3 yearr old on my lap. I am just glad Kim is "on our team". anyway, the only other thing that jumped at me was the heparin regulating thing. It talks about this gene being responsible for that and I know I have seen people talk about a blood clotting disorder on this forum as well. I have that and had to take heparin when pregnant. My poor children possibly got the screwed up genes from both sides. My sister also has it and her son was born with a raised red birthmark on top of his head. Just throwing out any info which I hope helps.

[P_Mom]

No, we don't hate you!! Quite happy we have someone like you to give us all this info., I just wish I had the ability to wrap my brain around it all!

[kim]

Thanks DKRE! I so envy parents who can pull off a concise post. I have to ask 'why" to every bit of info that I find, and I end up trying to unravel the world.

 

bmom

 

Do either of these things sound familiar in regards to you/your sister?

 

Factor V Leiden and MTHFR (Faith...I'm thinking of you)

 

antiphospholipid antibody syndrome

[bmom]

Just to clarify, after thinking about it, my husbands is not a bony tumor, but a fatty tumor on his back. It is not located near a bone. My sister was diagnosed with Factor V. Mine was diagnosed as the antibody one. I always found that suspicious as I thought they were one in the same problem.

[tlkinser]

Thanks DKRE! I so envy parents who can pull off a concise post. I have to ask 'why" to every bit of info that I find, and I end up trying to unravel the world.

 

bmom

 

Do either of these things sound familiar in regards to you/your sister?

 

Factor V Leiden and MTHFR (Faith...I'm thinking of you)

 

antiphospholipid antibody syndrome

 

 

Hi Kim and bmom,

I have antiphospholipid antibody syndrome and took heparin and/or lovenox while pregnant with my three children (also had 2 miscarriages). This is why I'm thinking my ds got the double whammy from both of us- my auto-immune disorder coupled with dh's "tics" that he had has a child (nothing that was ever diagnosed or that ever interfered with his daily life; he has just now realized that he might have had something similar to ds on a lesser scale when he was younger. I have never seen any sign of tics in the 10 years that we've been together.).

 

Kim, does this mean anything?? You are so smart and I am so thankful to have you on "my team".

 

Thanks,

tlk

[Sunshine]

Hi everyone,

 

I'm sorry that I have not checked in for a while. This topic looks very interesting. It's a lot to get my head wrapped around, but I'm intrigued nonetheless.

 

Both of my kids have birth marks, as do I. My daughter and I each have one very small and super light cafe au lait spot, not at all noticeable to anyone. My son has a little red splotch about the size of a pea (also not noticed due to location). His doctor said to keep an eye on it as he grows, but it hasn't changed since birth. Actually, none of our marks change or ever cause us any issues (that I'm aware of!).

 

We do have a history of Factor V Leiden on my husband's side, although he tested clear.

 

My son has no MTHFR abnormality. He is the only one in the family who has had any kind of tumor. As well, none of us have ever had cysts.

 

My son continues to do incredibly well.

 

Cheers,

Sunshine