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371980 tn?1276744409
Aplasia Cutis Congenita
Has anyone ever heard of Aplasia Cutis Congenita? Or even know of someone who has this? I am desperate  . My daughter was diagnosised with this in Jan. 2005 at the age of 15 months. She has had 2 major surgeries to correct some things but now there are some things going on with her and since ACC is so rare the doctors are not sure what is going on or what to expect in the future. Someone else in my shoes would help a great deal.
Thanks in advance.
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371980 tn?1276744409
Anyone?
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I have this condition.  I was born with a rather severe form of it which included part of my skull missing.  This resulted in me having to have a bone graft (taken from my ribcage), skin grafts and various operations to stretch skin which had hair on to it on to areas that had been left bald by the skin grafts.  Eventually when I was 12 years old the surgeon used skin expanders (one in each side of my skull) to expand the skin over 13 weeks (think they injected them with saline) so that when they took them out there was a mass of skin with hair to stretch over the remaining bald patch.  This covered about half of it and I am now left with a patch at the back which is covered by the fact that my hair is straight and shoulder length so unless the wind blows no one really notices it.  I had the option to have the skin expanders again but by this time I was eager to get on with my life and give hospitals a miss!  I live a full and healthy life and this condition has had no long term effects on my life apart from having being a great conversation topic in the pub when people say WHAT!!! The only thing I find difficult is making people believe it because as you have probably found there arent many of us around.  Hope ur daughter is okay - would have replied sooner but I've only just found this site.  xx
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371980 tn?1276744409
Thank you for responding. My daughter was born with a severe form of it also. She had 2 large holes in the skull, the bigger  on the top and a smaller one in the back. She also had no skin just scar tissue covering the entire top of her head. At 18 month she went threw the skin expansion process. 2 large expanders in her head that were filled with the saline once a week for 16 weeks. Then the final surgery when they did the skull grafting and removal of the scar tissue and pulle all the expanded skin together. the surgeon did a great job and i am learning how to cover the scar lines while doing her hair. Glad all of that is in the past. As you said there are not many ACC patients out there so as far as the future goes I have so many questions that the doctors just cant answer. Kind of a learn as you go process. Dont ;like it but what choice do we have....right??? Thank you again!
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My daughter was born with two small areas next to one another in the back of her head.  Thankfully she never had to go through any surgeries or such for it.  In time it was thicker, although hairless.  I am so sorry you have both had to go through that though.  I am here because I am trying to see if there could be any link between ACC and EDS (Elhers Danlos Syndrom).  If you have any info on this, please let me know.  
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my son was born in july 09 with aplasia cutis and had a hole in his head, now 8 surgreys later and 5 months later he is still have the hole, how can they fix that cuz the doctors dont have a clue. anyone with answers please e-mail me at shell_mlh***@**** and for subject put aplasia cutis so i wil open that e-mail.. please help me,and my baby
thank you
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My daughter was also born with ACC 8 years ago. She did not have a hole in her skull just an ulcerated lesion on the top of her scalp. She too went through the skin expanders then surgery at the age of 3.  Come to find out, my husband is the carrier. He has a series of small scars on his scalp AND he is missing 1 joint in all of his toes. My husbands father also has a series of scars on his head as well. When I got pregnant with my son, I went to a genetic doctor and he had said only the carrier can pass it on. My daughter will have a 50% chance of having a child afflicted with this, since my son didn't have it, he cannot pass it along. I hope this helps.
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1041839 tn?1278685446
I dont mean to contradict your dr but my middle child has cutis aplasia but my other two dont. What our dr told us was that if two people who have the recessive gene for this have children there is a possibility of having a child with aplasia cutis. She also said she has never seen it happen twice in the same family! My daughter's is on her scalp which we have had 4 surgeries. She also has places on her sides and knees. Blessings, Shannon
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1041839 tn?1278685446
I don't know if there is a connection between the two but there is a good chance i have EDS. I will find out in feb and that is something I intend to ask the dr. I will let you know! Blessings, Shannon
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I am on here looking for the connection between EDS and ACC as well.  My daughter (born on January 9th, by the way) was born with the same type your daughter has.  Thankfully she never has had to have surgery, just the two bald spots on the back of her head.  Myself, son and daughter all have another health problem that has lead her doctors to believe we all have a form of EDS.  I will be tested shortly to see if I do or not, but when I thought of her ACC, it made me curious.  I too wonder what the corilation is, if there is one.  Please keep the post coming if anyone has any more info. So sorry to hear that those with much more severe forms of ACC have had to endure so much,  Hang in there!!!
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I was reading your posts and looked up EDS.  My son who was born with ACC has very flexible joints. He has fine motor and coordination difficulties. I will look into the connection as well. Thank you for the information.
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My daughter and myself have ACC, they plastic surgeroen that I had now is retired and they nerosurgeon that worked on my daugther is retiring, she is 2 and will start her rounds of surgerys beginning of next year. What surgeons did you all go to, and where are they located. We are willing to travel to get her to a great one! Thanks for your help!!
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Hello, my 6year old son was born with acc. He has a bald spot in the middle of his head. He also has it on his arms, legs and butt. Its not that bad on those areas just the scalp. Its awful. Its huge but thankgod he has a head full of hair to cover it. Hes been to a surgeon for reconstructive surgery about it but the doctors are talking about skin expanders or getting 3 different surgeries to fix his scalp. I mean I just need to know is it a safe surgery? The doctor said no risks but im sure its always a risk when it comes to surgery. I just want to talk to anyone whos child has had surgery to correct acc. Thanks i read my email everyday so just send me a reply to ***@****
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THe site wont let me post my email address so can anyone just leave me a reply thanks.
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I highly recommend Richard A Bartlett. He's a plastic surgeon and has his own practice, but he's affiliated with Children's Hospital Boston. He has done hundreds of these surgeries, although most have been for birthmarks/hemangiomas. Even though it's for a different condition, the goal of the surgery is the same. Good luck!
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AOS
There is a new ongoing research study on aplasia cutis congenita at Harvard; more information on the aplasia cutis congenita blog in Facebook
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Hi Kimby2006 and anyone else who came across this site looking for a surgeon,

I highly recommend Dr. Richard Allen Hopper at Seattle Children's Hospital http://www.seattlechildrens.org/medical-staff/Richard-Alan-Hopper/

He specializes in rare face and skull surgeries.

My 17-month old son just had surgery a few days ago. His case was minor (knock wood). He had two blister-like spots that only went as far as the hair follicle, which they removed. Then the doctor sewed his skull back up. The stitches look perfect--like what you'd find on a baseball. Dr. Hopper wasn't kidding when he said this was routine; here's a 3-part article about a girl with Crouzon syndrome who he operated on in 2004: http://seattletimes.nwsource.com/html/localnews/2002090521_brennaface14m.html
However, he and his staff treated our son (and us) with the utmost care and respect. Everything went so smoothly. The followup appointment is in a few days.
If you decide to schedule an appointment, do it soon. We had to wait a couple months between the initial meeting and surgery.

Good luck to everyone and their kids!!!
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I read you comment, I believe my son has had this acc for 12 years.  but Im awaiting a dx for eds.  If you find anything let me know.  Or just to talk :)
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