Tuesday, July 15, 2008

Aplasia Cutis


Last week our son was diagnosed with Aplasia Cutis. We took him to see a Paediatrician as he has a large dent in his forehead with a mark over it. He has had this ding since birth; however it was not picked up when the Paediatrician on duty checked my son after birth. I’m going to use this blog to document our son’s Aplasia Cutis journey.

What is Aplasia Cutis?

Aplasia Cutis Congenita is a rare disorder with a complicated pattern of inheritance. Babies are born with the absence of certain layer(s) of skin, most often on the scalp, but also on the trunk, and/or arms and legs. The affected area is typically covered with a thin, transparent membrane.


Cutis aplasia represents congenital absence of all the skin layers, and it may occasionally extend through the bone and dura of the skull.

My son was also born with a skull defect. His skull did not form properly.

We are now waiting on a referral to see the Plastics unit at the Royal Children’s Hospital in Brisbane.

I have been searching for others born with this condition. But as it’s rare I haven’t really come across many. I did stumble across another lady who has a 5 year old who is just about to go into surgery. I am waiting for her reply.

I am hoping that by putting this blog out there, I can find other mums of children who have been diagnosed with Aplasia Cutis. Ultimately I would like to start a support group. So please, if you know of anyone please pass this link on to them!



5 comments:

Lindsay88 said...

Hi I just went to the dr. for my 11 month old daughter. She has had a spot on the top of her head since she was born. They just said it was probably from my cervix during birth. And it healed within a month and turned into a whitish scar with no hair. So I mentioned it to the dr. again today and she gave me a referral to a dermatologist at children's hospital to rule out aplasia cutis. So i came right home & looked it up. And most of the pictures online look just like what she has. Hopfully she just has this top layer lesion and there's no underlying problems. Im sort of nervous now and anxious to get to the dermatologist. What did they say about your son? Is this a serious condition at all? My email is giggles059@hotmail.com if you would like to email me. It would be cool to talk to you.
~Lindsay

Erik Yates said...

We just returned from a pediatric dermatologist appointment because our 7-week-old daughter has a 1 cm circular spot on her head that we felt was due to an impact from the amnio hook used to break my wife's water (she was overdue by 4 days).

A week ago, a plastic surgeon diagnosed the spot as a fatty necrosis. He was convinced it was damage from an impact.

The dermatologist today said that was not the case at all and diagnosed aplasia cutis--don't worry about it until she is older and you see how the hair is growing over it (there is currently no hair growing in it).

We're certainly relieved to know that this is something minor, but concerned about whether or not it grows in size as she ages. Any surgical solutions will certainly not be done until she is much older.

Thanks for posting about this. Good to know we can give each other related information.

Jen said...

Hello. We found out recently that our ~11 month son has cutis aplasia (approx 7 inches long). We have just returned from the an appt with the ped. plastic surgeon. I know he is going to be fine, but it still hard to hear that multiple surgeries are required. I would very much like to talk to another mom/family who going through the same situation.

Jen said...
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clareb1rd said...

My 19 month old daughter was born with a large patch of hair missing and parchment like skin on the back of her head. The bald spot is about 10cm across. We have a referral to the Childrens Hospital tomorrow. We've already seen a paediatrician and dermatologist elsewhere but they've referred us. Scared about what we're going to hear tomorrow...