Why does it occur?

It is not yet fully known why aplasia cutis occurs but the following factors may be involved:

Genetics
Teratogens (drugs or chemicals causing birth deformities)
Defect in skin development in the embryo/fetus
Early rupture of amniotic membranes
Aplasia cutis affecting the limbs may be associated with the death of a twin fetus (papyreous fetus)

No one particular race or sex is more at risk.

What else do we know about Aplasia Cutis?

Aplasia cutis (sometimes called ‘aplasia cutis congenita’) is a condition where a newborn child is missing skin from certain areas. In about 70% of cases it is a single lesion on the scalp, but sometimes multiple lesions may appear on other parts of the body. They vary in size from 0.5cm to 10cm.

Lesions that involve only the epidermis (upper layers of skin) are shallow and usually heal over with scarring before the child is born. A deeper lesion involving the dermis, subcutaneous tissue, or rarely, the skull may be ulcerated.

Membranous aplasia cutis is the term used when there is an underlying flat, white membrane, which overlies a defect in the skull. It can be associated with a neural cranial tube defect (encephalocoele or meningocoele), which can be demonstrated by ultrasound scan showing misplaced brain tissue outside the skull.

Consultation

Our son is booked in for a consultation at the Brisbane Royal Childrens Hospital on the 12th August.

Let's see what it brings.

Red Mark

My son has a red mark over his Aplasia Cutis, it looks like a cross between a burn scar and excema. I have started putting Bio Oil on it to see if it makes any difference...

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!