Complex cutis aplasia is a disorder that occurs when babies are born without some layers of the skin. The affected areas usually include the scalp, the torso, and arms and legs. An area where some layers of skin are missing is usually covered by a thin, see-through membrane. It’s not uncommon for the skull to be visible. Complex cutis aplasia can occur by itself, or it may be a symptom of another disorder. People are born with it; it cannot be acquired. You may also hear it called aplasia cutis congenita.
Common symptoms of complex cutis aplasia include missing skin and hair on specific body parts. The bone may be missing in the affected areas.
These are usually the main symptoms of complex cutis aplasia. In rare cases, people may also have ears that didn’t develop properly, paralysis on one side of the face, a larger head than normal, and heart defects.
People get complex cutis aplasia when they inherit one or two copies of the disease gene from each parent. The two patterns of inheritance that complex cutis aplasia follows are autosomal dominant and autosomal recessive. “Autosomal” refers to the chromosomes that do not determine sex.
With complex cutis aplasia, if a child inherits one copy of the disease gene from one parent and one normal copy of the same gene from the other, this is called an autosomal dominant inheritance pattern, and the child will get the disease. However, if a child inherits two copies of the disease gene – one from each parent – it will still get the disease in this autosomal recessive pattern.
In some cases, a child may have no parents with the disease genes but may have a genetic mutation in their genes that causes the disease.
Risk factors are having family members with complex cutis aplasia.
Your child’s doctor will be able to diagnose them with complex cutis aplasia at birth due to the apparent absence of skin. Your doctor should thoroughly evaluate your child to determine whether the complex cutis aplasia is occurring on its own or a side effect of another medical condition.
Thorough medical evaluation and testing can help your doctor determine this, including genetic testing that can be done to confirm the presence of a disease gene for complex cutis aplasia.
Potential complications include infection in affected areas if scarring has not occurred and ulcers have formed. There is also a very small possibility of brain injury, depending on how exposed the brain is and if there is a lack of bone in any areas of the skull.
Treatment of complex cutis aplasia depends on the severity of the case. Appropriate wound care will help affected areas heal and prevent infection in less severe cases. In more severe cases, mainly when the brain is at risk, bone and skin grafts will cover and protect exposed areas.
Another treatment option later in life is reconstructive surgery. Bone grafts can be taken from the skull to cover exposed areas once wounds are healed. Other commonly done procedures include expanding the tissue around the scalp, removing any skin grafts placed right after birth, and replacing those by expanding scalp tissue that’s generating hair.
While there is no way to prevent complex cutis aplasia, couples who would like to start a family and either have complex cutis aplasia or have a family history of complex cutis aplasia may consider receiving genetic counselling.