Aplasia Cutis Congenita: Causes, Symptoms, and Treatment
Medically reviewed by Sumiran Racherla, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Aplasia Cutis Congenita?
A pediatrician (a doctor who treats babies and children) or a dermatologist (a skin doctor) leads care. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is aplasia cutis congenita?
Aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin, also called lesions. These areas look like open wounds. Sometimes they are already healed at birth. They usually leave a scar.
It affects about 1 in 10,000 newborns. In the nonsyndromic form, skin lesions are typically the only feature. Other skin problems and bone problems occur rarely.
Symptoms
Signs are present at birth or may start to appear during pregnancy. Common signs include:
- A single area of missing skin, most often on the top of the head.
- Lesions that are round, oval, rectangular, or star-shaped, and vary in size.
- Possibly no hair growth in the affected scalp area.
Sometimes the bone under the skin defect is underdeveloped too. When bone is involved, infections are a bigger risk. A severe defect on the head may expose the dura mater. This is the membrane that covers the brain. Then life-threatening bleeding may occur from nearby vessels.
Causes and who gets it
The cause is often unknown. The condition sometimes shows up in several family members. Experts think it has a genetic component. But the genes involved are not fully known. Most cases are sporadic. This means they happen in children with no family history. When it runs in families, it is usually autosomal dominant. That means one changed gene copy is enough. Rarely it is autosomal recessive, which needs a changed gene from both parents.
Some cases come from contact with a drug called methimazole before birth. This drug treats an overactive thyroid gland. Certain virus infections in the mother can also cause it. Other cases are thought to start with an injury to the baby during development. The skin lesions can also be one feature of other conditions. These include Adams-Oliver syndrome and Johanson-Blizzard syndrome.
How doctors diagnose it
The characteristic skin lesions can occur as one of many symptoms in other conditions. Collecting a family health history may help the medical team. It helps to know which family members have had the disease or similar symptoms, and when those symptoms first appeared.
Treatment
Care depends on how big the lesion is and whether there are problems under the skin. Small lesions, smaller than about 4 centimeters, are treated with daily cleaning and a protective ointment until the skin heals. They generally heal within weeks to a few months and leave a hairless scar.
Larger lesions are more often linked to problems under the skin. They carry a higher risk of bleeding, blood clots, and infection. Doctors advise early surgery for these, often with a skin graft or flap, which means moving healthy skin over the area. A scan such as an ultrasound or MRI may be used to look for problems under the skin. A team of specialists may help. Rare conditions often need several kinds of experts working together.
When to see a doctor
A baby born with an area of missing skin needs a doctor right away. Call 911 for heavy bleeding from the head. Life-threatening bleeding may occur if a severe defect exposes the covering of the brain. Severe defects have a higher risk of infections, so tell the baby's doctor right away about any sign of infection.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. This doctor can check a newborn's skin lesion, set up visits with specialists, and watch the healing scar over time. They can also help families gather a health history and set up genetic testing.
Common questions
Is aplasia cutis congenita dangerous?
Severe cases can be dangerous, but most affected babies have a single lesion that usually leaves a scar. The main risks are infection when bone and other tissues are involved, and life-threatening bleeding if the membrane covering the brain is exposed.
Will my child's hair grow over the scar?
Maybe not. When the scalp is involved, there may be no hair growth in the affected area.
Can it happen to another child in the family?
Sometimes. It can run in families, but most cases are sporadic, so they happen in children with no family history. When it runs in families, it is usually autosomal dominant. A person with an autosomal dominant condition has a 50% chance of passing the changed gene to a child.
How common is aplasia cutis congenita?
It affects about 1 in 10,000 newborns. How often the nonsyndromic form alone happens is unknown.
Sources
- MedlinePlus Genetics - Nonsyndromic aplasia cutis congenita
- NIH GARD - Aplasia cutis congenita
- NCBI Bookshelf - Aplasia Cutis Congenita (StatPearls)
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
