How is Aplasia Cutis Congenita (ACC) diagnosed?

Aplasia Cutis Congenita (ACC) is a rare condition characterized by the absence of skin at birth. It can occur anywhere on the body but is most commonly found on the scalp. The exact cause of ACC is unknown, but it is believed to be a result of a combination of genetic and environmental factors.

Diagnosing ACC typically involves a thorough physical examination of the newborn. The healthcare provider will carefully inspect the affected area and assess the size, location, and depth of the skin defect. They may also examine the baby for any associated abnormalities or underlying conditions.

In some cases, additional diagnostic tests may be ordered to confirm the diagnosis and rule out other potential causes. These tests may include:

• Ultrasound: This imaging test uses sound waves to create a detailed picture of the affected area. It can help determine the extent of the skin defect and evaluate the underlying structures, such as the skull or brain.


• X-ray: X-rays may be taken to assess the bones and soft tissues beneath the skin defect. This can help identify any associated skeletal abnormalities.


• Genetic testing: In some cases, genetic testing may be recommended to identify any underlying genetic abnormalities that may be contributing to the development of ACC.

It is important to note that the diagnosis of ACC is primarily based on the physical examination findings. The additional tests are usually performed to gather more information about the condition and to guide treatment decisions.

Once a diagnosis of ACC is confirmed, further evaluation and management may be necessary depending on the size and location of the skin defect. Treatment options may include wound care, surgical repair, or the use of protective dressings to promote healing and prevent infection.