Cutis aplasia, or aplasia cutis congenita, is a rare condition that is present at birth and characterized by an absence of skin, most commonly affecting the scalp. It typically occurs as an isolated event but can occur with other lesions. The cause of the condition can be attributed to many factors, including:

  • genetic mutations
  • exposure to certain harmful substances during pregnancy
  • compromised blood flow to the scalp
  • trauma

Symptoms

Affected individuals will have a portion of skin missing from their body, most commonly on the scalp, but also on the trunk and limbs. In more severe cases, portion of the bone may also be missing in the same location. Individuals with cutis aplasia may also suffer from congenital malformations of the intestine, heart, urinary tract and nervous system.

The area of missing skin can vary in size from a few millimeters to 10 centimeters or more across. Typically, just the top layer of skin (epidermis) is affected, but occasionally the underlying layers (dermis and subcutaneous) are also affected.

Diagnosis

Diagnosis occurs at birth through a physical exam and identification of the missing skin and possibly skull bone, resulting in exposure of the brain.

Treatment

Considering the important protection skin provides, treatment is typically carried out early in a child’s life, right after a diagnosis is made. Sometimes, mild cutis aplasia can be treated by dressing the open wound and waiting for the body to naturally heal itself. In more severe cases, such as when brain tissue is exposed, surgery involving bone and skin grafts is required. The goal of these treatments is to prevent infection, bleeding, and the leaking of cerebral spinal fluid. Depending on the severity of the cutis aplasia, further surgeries to reconstruct the skull and skin through growth may be performed as your child grows.

Our team at the North Carolina Cleft and Craniofacial Center includes dermatologists, genetic specialists, and plastic surgeons. They can provide comprehensive care through surgery, reconstruction, therapy and future checkups.