Aplasia Cutis Congenita: An Overview

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Aplasia Cutis Congenita: A Comprehensive Overview


Aplasia cutis congenita (ACC) is a rare birth defect characterized by the absence of skin at one or more sites on the body. It can range from small, localized areas to extensive, life-threatening defects. ACC affects approximately 1 in 10,000 newborns, with a slightly higher incidence in females.


The exact cause of ACC is unknown, but it is believed to be a result of a disruption in the development of the skin during pregnancy. Several factors have been associated with an increased risk of ACC, including:

  • Genetics: Mutations in specific genes, such as SAMD9 and P63, can lead to ACC.
  • Maternal infections: Certain infections during pregnancy, such as varicella-zoster (chickenpox) and cytomegalovirus, can increase the risk of ACC.
  • Drugs and toxins: Exposure to certain medications, including methotrexate and isotretinoin, during pregnancy can also contribute to ACC.
  • Mechanical factors: Physical trauma to the developing fetus, such as amniotic band syndrome, can disrupt skin development.

Types of ACC

ACC is classified into various types based on its location and severity:

Localized ACC: This type involves small, isolated areas of missing skin, typically on the scalp, face, or trunk.

Extensive ACC: This type refers to large-scale defects involving multiple areas of the body, potentially including the limbs and vital organs.

Multiple ACC: This type is characterized by multiple, scattered areas of missing skin.

Membranous ACC: In this rare type, the skin is replaced by a thin, transparent membrane.


The symptoms of ACC vary depending on the size and location of the defects. Common symptoms include:

  • Exposed underlying tissues: Areas of missing skin reveal underlying tissues, such as bone, muscle, or blood vessels.
  • Bleeding and ulceration: Exposed tissues can easily become damaged, leading to bleeding and ulceration.
  • Infection: Open wounds are susceptible to bacterial infections, which can pose significant health risks.
  • Dehydration: Extensive ACC can lead to fluid loss and dehydration.
  • Neurological problems: Defects involving the scalp can affect brain development.
  • Cosmetic concerns: Localized defects can result in visible scars or disfigurement.


ACC is typically diagnosed based on a physical examination. However, additional tests may be necessary to rule out other conditions, such as:

  • Biopsy: A small sample of tissue from the affected area is examined under a microscope to confirm the diagnosis.
  • Imaging studies: X-rays or computed tomography (CT) scans may be used to assess the extent of the defects and any associated abnormalities.


The treatment of ACC depends on the severity of the defect. Mild cases may only require dressings to protect the exposed tissues. More extensive defects may require surgical intervention.

Surgical Treatment:

  • Skin grafting: This involves transplanting healthy skin from another part of the body to cover the affected area.
  • Local flaps: Nearby skin is rearranged to cover the defect.
  • Bioengineered skin grafts: Artificial skin substitutes can be used to create a temporary or permanent covering.

Other Treatments:

  • Antibiotics: Infections are treated with antibiotics to prevent their spread.
  • Pain medication: Analgesics may be prescribed to manage discomfort.
  • Wound care: Open wounds require regular cleaning and dressings to prevent infection and promote healing.
  • Nutritional support: Dehydration and electrolyte imbalances are addressed through intravenous fluids or feedings.
  • Psychological support: Parents and affected individuals may benefit from emotional support and counseling.


The prognosis of ACC varies depending on the severity of the defect. Isolated, localized cases typically have a good prognosis with surgical intervention. However, extensive defects involving vital organs or the brain can result in life-threatening complications or long-term disabilities.


There is no known way to prevent ACC. However, avoiding certain risk factors, such as maternal infections and exposure to harmful substances during pregnancy, may reduce the likelihood.


Aplasia cutis congenita is a serious birth defect that can have a significant impact on the health and well-being of affected individuals. Understanding the causes, symptoms, and treatment options is crucial for providing appropriate care and support. While the prognosis varies depending on the severity of the defect, early diagnosis and intervention are essential for improving outcomes.

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