Aplasia Cutis Congenita Meaning, Definition, Symptoms, Causes, Types, Treatment

Content:

• What is Aplasia Cutis Congenita?
• Aplasia Cutis Congenita Meaning
• Aplasia Cutis Congenita Definition
• Aplasia Cutis Congenita Symptoms
• Aplasia Cutis Congenita Causes
• Aplasia Cutis Congenita Types
• Aplasia Cutis Congenita Treatment

What is Aplasia Cutis Congenita?

Aplasia Cutis Congenita (ACC) is a rare congenital condition characterized by the absence of skin at birth. It most commonly affects the scalp but can also occur on other parts of the body, such as the trunk or limbs. The affected area may appear as a small, well-defined ulcer or a larger missing section of skin.

Aplasia Cutis Congenita Meaning

Aplasia Cutis Congenita (ACC) is a rare congenital condition where a baby is born with an absence of skin in certain areas, most commonly on the scalp. The term itself means "congenital absence of skin," with "aplasia" referring to the failure of tissue development, "cutis" meaning skin, and "congenita" indicating it is present from birth. 

The affected area may appear as a small ulcer or a larger skin defect, and in some cases, underlying structures such as the skull or soft tissue may also be involved. The exact cause of ACC is not always known, but it can be linked to genetic factors, prenatal disruptions, or syndromic associations. Treatment depends on the severity, with small defects healing on their own, while larger lesions may require medical intervention, such as skin grafting or surgical repair.

Aplasia Cutis Congenita Definition

Aplasia Cutis Congenita (ACC) is a rare congenital disorder characterized by the absence of skin at birth, most commonly affecting the scalp but sometimes occurring on other parts of the body. The condition may present as a small ulcer-like lesion or a larger skin defect, and in severe cases, underlying structures such as the skull or soft tissue may be exposed. 

The exact cause is not always known, but it can be associated with genetic factors, prenatal disruptions, or syndromic conditions. Treatment varies depending on severity, with minor cases healing naturally and larger defects requiring medical intervention such as skin grafting or surgery.

Aplasia Cutis Congenita Symptoms

Aplasia Cutis Congenita (ACC) is a congenital condition characterized by the absence of skin in certain areas at birth, most commonly on the scalp but sometimes on other parts of the body. The primary symptom is a well-defined skin defect, which may appear as a small, shiny, membranous patch or a larger ulcer-like lesion. 

In severe cases, underlying structures such as the skull, soft tissue, or dura mater may be exposed. A distinctive feature called the "hair collar sign," where thick, dark hair surrounds the lesion, may indicate deeper abnormalities. 

Aplasia Cutis Congenita Causes

Aplasia Cutis Congenita (ACC) is believed to result from disruptions in skin development during fetal growth, though the exact cause is not always known. Genetic factors play a role, with some cases being inherited in an autosomal dominant or recessive pattern, while others occur as part of syndromes like Adams-Oliver syndrome. 

Vascular disruptions, such as reduced blood supply to the skin due to placental insufficiency or amniotic band syndrome, can also lead to skin defects. Exposure to teratogenic substances, including certain medications like methimazole, toxins, infections, or radiation during pregnancy, has been associated with ACC. 

Aplasia Cutis Congenita Types

Aplasia Cutis Congenita (ACC) is classified into nine types based on the location, extent, and associated abnormalities.

💧Type 1 (Scalp ACC without defects):

The most common type.

Affects only the scalp with no underlying bone or brain involvement.

💧Type 2 (Scalp ACC with skull or dura involvement):

The skin defect extends to deeper layers, involving the skull bone or dura mater.

Often associated with the hair collar sign (thick hair around the lesion).

💧Type 3 (Scalp ACC with neural tube defects):

Occurs with brain or spinal cord malformations, such as encephalocele (herniation of brain tissue).

💧Type 4 (ACC overlying embryologic fusion lines):

Found along midline structures (scalp, face, or body).

Often linked to spinal dysraphism (defects in spinal cord development).

💧Type 5 (ACC associated with fetal skin disruptions):

Related to amniotic band syndrome or trauma during pregnancy.

Irregular skin defects often on the limbs, trunk, or scalp.

💧Type 6 (ACC with epidermal/organ defects):

Seen in genetic syndromes like epidermal nevus syndrome.

Affects skin along with brain, eyes, or other organs.

💧Type 7 (ACC on extremities with limb defects):

Associated with Adams-Oliver syndrome, affecting the scalp, limbs, and blood vessels.

💧Type 8 (ACC linked to specific syndromes):

Found in conditions like trisomy 13, trisomy 18, and Johanson-Blizzard syndrome.

May involve multiple body systems.

💧Type 9 (ACC due to teratogens or infections):

Caused by drug exposure (e.g., methimazole), toxins, or infections (e.g., varicella).

Aplasia Cutis Congenita Treatment

The treatment of Aplasia Cutis Congenita (ACC) depends on the size, depth, and location of the lesion, as well as any associated complications. In mild cases where the skin defect is small and superficial, conservative management is often sufficient. This includes wound care, keeping the area clean and protected, applying topical antibiotics to prevent infection, and using non-adherent dressings to promote healing. Many small lesions heal naturally within weeks or months, leaving behind a scar.

For larger or deeper lesions, especially those exposing the skull or underlying tissues, surgical intervention may be necessary. Skin grafting can help cover large defects, while scalp rotation flaps may be used if the lesion involves significant skin loss. In cases where the skull is affected, bone repair or neurosurgical procedures may be required to protect underlying structures.

Preventing infection is crucial, as open wounds can be prone to bacterial infections. Regular monitoring and, if needed, systemic antibiotic therapy help prevent complications. Long-term follow-up may also be required for deep or slow-healing lesions.

If ACC is associated with genetic syndromes such as Adams-Oliver syndrome or Trisomy 13, treatment may also involve managing additional congenital abnormalities, including limb defects, neurological conditions, or vascular issues.