Which are the symptoms of Aplasia Cutis Congenita (ACC)?

Aplasia Cutis Congenita (ACC) is a rare condition characterized by the absence of skin at birth. It is a congenital disorder that can affect various parts of the body, most commonly the scalp. ACC can present with a wide range of symptoms, depending on the severity and location of the skin defects.

The most common symptom of ACC is the presence of localized skin lesions or missing patches of skin. These lesions can vary in size and shape, ranging from small, well-defined areas to larger, irregularly shaped defects. The affected areas may appear as shallow ulcers or open wounds, exposing the underlying tissues such as bone or muscle.

In some cases, ACC may be associated with other congenital abnormalities or syndromes. These additional symptoms can include:

• Limb abnormalities: Some individuals with ACC may have missing or malformed fingers, toes, or limbs.


• Scalp defects: When ACC affects the scalp, it can lead to hair loss or thinning in the affected area.


• Facial abnormalities: Rarely, ACC can cause facial deformities, such as cleft lip or palate.


• Eye abnormalities: ACC may be associated with eye defects, including coloboma (a gap or hole in the structures of the eye) or microphthalmia (abnormally small eyes).


• Central nervous system abnormalities: Some individuals with ACC may have developmental delays, intellectual disabilities, or structural abnormalities in the brain.


• Genitourinary abnormalities: In rare cases, ACC can be associated with malformations of the genital or urinary system.

ACC can be classified into different types based on the location and extent of the skin defects. The most common classification system is the Frieden classification, which includes the following types:

• Type I: Isolated, well-defined lesions on the scalp.


• Type II: Multiple lesions on the scalp, often with a "hair collar" appearance.


• Type III: Lesions on the scalp, along with other skin defects on the body.


• Type IV: Lesions on the scalp, along with other congenital abnormalities or syndromes.

It is important to note that the severity and long-term outcomes of ACC can vary widely. In some cases, the skin defects may heal spontaneously over time, while in others, surgical intervention may be required to close the wounds and promote healing. Additionally, the presence of associated abnormalities or syndromes can influence the overall prognosis and management of the condition.

If a child is suspected to have ACC, it is crucial to consult with a healthcare professional for a proper diagnosis and appropriate management. Genetic counseling may also be recommended to assess the risk of recurrence in future pregnancies.