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

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 not well understood, but several factors have been identified as potential causes or contributing factors.

Genetic Factors: ACC can be caused by genetic mutations or abnormalities. In some cases, it may be inherited in an autosomal dominant or autosomal recessive manner. Mutations in certain genes, such as the TP63 gene, have been associated with ACC. These genetic factors can disrupt the normal development of the skin, leading to the absence of skin at birth.

Trauma or Injury: ACC can also occur as a result of trauma or injury to the developing fetus. This can include amniocentesis, chorionic villus sampling, or other invasive prenatal procedures. Trauma during pregnancy, such as maternal abdominal trauma or exposure to certain medications or chemicals, may also increase the risk of ACC.

Vascular Insufficiency: Another possible cause of ACC is vascular insufficiency, which refers to inadequate blood supply to the developing fetus. This can occur due to various factors, including placental abnormalities, umbilical cord abnormalities, or maternal conditions that affect blood flow. Insufficient blood supply can disrupt the normal development of the skin, leading to ACC.

Teratogens: Certain teratogenic substances or medications taken during pregnancy have been associated with an increased risk of ACC. Teratogens are substances that can cause birth defects when exposed to a developing fetus. Examples of teratogens that may increase the risk of ACC include retinoids, antithyroid drugs, and certain antiepileptic medications.

Environmental Factors: Environmental factors, such as exposure to toxins or radiation during pregnancy, may also play a role in the development of ACC. Maternal infections, such as herpes simplex virus or varicella-zoster virus, have been associated with an increased risk of ACC.

Other Factors: In some cases, ACC may occur without any identifiable cause. It is possible that a combination of genetic and environmental factors contribute to the development of ACC in these cases.

In conclusion, the exact causes of Aplasia Cutis Congenita (ACC) are not fully understood. Genetic factors, trauma or injury, vascular insufficiency, teratogens, environmental factors, and other unknown factors may all contribute to the development of ACC. Further research is needed to better understand the underlying mechanisms and risk factors associated with this rare condition.