Aplasia Cutis Congenita: A Case Report

Area of Science:

• Developmental biology
• Dermatology
• Pediatric medicine

Background:

• Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by the absence of skin.
• It can occur in isolation or as part of a syndrome, with genetic factors contributing to its heterogeneous nature.
• While scalp involvement is common in ACC, extensive defects including the skull are infrequent.

Observation:

• This report details a case of a preterm neonate diagnosed with ACC.
• The neonate presented with a large scalp defect.
• The defect notably involved a wide skull defect, extending beyond superficial skin layers.

Findings:

• The preterm neonate exhibited a rare and severe manifestation of aplasia cutis congenita.
• The observed scalp defect was extensive, compromising not only the skin but also the underlying skull structure.
• This case underscores the variability in ACC presentation, particularly in neonates.

Implications:

• This case expands the understanding of the spectrum of aplasia cutis congenita presentations.
• It emphasizes the need for thorough evaluation of neonates with ACC, especially for potential deeper structural involvement.
• Further research into the genetic and developmental pathways of ACC is warranted to improve diagnosis and management.