Aplasia cutis congenita associated with a lipoma

Area of Science:

• Dermatology
• Pediatrics
• Medical Genetics

Background:

• Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by the absence of skin, typically on the scalp.
• Existing classifications of ACC struggle to encompass its diverse clinical presentations.
• Accurate diagnosis and classification are crucial for effective management and prognosis.

Observation:

• This report describes a pediatric case of aplasia cutis congenita.
• Histological confirmation of ACC was obtained.
• A notable finding was the presence of a lipoma or lipomatosis directly underlying the congenital skin defect.

Findings:

• The co-occurrence of aplasia cutis congenita and an underlying lipoma is unprecedented in medical literature.
• Histopathological examination confirmed the diagnosis and the association with subcutaneous adipose tissue.
• This case suggests a potential, previously unrecognized subtype or association within ACC spectrum.

Implications:

• This unique presentation expands the understanding of the phenotypic variability of aplasia cutis congenita.
• It underscores the importance of thorough histopathological evaluation in complex ACC cases.
• Further research is warranted to explore potential genetic or developmental links between ACC and lipomatous malformations.