Aplasia Cutis Congenita Management and Associated Anomalies

Aplasia cutis congenita (ACC) is a rare congenital disorder characterised by the focal or extensive absence of skin, most frequently affecting the scalp but occasionally involving the limbs or trunk. Management strategies range from conservative wound care—employing advanced dressings to promote spontaneous epithelialisation—to complex surgical reconstruction, including local and regional flap techniques. The choice of treatment is influenced by lesion size, depth and location, the presence of underlying structures, and associated anomalies such as neural tube defects, cardiac outflow tract malformations or twin-related complications. Genetic and developmental studies have revealed heterogeneous aetiologies, encompassing neurocristopathies and chromosomal aberrations, underscoring the need for multidisciplinary assessment. Early identification of comorbidities guides prognosis and informs tailored therapy, while long-term follow-up addresses scarring, contractures and functional outcomes. Worldwide, advances in molecular biology and regenerative medicine promise to refine risk stratification and expand therapeutic options for affected individuals.

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Aplasia Cutis Congenita Management and Associated Anomalies publication trend

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Technical terms

Aplasia cutis congenita (ACC): Congenital absence of skin layers, often presenting as a well-demarcated defect on the scalp or other body sites.

Fetus papyraceus: A vanishing twin phenomenon in monochorionic gestations, resulting in a compressed deceased twin associated with type V ACC.

Ectodermal: Pertaining to the outer embryonic germ layer from which the skin and its appendages are derived.

Neural crest cells: Multipotent embryonic cells that migrate to form craniofacial structures, peripheral nerves and melanocytes; their dysfunction underlies certain ACC subtypes.

Local transposition flap: A reconstructive technique in which adjacent skin and subcutaneous tissue are rotated or advanced to cover a defect.

Epithelialization: The process by which new epithelial cells migrate across a wound bed to restore the skin surface.

References

1. KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions and their impairment causes aplasia cutis. Journal of Clinical Investigation (2023).
2. A Closer Look at Aplasia Cutis Congenita: Understanding a Unique Case. Cureus (2024).
3. Large skin defect in Type V aplasia cutis congenita treated with conservative treatment: a case report. BMC Pediatrics (2024).