Aplasia Cutis Congenita of the Trunk

Case Presentation

A full-term male neonate with no prior prenatal diagnoses was born with two large skin defects on both sides of the trunk, consistent with aplasia cutis congenita (ACC) ([Fig. 1], Supplementary File 1 ). A conservative approach was adopted, consisting of dressings with hydrocolloid materials. The diagnostic work-up included blood tests, chest X-ray, and abdominal and cranial ultrasound, all of which were unremarkable. Placental histology was also normal. At 13 days of life, the patient was discharged with outpatient wound care and oral antibiotic therapy. The clinical course was favorable, with complete re-epithelialization of the affected areas achieved around one month of life ([Fig. 2]). Following an abnormal newborn screening test, the patient was diagnosed at 4 months of age as a carrier of a Hemoglobin J-Chicago variant (HBB gene mutation). During infancy, he underwent surgical repair of a left inguinal hernia. Currently, he is 2 years old, remains asymptomatic, has achieved developmental milestones appropriate for his age, and continues to be under clinical follow-up.

Fig. 1 Initial clinical presentation. The patient exhibits a substantial bilateral defect of the trunk involving the full thickness of the skin and subcutaneous tissue. Notably, the rib cage is exposed through the defect.

Fig. 2 Clinical appearance following healing. Complete epithelialization of both lesions is observed.

Publication History

Article published online:
16 January 2026

• References

• 1 Brackenrich J, Brown A. Aplasia Cutis Congenita. 2023 Jul 31. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025. Jan–
• 2 Hassed S, Li S, Mulvihill J. et al. Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. Am J Med Genet A 2017; 173: 790-800 Epub 2017 Feb 4
• 3 Torkamand F, Ayati A, Habibi Z. et al. Extensive aplasia cutis congenita associated with cephalocranial disproportion and brain extrusion. Childs Nerv Syst 2019; 35: 1629-1632 Epub 2019 May 28. Erratum in: Childs Nerv Syst 2019; 35: 1633. doi:10.1007/s00381-019-04272-3