What is the pathophysiology of aplasia cutis congenita (ACC)?

Updated: Jun 17, 2020
  • Author: Chris G Adigun, MD, FAAD; Chief Editor: William D James, MD  more...
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The exact pathophysiology of aplasia cutis congenita (ACC) is unclear. The most commonly accepted theory focuses on the tension that prevents the skin from converging during development in utero. Proposed mechanisms include intrauterine trauma, vascular compromise, infection, and medications. It has been theorized that stellate or angulated lesions in particular result from vascular abnormalities or intrauterine ischemia.

Aplasia cutis congenita is typically sporadic; however, autosomal dominant and, less commonly autosomal recessive, cases have also been reported. Mutations in the ribosomal GTPase BMS1 have been identified as one cause of autosomal dominant aplasia cutis congenita. [58] Familial aplasia cutis congenita on the scalp is generally nonmembranous, whereas membranous aplasia cutis congenita of the scalp is usually sporadic. [59]

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