What is the role of imaging studies in the workup 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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Imaging studies are seldom required for small circular or oval aplasia cutis congenita (ACC) of the scalp with no apparent associated anomalies.

Atypical or very large scalp defects should be imaged for possible underlying bone, vascular, or soft tissue defects. In one neonate, a ventricular diverticulum of the posterior horn of the lateral ventricle was associated with aplasia cutis congenita of the scalp. It manifested as an expanding bulge of the subdural space.

Magnetic resonance imaging of the head is recommended for evaluation of ectopic neural tissue in midline bullous or membrane scalp aplasia cutis congenita. [63] Ultrasound imaging can be used for larger nonmembranous scalp aplasia cutis congenita to evaluate for underlying bony defects. [64]

Distal radial epiphyseal dysplasia associated with aplasia cutis congenita over the dorsum of the distal forearm has been reported. Although the aplasia cutis congenita was diagnosed at birth, the radial dysplasia was not recognized until presentation to an orthopedist at age 5-10 years. Radiographs of the involved extremity should be performed in cases of aplasia cutis congenita involving the distal forearm.

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