Aanvullend onderzoek bij aplasia cutis congenita op de scalp

Aplasia cutis congenita (ACC) is a rare condition in which localized areas of skin are absent at birth. Most lesions occur as solitary lesions on the scalp and can be associated with an underlying defect of the periosteum, skull or dura with an increased risk of infection, venous thrombosis and haemorrhage. It can also be seen with a so-called ‘hair collar sign’, which is associated with neuroectodermal anomalies. These complications have a mortality rate of 20-55%. A systemic review was conducted on imaging tests in patients with solitary ACC on the scalp. We advise physical and neurological examination in a multidisciplinary setting for all patients. In case of a defect ≥ 3 cm, a ‘hair collar sign’, a midline defect and/or a visible bone defect we recommend to perform an MRI scan. In case of a defect < 3 cm ultrasound imaging is sufficient to exclude an underlying bone defect. If so, an MRI-scan is advised to rule out intracranial abnormalities.