Occult craniocervical dysraphism and skin markers.

To cite: Vasileiadis GT. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015211618 DESCRIPTION Neural tissue and skin are of common ectodermal origin and therefore anomalies occurring during early embryogenesis may lead to combined neuroskin malformations. Neural tube closure occurs during primary neurulation starting from the equivalent of the craniocervical junction and proceeding zip-like in both cephalic and caudal directions. Therefore, any defects of the process may reflect spinal dysraphism with, possibly, combined congenital skin lesions. Occult spinal dysraphism (not exposed but skincovered neural tissue), in the vast majority of cases, is localised in the lumbosacral area and less commonly in the cervicothoracic area. 3 This report describes an atypical case of occult craniocervical dysraphism with combined skin lesions/markers. Routine postnatal examination of a term newborn girl revealed a salmon patch (vascular malformation of capillaries) on the occipital and upper cervical areas, a subcutaneous soft but fixed mass (1.3×1.2×1.0 cm) on the midline at the level of the craniocervical junction, and hair tufts above and below the mass along the midline (figure 1). The differential diagnosis of meningocoele/myelocoele, lipoma, dermal cyst, fibroma, or hamartoma was made. Brain and spine MRI revealed a