Ectodermal dysplasia and brain cystic changes: confirmation of a novel neurocutaneous syndrome.

Ectodermal dysplasia is a rare congenital disorder characterized by dry, brittle hair, dental malformations, and skin abnormalities. It is thought to be the result of embryonic ectodermal dysgenesis, affecting tissues and structures that are widely separated but with common developmental origins. Recently, this disorder has been associated with a unique neuroimaging appearance, consisting of widely dilated perivascular spaces. This association has been proposed as a novel neurocutaneous syndrome, identified in one report as "cerebrum polycystica vera." We report a similar patient with dilated perivascular spaces associated with dermatologic manifestations consistent with ectodermal dysplasia. This patient was otherwise normal, without neurocognitive deficit. Additional neuroimaging findings included widespread white-matter high signal intensity on T2-weighted magnetic resonance imaging, as well as normal findings on magnetic resonance spectroscopy. This case confirms the association of ectodermal dysplasia and brain cystic changes and appears to expand the phenotypic manifestations that may be seen in such patients.