Encephalocraniocutaneous lipomatosis accompanied by maxillary compound odontoma and juvenile angiofibroma: report of a case.

Background: Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by congenital cutaneous, ocular, and neurologic abnormalities, which may be pronounced in the head and neck.

Methods: In this article we present a well-documented case of a six-year-old boy with ECCL associated with oral manifestations. In this case, typical features such as large lipomatous brown pigmented plaques of the top of the skull with overlying alopecia, ptotic eyelid with decreased function, bulbar conjunctiva lipodermoid, microcalcifications and atrophy of cerebral parenchyma, and the widening of the frontal subarachnoid space and the fissure of Sylvius were accompanied by intraoral lesions, maxillary compound odontoma, and juvenile extranasopharyngeal angiofibroma of the gingiva.

Conclusions: Although cases of odontomas have already been described and angiofibromas are a quite common extraoral finding, to our knowledge this is the first case of intraoral evaluation of both extranasopharyngeal juvenile angiofibroma and maxillary compound odontoma in ECCL syndrome.