Linear nevus sebaceous syndrome associated with choroidal hemangioma

To report a rare case of linear nevus sebaceous syndrome in a little Chinese girl with a new ocular finding.

Case report. The clinical manifestations, ophthalmic features and central nervous system abnormalities associated with this neurocutaneous syndrome are presented.

A little girl, aged 1 year and 8 months, had several linear or oval nevi on her forehead and parietal scalp. Three round well-defined subcutaneous masses, approximately 1 cm in size, were present on the occipital, parietofrontal and right mastoid region, respectively. A round choroidal hemangioma, approximately 4-5 PD in diameter, was found in the superotemporal portion of the right fundus without retinal detachment. A round mass, 8 x 8 mm in size and tough in consistency, was located in the left upper eyelid, together with a 1/2 coloboma of the middle upper eyelid. Extensive choristomas of the superior bulbar conjunctiva and nearly the whole cornea were found in the left eye. CT-scans of both the brain and orbit disclosed left cerebral hypoplasia, dysplasia of sphenoid bone and temporal bone, and multiple calcifications of posterior sclera of both the right and the left eye. The mass on the left upper eyelid was removed and pathological examination confirmed the diagnosis of eyelid choristoma.

Patients with linear nevus sebaceous syndrome may have choroidal hemangioma.