Skeletal imaging of Gorlin's syndrome.

ABSTRACT

OBJECTIVE: To report a case of a patient with many of the common manifestations of Gorlin's syndrome, a rare inherited condition. CLINICAL PRESENTATION AND INTERVENTION A 26-year-old female with longstanding left hip pain was referred for bone scintigraphy to find the cause of pain. The findings on bone scintigraphy as well as prior radiographic studies illustrated many of the defining features of Gorlin's syndrome, i.e. jaw keratocysts, falcine calcifications, short and deformed ribs, Sprengel deformity and a sclerotic bone lesion. The past medical history also revealed dermatologic, cardiac and gynecological findings related to the syndrome. CONCLUSION: Our case highlights the multisystemic involvement of Gorlin's syndrome, based particularly on the skeletal findings. Practicing physicians, including imaging specialists, should be familiar with these findings to reach the diagnosis.