Gorlin syndrome

Gorlin syndrome is a hereditary disease characterized by congenital anomalies of skin and of the skeletal, reproductive, and central nervous systems. Two patients, a 19-year-old man and a 27-year-old woman, are described. Both patients complained of multiple pigmentary lesions on the face and the trunk that had been present since childhood and adolescence, respectively. Family history was positive in the second patient, whose father resulted to be affected by Gorlin syndrome. Past medical history revealed repeated surgery for the excision of odontogenic keratocysts in both cases. At physical examination, multiple papulo-nodular lesions, ranging in diameter from a few mm to 2 cm, brownish or of normal skin color, were evident on the face and trunk. X-rays disclosed several anomalies of the skull and hands, whereas histologic examination of skin lesions showed in all samples the typical features of basal cell carcinoma. A regular follow-up and surgical excision followed by histological examination of any suspect lesion was suggested.