ABSTRACT
INTRODUCTION: Nevoid basal cell carcinoma syndrome, or Gorlin syndrome, is an inherited disorder characterized by malignancies of the skin and other organs, skeletal abnormalities, and congenital malformations. The syndrome follows an autosomal dominant inheritance pattern with a gene mutation localized to 9q22.3. CASE PRESENTATION: We present the case of a 22-year-old Caucasian woman with a unilateral ovarian fibroma, falx cerebri calcification and odontogenic keratocysts, but without any skin manifestations. The diagnosis of nevoid basal cell carcinoma syndrome was made after a right salpingo-oophorectomy for a calcified ovarian fibroma with cystic degeneration. Pathologic examination of the 10 cm right ovarian mass revealed a well-circumscribed spindle cell lesion. Immunohistochemical staining of the lesion demonstrated positivity for vimentin and smooth muscle actin. CONCLUSION: It is important to recognize that nevoid basal cell carcinoma syndrome may present in the absence of skin lesions. Additionally, ovarian fibromas are typically bilateral in nevoid basal cell carcinoma syndrome, but can uncommonly be unilateral, which may alter clinical management. Ovarian fibromas are managed with surgical excision with an attempt at ovarian functional preservation.
