The online version of this article (doi:10.1186/1752-1947-6-148) contains supplementary material, which is available to authorized users.
The authors declare that they have no competing interests.
TF performed the histological examination of the ovary, and was the major contributor in writing the manuscript. CP performed the histological examination of the odontogenic keratocyst. KB performed the right salpingo-oophorectomy and followed our patient clinically. YEG performed the histological examination of the ovary. All authors read and approved the final manuscript.
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.
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.
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.
Gorlin RJ: Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore). 1987, 66: 98-113. CrossRef
Shanely S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, Martin N, Wicking C, Chenevix-Trench G: Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet. 1994, 50: 282-290. 10.1002/ajmg.1320500312. CrossRef
Gailani MR, Bale SJ, Leffell DJ, DiGiovanna JJ, Peck GL, Poliak S, Drum MA, Pastakia B, McBride OW, Kase R, Greene M, Mulvihille JJ, Bale AE: Developmental defects in Gorlin syndrome to a putative tumor suppressor gene on chromosome 9. Cell. 1992, 69: 111-117. 10.1016/0092-8674(92)90122-S. CrossRefPubMed
Raggio M, Kaplan AL, Harberg JF: Recurrent ovarian fibromas with basal cell nevus syndrome (Gorlin syndrome). Obstet Gynecol. 1983, 61 (3 Suppl): 95S-96S. PubMed
- Gorlin syndrome presenting with a unilateral ovarian fibroma in a 22-year-old woman: a case report
- BioMed Central