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01.12.2012 | Case report | Ausgabe 1/2012 Open Access

Journal of Medical Case Reports 1/2012

Gorlin syndrome presenting with a unilateral ovarian fibroma in a 22-year-old woman: a case report

Journal of Medical Case Reports > Ausgabe 1/2012
Terence Finch, Chitra Pushpanathan, Krista Brown, Yasser El-Gohary
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1752-1947-6-148) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

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.

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.


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.

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