Finch et al. Journal of Medical Case Reports 2012, 6:148 http://www.jmedicalcasereports.com/content/6/1/148 C A S E R E P O R T Gorlin syndrome presenting with a unilateral ovarian fibroma in a 22-year-old woman: a case report Terence Finch1*, Chitra Pushpanathan2, Krista Brown3 and Yasser El-Gohary1 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. JOURNAL OF MEDICAL CASE REPORTS Open Access Introduction Nevoid basal cell carcinoma syndrome, or Gorlin syn- drome, is a rare hereditary multisystem disorder. It is characterized by a series of multiple developmental anomalies and increased risk of developing various be- nign and malignant tumors. Clinical manifestations of the disorder include odontogenic keratocysts of the jaw, macrocephaly, intracranial ectopic calcification (includ- ing calcified falx cerebri), palmer or plantar pits, and rib anomalies. Patients with Gorlin syndrome typically de- velop basal cell carcinoma at an early age, during adoles- cence or early adulthood. Various benign and malignant tumors may involve the skin, bone, genitourinary system and central nervous system. Epidermal cysts, ovarian fi- bromas, fibrosarcoma, cardiac fibroma, fetal rhabdomyo- sarcoma, meningioma and medulloblastoma have been * Correspondence: tfinch78@gmail.com 1Discipline of Laboratory Medicine, Faculty of Medicine, Memorial University, 300 Prince Philip DriveSt John’s, NL A1B 3V6, Canada Full list of author information is available at the end of the article reported. Numerous other anomalies and, less com- monly, intellectual disability have also been observed [1]. The prevalence is estimated to be between one in 55,600 to 164,000 [2,3]. Germline mutations of the patched tumor suppressor gene, mapped to chromosome 9q22.3, are known to cause the syndrome [4,5]. The diagnosis can be made using the Kimonis et al. clinical diagnostic criteria, with two major or one major and two minor criteria: Major criteria – Two or more basal-cell carcinomas, or one in person younger than 20 years – Odontogenic keratocysts of the jaw – Three or more palmar or plantar pits – Bilamellar calcification of the falx cerebri – Bifid, fused, or markedly splayed ribs – First-degree relative with Gorlin syndrome © 2012 Finch et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.