Ovarian fibromas are the most common benign solid ovarian tumors, which are often difficult to diagnose preoperatively. Ovarian fibromas, especially in bilateral cases, may be cases of Gorlin-Goltz syndrome (GGS), a rare autosomal dominant disorder with predisposition to basal cell carcinomas (BCCs) and other various benign and malignant tumors. This case report describes a 25 year-old female with GGS, bilateral ovarian fibroma, endometriosis and septated uterus, which was referred to the Gynecology Clinic of Rasoul-e-Akram Hospital in October 2016. This patient had facial asymmetry due to recurrent odontogenic keratocysts. In young cases of ovarian fibromas as reported here, conservative surgical management can preserve ovarian function and fertility. These patients must be followed up by a multidisciplinary team and submitted to periodic tests. Â© 2018, Royan Institute (ACECR). All rights reserved

Farbod, A.

Khodaverdi, S.

Mehdizadeh-Kashi, A.

Nazari, L.

Rokhgireh, S.

Tajbakhsh, B.

Vahdat, M.

eprints Iran University of Medical Sciences

Case Report88Conservative Management of Ovarian Fibroma in A Case of Gorlin-Goltz Syndrome Comorbid with Endometriosis Sepideh Khodaverdi, M.D.1, Leila Nazari, M.D.¹*, Abolfazl Mehdizadeh-Kashi, M.D.1, Mansoureh Vahdat, M.D.1, Samaneh Rokhgireh, M.D.¹, Ali Farbod, M.D.2, Banafsheh Tajbakhsh, M.D.11. Endometriosis Research Center, Iran University of Medical Science, Tehran, Iran2. Department of General Surgery, Rasool-Akram Hospital, Iran University of Medical Science, Tehran, IranAbstract Ovarian fibromas are the most common benign solid ovarian tumors, which are often difficult to diagnose preopera-tively. Ovarian fibromas, especially in bilateral cases, may be cases of Gorlin-Goltz syndrome (GGS), a rare autoso-mal dominant disorder with predisposition to basal cell carcinomas (BCCs) and other various benign and malignant tumors. This case report describes a 25 year-old female with GGS, bilateral ovarian fibroma, endometriosis and sep-tated uterus, which was referred to the Gynecology Clinic of Rasoul-e-Akram Hospital in October 2016. This patient had facial asymmetry due to recurrent odontogenic keratocysts. In young cases of ovarian fibromas as reported here, conservative surgical management can preserve ovarian function and fertility. These patients must be followed up by a multidisciplinary team and submitted to periodic tests. Keywords: Endometriosis, Gorlin-Goltz  Syndrome, Odontogenic  Keratocysts, Ovarian FibromaCitation: Khodaverdi S, Nazari L, Mehdizadeh-Kashi A, Vahdat M, Rokhgireh S, Farbod A, Tajbakhsh B. Conservative management of ovarian fibroma in a case of Gorlin-Goltz syndrome comorbid with endometriosis. Int J Fertil Steril. 2018; 12(1): 88-90. doi: 10.22074/ijfs.2018.5240.Introduction Gorlin-Goltz syndrome (GGS), also known as the nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant inherited disorder (1). The incidence of this disorder is estimated to be 1 in 50,000  to 150,000 in the general population, varying by geographic region (2). Although it occurs in all ethnic groups, it mostly af-fects whites, with males and females equally affected (3). Pathogenesis of NBCCS is due to mutations in the patched tumor suppressor gene 9q22.32; PTCH1 caus-ing abnormality in the Hedgehog (Hh) signaling pathway, thus resulting in neoplasm formation (4).Received: 28 Feb 2017, Accepted: 13 Jun 2017*Corresponding Address: P.O.Box: 1445613131, Endometriosis and Gyneco-logical Disorder Research Center, Iran University of Medical Science, Tehran, IranEmail: lnazariobgyn@gmail.comRoyan InstituteInternational Journal of Fertility and Sterility Vol 12, No 1, Apr-Jun 2018, Pages: 88-90GGS is characterized mainly by the presence of multi-ple basal cell carcinomas (BCC), odontogenic keratocysts (OKCs) of the jaw, palmar pits and ectopic calcifications of the cerebral falx. More than a 100 minor criteria have also been described. The presence of two major and one minor criteria or one major and three minor criteria are necessary to establish a diagnosis (5). Recent consensus statement from the first international colloquium on basal cell nevus syndrome(BCNS) proposed less stringent cri-teria for diagnosis where one major criterion and molecu-lar confirmation, two major criteria or one major and two minor criteria are sufficient (Table 1) (3). Table 1: Criteria for diagnosis Gorlin-Goltz syndromeThe major criteria are: The minor criteria are:Multiple BCC or one occurring under the age of 20 years Macrocephaly (adjusted for height)Histologically proven OKCs of the jaws Congenital malformation: cleft lip/palate, frontal bossing, coarse face, moderate or severe hypertelorismPalmar or plantar pits (three or more) Other skeletal abnormalities: sprengel deformity, marked pectus deformity, marked syndactyly of the digitsBilamellar calcification of the falx cerebriRadiological abnormalities: bridging of the sella turcica, vertebral anomalies such as hemivertebrae, fusion or elongation of the vertebral bodies, modeling defects of the hands and feet or flame shaped hands or feetBifid, fused or markedly splayed ribs Ovarian fibromaA first-degree relative with NBCCS MedulloblastomaBCC; Basal cell carcinoma, OKCs; Odontogenic keratocysts and NBCCS; Nevoid basal cell carcinoma syndrome.Int J Fertil Steril, Vol 12, No 1, Apr-Jun 2018              89Early diagnosis of the syndrome is of great clinical impor-tance since the severity of complications, such as maxillofa-cial deformities related to the jaw cyst, can be avoided and long-term prognosis of malignant skin lesion and brain tumor is better when early diagnosis and treatment is initiated (6).Diagnosis of NBCCS may be difficult because of vari-able expressivity and different age-onsets for different traits of this disorder. The average age for diagnosis of NBCCS is 13 years while the average age for detection of basal cell carcinoma is 20 years. The clinical expres-sion of the syndrome varies among individuals within the same family and to a greater extent among families (7). This case report describes a patient with typical features of GS, diagnosed for the first time in our Department. Case reportA 25 year-old female was referred to the Gynecology Clinic of Rasoul-e-Akram Hospital because of chronic abdominal pain, myomatous uterus and a  6×8 cm2 right adnexal mass suspicious to be a dermoid cyst in sonogra-phy and magnetic resonance imaging (MRI) reports due to the presence of dense calcification in the tumor. Tumor markers were all normal. She had been born by uncom-plicated normal vaginal delivery. She spoke and walked at 19 months of age and her neurodevelopment was nor-mal. At 21 years of age, she was diagnosed with OKCs in the mandibular and maxillary regions, and submitted to surgery for the removal of her dental cysts. In less than a year, the surgery was repeated due to recurrent OKCs.One year later, she complained of pain in her lower ab-domen and underwent trans-abdominal ultrasonography and pelvic MRI, which revealed the right ovarian mass, suspicious of being a dermoid cyst, and a myomatosis septated uterus. Physical examination revealed hirsutism with harsh face and multiple nevi on face and upper trunk. She underwent laparoscopic surgery but after abdominal entry, we encountered unusual round solid ovarian mass-es, which could not be excluded as malignant. Frozen sec-tions, however, showed they were benign. There was a 6 cm endometrioma in the right ovary and multiple bilat-eral ovarian fibromas (Figs.1, 2). There were also endo-metriotic patches in a posterior cul-de-sac. We excised 7 fibromas from the left ovary and 5 fibromas from the right ovary in different sizes ranging from 0.3 to 5 cm in diame-ter. Both ovaries were preserved. The definitive histologic diagnosis confirmed stromal proliferation and no atypia in the ovarian tissue with areas of necrosis, corresponding to an ovarian fibroma and endometriosis.According to the laparoscopy outcome, pathologic find-ings and history of recurrent OKCs, Gorlin syndrome was the top differential diagnosis. Investigation for other signs and symptoms of this syndrome confirmed the diagnosis. Chest radiography, posterior-anterior skull view and spine x-rays were normal. We referred the patient to a dermatologist and excisional biopsy of nevi was undertaken. Fortunately, the pathologic examination was benign. A written consent was taken from the patient for publication of this report.Fig.1: The right ovary with endometrioma and fibroma. Fig.2: The left ovary with endometrioma and fibroma.DiscussionGS is an autosomal dominant disorder with near com-plete penetrance and variable expressivity, and with an estimated birth incidence of 1 in 19,000 individuals (2). Our patient had one major criterion (i.e. multiple OKCs in the jaw) and 2 minor features (i.e. multiple bilateral ovarian fibromas and a coarse face), thus suggesting it to be a case of GGS.ConclusionThree quarters of female patients with GGS are affected with ovarian fibroma that could be bilateral and recurrent, Khodaverdi et al.Int J Fertil Steril, Vol 12, No 1, Apr-Jun 2018                 90and thus requires repeated surgery. Fertility of the patient may be influenced by these repeated surgeries and one of the important consultations with these patients has to be about fertility preservation plans. Ovarian fibromas can be excised with minimally invasive methods and the func-tion of the ovary can be preserved at a healthier state.AcknowledgementsThis study was financially supported by Iran University of Medical Sciences and the Endometriosis and Gyneco-logical Disorder Research Center. The authors declare that they have no conflict of interests. Author's ContributionsS.Kh., L.N., A.M.K.; Contributed to conception and de-sign. M.V.;  Were responsible for overall supervision. S.R., A.F. B.T.; Drafted the manuscript, which was revised by L.N. All authors read and approved the final manuscript.References1. Sabbia T, Bovone S, Camera A, Gambini C, Balbi P. Gorlin-Goltz syndrome with odontogenic keratosis. Report on a patient followed for 10 years. Minerva Stomatol. 1994; 43(7-8): 359-363.2. Patil K, Mahima VG, Gupta B. Gorlin syndrome: a case report. J Indian Soc Pedod Prev Dent. 2005; 23(4): 198-203.3. Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGio-vanna JJ, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet. 1997; 69(3): 299-308.4. Ljubenović M, Ljubenović D, Binić I, Jovanović D, Stanojević M. Gorlin-Goltz syndrome. Acta Dermatovenerol Alp Pannonica Adri-at. 2007; 16(4): 166-169.5. Jawa DS, Sircar K, Somani R, Grover N, Jaidka S, Singh S. Gorlin-Goltz syndrome. J Oral Maxillofac Pathol. 2009; 13(2): 89-92.6. de Amezaga AOG, Arregui OG, Nuño SZ, Sagredo AA, Aguirre JM. Gorlin-Goltz syndrome: clinicopathologic aspects. Med Oral Patol Oral Cir Bucal. 2008; 13(6): E338-E343.7. Ramaglia L, Morgese F, Pighetti M, Saviano R. Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syn-drome: case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006; 102(2): 217-219.Ovarian Fibroma in A Case of GGS

Conservative management of ovarian fibroma in a case of Gorlin-Goltz syndrome comorbid with endometriosis

Abstract

Similar works

Full text

Available Versions

eprints Iran University of Medical Sciences

eprints Iran University of Medical Sciences