An Institutional Experience of a Tertiary Referral Center in Surgically Managing Patients With Gorlin Syndrome.

BACKGROUND: The lifetime risk for basal carcinoma (BCC) is 90% in patients with Gorlin syndrome, also known as basal cell nevus syndrome. Compared with non-Gorlin patients, Gorlin patients often develop BCCs at a younger age and in greater numbers up to 500 BCCs in a lifetime. OBJECTIVE: To review the options available for Gorlin patients and highlight existing knowledge gaps where future studies are indicated to optimize the care of this unique population. METHODS: We review the current literature on managing patients with Gorlin syndrome from the lens of a dermatologic surgeon. RESULTS: Although Mohs surgery is still the gold standard for large and aggressive BCCs, other less-invasive approaches may be considered for smaller, more numerous lesions. As dermatologic surgeons, we must be open to the full spectrum of surgical and nonsurgical options to individualize treatment and optimize patients' quality of life. Without maintaining a balance between optimal cure rate and volume management, Gorlin patients become at risk for surgical burn out and loss to follow-up. CONCLUSION: Gorlin patients undergo numerous surgeries especially on the central face which can lead to disfigurement and reduce the quality of life. Identifying gaps in the current literature, continuing ongoing research, and eventually establishing appropriate guidelines that help to guide the formation of an individualized treatment plan is crucial in developing a balance between conservative and complex treatments for this population.

Bilateral ovarian fibromas as the sole manifestation of Gorlin syndrome in a 22-year-old woman: a case report and literature review.

BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare autosomal dominantly inherited disorder that is characterized by multisystem disorder such as basal cell carcinomas, keratocystic odontogenic tumors and skeletal abnormalities. Bilateral and/or unilateral ovarian fibromas have been reported in individuals diagnosed with NBCCS. CASE PRESENTATION: A 22-year-old female, presented with low back pain, and was found to have bilateral giant adnexal masses on pelvic ultrasonography, which had been suspected to be malignant ovarian tumors. Positron emission tomography/computed tomography showed multiple intracranial calcification and skeletal abnormalities. The left adnexa and right ovarian tumor were resected with laparotomy, and pathology revealed bilateral ovarian fibromas with marked calcification. We recommended the patient to receive genetic testing and dermatological examination. No skin lesion was detected. Germline testing identified pathogenic heterozygous mutation in PTCH1 (Patched1). CONCLUSIONS: The possibility of NBCCS needs to be considered in patients with ovarian fibromas diagnosed in an early age. Skin lesions are not necessary for the diagnosis of NBCCS. Ovarian fibromas are managed with surgical excision with an attempt at preserving ovarian function. Follow-up regime and counseling on options for future fertility should be offered to patients.

Nevoid Basal Cell Carcinoma Syndrome: Clinical Features, Treatment, and Diagnostic Criteria.

ABSTRACT: Nevoid basal cell carcinoma syndrome is a rare genetic disorder that has an impact on the body's organs, such as skin and skeletal. Clinical features, physical and pathological examinations, surgical treatment, and diagnostic criteria have been explicated by means of describing the medical experience of a patient with nevoid basal cell carcinoma syndrome in this report.

A rare case of cardiac fibroma diagnosis in Gorlin-Goltz syndrome with information on management.

Gorlin-Goltz syndrome is a rare autosomal dominant disease characterized by odontogenic keratocysts and basal cell carcinoma as well as ophthalmic and neurological implications. The following article presents the case of a 20-year-old female with Gorlin-Goltz syndrome incidentally found to have a cardiac mass. An ECG showed diffuse T-wave inversions in the lateral leads despite a lack of any acute coronary symptoms in the patient. Echocardiogram, cardiac MRI and CT scan confirmed a nonvascularized, smoothly marginated mass arising from the left ventricular apex without any hemodynamic compromise. A whole-body PET scan further demonstrated localized hyperactivity associated with a cardiac fibroma without any evidence of metastasis. The cardiac fibroma was surgically excised for definitive management to prevent the possibility of sudden cardiac death and congestive heart failure.

Cardiac fibroma presents as a benign tumor of the heart. Although tumors of the heart are uncommon, patients who have Gorlin­Goltz syndrome are at a higher risk of developing these fibromas. In the following article, the authors discuss the presence of this rare cardiac fibroma in a 20-year-old female patient with Gorlin­Goltz syndrome. The patient's tumor was found incidentally during a CT scan after she presented with symptoms of flank pain. A follow-up was later conducted with cardiology and cardiac surgery. Several tests were performed to scan the exact tumor location in the heart. Finally, the tumor was removed, and the patient recovered after surgery. Later, the patient was diagnosed with depression and needed medicine to cope with emotional trauma from multiple surgeries.

A case of nevoid basal cell carcinoma syndrome dominated by facial basal cell carcinoma. / é¢éƒ¨åŸºåº•ç»†èƒžç™Œä¸ºä¸»çš„ç—£æ ·åŸºåº•ç»†èƒžç™Œç»¼åˆå¾1例.

Nevus-like basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the occurrence of multiple maxillofacial keratocysts, basal cell carcinoma, child medulloblastoma, and various skeletal and soft tissue dysplasia. In 2020, a patient with NBCCS dominated by facial basal cell carcinoma was admitted to Xiangya Hospital of Central South University. The patient was an elderly woman. Ten years ago, the systemic mass appeared, especially on the face, but it was not treated. Later, these masses gradually increased in volume and number, and showed invasive properties. The nasal mass was broken and suppurated, seriously affecting the patient's life quality. The patient came to the hospital to improve the symptoms. Staphylococcus aureus and Providencia rettgeri were cultured in the patient's nasal secretions. Nasal sinus enhanced MRI showed that the subcutaneous soft tissue of the right cheek and the anterolateral mucosa of the left nasal cavity were invaded, indicating multiple malignant skin lesions. After admission, local anesthesia was performed and some masses were removed. Pathological examination of the mass showed basal cell carcinoma. After general anesthesia, multiple masses were resected. The postoperative pathological examination showed that multiple basal cell carcinoma invaded the deep dermis near subcutaneous fat layer. Combined with the results of clinical and immunohistochemical examination, the patient was diagnosed as NBCCS. There were no clear tumor thrombus in the vessel and no nerve invasion. No recurrence or new tumor was found after 1 year follow-up. The incidence rate of NBCCS is low and clinical symptoms are different. The patient's life quality is poor and the patient needs long-term individualized treatment.

Queratoquistes odontogénicos maxilares en paciente con síndrome de Gorlin. Descripción de un caso y revisión de la literatura / Maxillary odontogenic keratocysts in a Gorlin síndrome patient: Case report and literatura review

Los queratoquistes maxilares son frecuentes en pacientes con síndrome de Gorlin. Su tratamiento es debatido por su alta tendencia a la recidiva. En los últimos años la cirugía endoscópica nasosinusal ha adquirido importancia en el manejo de esta patología. Exponemos en caso de un varón de 16 años afecto de este síndrome con queratoquistes maxilares donde se realiza un abordaje combinado, endonasal y transoral.

Maxillary keratocysts are frequent in Gorlin Syndrome patients. Its treatment is discussed due to the high tendency to recurrence. In the last years the sinonasal endoscopic surgery has become an important tool in the management of this pathology. We report a 16 years old boy with Gorlin Syndrome and maxillary keratocysts treated with a trans-nasal endoscopic and intra-oral combined approach.

Fluorine 18 Fluorodeoxyglucose PET/CT Findings in Gorlin-Goltz Syndrome.

Online supplemental material is available for this article.

Ocular Dermoid in Patient With Basal Cell Nevus Syndrome.

A 47-year-old women presented for Mohs Micrographic Surgery for a biopsy proven basal cell carcinoma involving the right nasal ala. The patient had a history of basal cell nevus syndrome (BCNS) and previous history of multiple basal cell carcinomas.

[The complex dental and oral surgical management with 8-year follow up of a Gorlin‒Goltz syndrome patient]. / Gorlin­Goltz-szindrómás beteg komplex fogorvosi, szájsebészeti kezelése és 8 éves követése.

Gorlin-Goltz syndrome is an autosomal dominant hereditary disease. Its leading symptoms include keratocysts of the jaws, multiple basal cell carcinomas, skeletal abnormalities, intracranial calcifications and dyskeratosis of the soles and palms. One of the most common and often firstly discovered symptoms is the single or multiplex keratocysts of the jaws. The authors present a case of a child, diagnosed in their orthodontic department. Despite the rare occurrence of the disease, an early detection is important, especially in young patients. Regular follow-up and timely care for patients may avoid life-threatening malformations and radical surgical treatments. Orv Hetil. 2020; 161(2): 67-74.

Gorlin-Goltz Syndrome with Intracranial Meningioma: Case Report and Review of Literature.

BACKGROUND: Gorlin-Goltz syndrome is a rare hereditary disease affecting multiple organ systems. Medulloblastoma is the most common intracranial malignancy in these patients, radiotherapy makes them more susceptible to intracranial meningioma. Here we report an intracranial meningioma without radiation exposure. CASE DESCRIPTION: We present a case of intracranial meningioma in a young woman who was postoperatively diagnosed to have Gorlin-Goltz syndrome based on presence of calcification of bilateral tent and falx. Further clinical and radiological assessment helped us identify many other syndromic features and patient was promptly advised multispecialty consultations to screen for other malignancies and counselled regarding risk factors. CONCLUSIONS: Early identification of the syndrome is important for prevention of secondary radiation-induced malignancies, both intracranial and extracranial. Patients need multidisciplinary approach for management.

Gorlin-Goltz Syndrome: A Rare Syndrome Presenting as an Even Rarer de Novo Case with Numerous Features and Complications.

A 76-year-old woman with intellectual deficit presented with a small, pearly, telangiectatic raised lesion on the left cheek, together with an ulcerated lesion on the right side of the nose (Figure 1), which were clinically diagnosed as basal cell carcinomas (BCCs.) These were treated with cryotherapy. The patient had had a right hemimandibulectomy (Figure 1), and she showed frontal and temporal bossing and a wide nasal bridge.

Gorlin-Goltz syndrome.

BACKGROUND: Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by a predisposition to various cancers. Clinicopathological findings of syndrome are very diverse and many symptoms begin to manifest in a certain period of life. CASE: The authors describe a case report of a man who, at the age of 34 years, presented to a dermatologist with multiple tumor lesions of the skin. The lesions started to develop when he was 30 years old and thereafter increased in number. Histology revealed superficial, superficial-nodular and nodular basal cell carcinomas. A total of 11 basal cell carcinomas were surgically removed and microscopically investigated. The others were treated locally with imiquimod cream and cryotherapy. In addition, he was found to have multiple odontogenic keratocysts in the jaw and mandible, as well as supernumerary and retinated teeth. Stomatologic and maxillofacial surgery interventions were performed. Further clinical and imaging examinations confirmed macrocephaly, hypertelorism, calcification of falx cerebri, and abnormalities of the cervical vertebrae. The spectrum of pathological findings met the diagnostic criteria of Gorlin-Goltz syndrome. CONCLUSION: Although Gorlin-Goltz syndrome is very rare in routine practice, it usually represents a serious disease with multiple organ system involvement. From a prognostic point of view, early diagnosis with adequate therapy is critical. If a diagnosis is confirmed, lifetime dispensary care with interdisciplinary medical cooperation is necessary. The authors would like to thank all physicians who participated in the diagnostics and therapy of the presented patient. The authors declare they have no potential confl icts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 30. 8. 2018 Accepted: 8. 1. 2019.

Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome - a case report.

BACKGROUND: The Gorlin-Goltz syndrome is an autosomal dominant disorder characterized by keratocystic odontogenic tumors in the jaws, multiple basal cell carcinomas and skeletal abnormities. Frequently, the manifestation of the syndrome occurs in the adolescent years. CASE PRESENTATION: An 11-year-old boy was referred to our clinic due to the persistence of the lower deciduous molars. The further diagnosis revealed bilateral keratocystic odontogenic tumors in the region of teeth 33 and 45 representing a symptom of a Gorlin-Goltz syndrome. This case of the oral rehabilitation of an adolescent with bilateral keratocystic odontogenic tumors shows the approach of a multidisciplinary treatment concept including the following elements: Enucleation and bone defect augmentation using a prefabricated bone graft; distraction osteogenesis to extend the graft-block vertically after cessation of growth; accompanying orthodontic treatment, guided implant placement and prosthetic rehabilitation. Six months after implant insertion, a new keratocystic odontogenic tumor in the basal part of the left sinus maxillaris had to be removed combined with the closure of the oroantral fistula. During the follow-up period of 18 months in semi-annual intervals, the patient showed no sign of pathology. CONCLUSION: In the presented case could be shown that distraction osteogenesis of prefabricated bone blocks is possible. With a multidisciplinary approach in a long-term treatment a sufficient oral rehabilitation of the patient suffering from extended keratocystic odontogenic tumors was possible.

Rhabdomyosarcoma and rhabdomyoma associated with nevoid basal cell carcinoma syndrome: Local treatment strategy.

This article presents the case of a child presenting with a rhabdomyosarcoma associated with a fetal rhabdomyoma in the setting of nevoid basal cell carcinoma syndrome. Oncologic strategy is discussed.

Reclassification and treatment of odontogenic keratocysts: A cohort study.

The odontogenic keratocyst (OKC) is a recurrent cyst that has been recently reclassified from an odontogenic tumor to an odontogenic cyst. The aim of the present study was to investigate its treatment and address issues related to its association with nevoid basal cell carcinoma syndrome (NBCCS). Lesions from the cohort of patients included in the present study consisted of 40 OKCs, of which 27 lesions were treated by enucleation (GE) and 13 underwent decompression (GD). Complementary treatment occurred in 38 (95%) lesions, of which 10 underwent isolated peripheral ostectomy (GO) and 28 underwent peripheral ostectomy combined with Carnoy's solution (GC). Thirteen lesions were associated with NBCCS (GS), while the others (n=27) were non-syndromic lesions (GnS). The recurrence-free periods (RFP) in the sample groups were compared using the Kaplan-Meier function and log-rank test at a significance level of 5% (p < 0.05) and were used to calculate the cumulative risk of recurrence (CRR) in each postoperative year. During the follow-up period, which had a mean of 43.5 months (range: 12-102 months), six (15%) recurrences were diagnosed. There was no significant difference among the RFP for the compared groups (p > 0.05) or increased CRR for the decompression (15.4%) over five years. Application of Carnoy's solution did not increase the efficacy of the peripheral ostectomy, but was related to a CRR of 0% for the syndromic lesions over five years. Therefore, 1) decompression did not increase the recurrence risk; 2) peripheral ostectomy demonstrated a similar efficacy as the combination with Carnoy's solution; 3) the association of NBCCS did not seem to significantly influence OKC recurrence; and 4) syndromic lesions seem to behave in the same manner as non-syndromic lesions when submitted to complementary treatments.

Conservative Treatment of Multiple Keratocystic Odontogenic Tumors in a Young Patient with Nevoid Basal Cell Carcinoma Syndrome by Decompression: A 7-year Follow-up Study.

Multiple keratocystic odontogenic tumors (KCOT) occurred in a young child is challenging problem in the field of pediatric dentistry, and might have been related to nevoid basal cell carcinoma syndrome (NBCCS). Because of high recurrence rate of KCOTs, complete surgical resection is generally accepted as definitive treatment. However, complete surgical resection could induce negative effect on the development of permanent teeth and growth of jaw. Herein, we reported successful treatment case of young KCOT patient with NBCCS. Although multiple KCOTs occurred continually, the majority of the lesions healed well by decompression and important anatomical structures and permanent teeth were successfully preserved. The purpose of this paper is to report more conservative treatment of multiple keratocystic odontogenic tumors (KCOTs) by repeated decompressions with later peripheral ostectomy during a 7-year follow-up.

Sporadic versus syndromic keratocysts-Can we predict treatment outcome? A review of 102 cysts.

OBJECTIVES: Keratocystic odontogenic tumor (KCOT) demonstrates variable growth mechanisms and biologic behavior, partly due to origin and histology. We looked for the most contributing factors in predicting outcome of treatment. SUBJECTS AND METHODS: We retrospectively reviewed 118 medical files of patients diagnosed with KCOT (by tissue biopsy before surgical treatment) with/without nevoid basal cell carcinoma syndrome (NBCCS) from 1995 to 2015. Data were recorded and analyzed statistically to determine the treatment-outcome correlation. KCOTs in NBCCS patients were termed "syndromic" and random KCOTs termed "sporadic." RESULTS: Of 102 cysts, 32 were diagnosed with NBCCS. Sporadic KCOTs were significantly larger upon diagnosis (p < .017). Factors most indicative of postsurgical complications are older age (p < .011), upper jaw location, and size of lesion ≥9.5 cm². Sporadic KCOTs significantly increased the chances of complications approximately threefold (p < .043). Higher recurrence rate was significant in syndromic cysts (47%) compared to sporadic cysts (20%) (p < .009). Recurrence time was 3 years on average. CONCLUSIONS: Postsurgical complications may be expected in: older patients, upper jaw location, extensive lesions, and sporadic KCOT. Most KCOT recurrence is diagnosed 3 years from treatment.