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.

A case of nevoid basal cell carcinoma syndrome dominated by facial basal cell carcinoma / 中南大学学报(医学版)

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.

Gorlin-Goltz Syndrome: the importance of Clinical Investigation and a Multidisciplinary Approach / Síndrome de Gorlin-Goltz: la Importancia de la Investigación Clínica y un Enfoque Multidisciplinario

Gorlin-Goltz Syndrome is a genetic disorder characterized by a series of clinical changes, including the presence of multiple odontogenic keratocysts and nevus basal cell carcinomas. As these lesions involve the maxillofacial region and can evolve to severe sequelae, it is essential that the dental surgeon recognize this pathology, in order to promote a correct investigation and early multidisciplinary diagnosis and treatment. The treatment for the cysts varies according to the lesion's characteristics and location, and therefore, the request for complementary exams is essential. According to literature, the approach varies from conservative to more invasive, and several supporting therapies are mentioned. Thus, this article aims to report a case of a young patient diagnosed with Gorlin-Goltz Syndrome by a dental surgeon, who treated conservatively and interdisciplinarly, and obtained a satisfactory result. In addition, it makes a bibliographic review on this genetic condition, elucidating its therapeutic forms.

El síndrome de Gorlin-Goltz es un trastorno genético caracterizado por una serie de cambios clínicos, que incluyen la presencia de múltiples queratoquistes odontogénicos y nevus carcinomas basocelulares. Como estas lesiones involucran la región maxilofacial y pueden evolucionar a secuelas severas, es esencial que el cirujano oral conozca esta patología para realizar una investigación correcta y un diagnóstico y tratamiento multidisciplinario temprano. El plan de tratamiento para los quistes varía de acuerdo con las características y la ubicación de la lesión y, por lo tanto, la solicitud de exámenes complementarios es esencial. Según la literatura, el enfoque varía de conservador a más invasivo, y se mencionan varias terapias de apoyo. Por lo tanto, este artículo tiene como objetivo informar un caso de un paciente joven diagnosticado con el síndrome de Gorlin-Goltz por un cirujano dentista, que trató de forma conservadora e interdisciplinaria, y obtuvo un resultado satis- factorio. Además, realiza una revisión bibliográfica sobre esta condición genética, aclarando sus formas terapéuticas.

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.

Síndrome de Gorlin-Goltz; a propósito de un caso / Gorlin-Goltz syndrome; a clinical case

El síndrome de Gorlin-Goltz (SGG) es también conocido como síndrome névico basocelular o síndrome del carcinoma nevoide basocelular. Fue mencionado por primera vez en 1894 por los doctores Jarish y White y fue descrito en 1960 por Robert J. Gorlin. Es un raro trastorno autosómico dominante, ocasionado por una mutación sufrida en el gen Patched 1 (PTCH1) ubicado en el cromosoma 9q223 (este gen desempeña un papel en la supresión tumoral, la estructuración embrionaria y el ciclo celular), que se caracteriza por defectos en el desarrollo y por elevar de manera significativa la predisposición a padecer algún tipo de cáncer. Su prevalencia es variable según el país, pero está aceptada una media de 1:60.000 habitantes/año, siendo la relación hombre/mujer de 1: 0,621. El diagnóstico del SGG puede resultar complejo debido a la variabilidad en la expresividad del síndrome y en la edad de presentación. La manifestación más común en la cavidad oral son los queratoquistes, lesiones que aparecen hasta en el 90% de los pacientes

Gorlin-Goltz Syndrome (GGS) is also known as basal cell nevus syndrome or nevoid basal cell carcinoma syndrome. It was first mentioned in 1894 by Doctors Jarish and White and described in 1960 by Robert J. Gorlin. It is a rare autosomal dominant condition, caused by a mutation suffered in the PTCH1 gene (Patched 1) located on chromosome 9q223 (this gene plays a role in tumour suppression, embryonic structuring and the cell cycle). It is characterised by defects in development and a significantly increased predisposition to suffering from some type of cancer. Its prevalence varies according to the country, but an average of 1 per 60,000 population/year is accepted, with the male/female ratio being 1:0.621. Diagnosing GGS can be complex due to the variability in the expressiveness of the syndrome and the age of presentation. The most common manifestation is the appearance of keratocysts in the oral cavity, which appear in up to 90% of patients

[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.