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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., (Copyright © 2023 by the American Society for Dermatologic Surgery, Inc. Published by Wolters Kluwer Health, Inc. All rights reserved.)

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., (© 2023. The Author(s).)

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., Competing Interests: The authors report no conflicts of interest., (Copyright © 2021 by Mutaz B. Habal, MD.)

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.

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.

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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.

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., (Copyright © 2019 Elsevier Inc. All rights reserved.)

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.

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.

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.

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.

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., (© 2018 Wiley Periodicals, Inc.)

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.

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., (© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. All rights reserved.)

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.

Gorlin-Goltz syndrome is mainly characterised by the development of numerous multicentric and relapsing cutaneous basal cell carcinomas (BCCs). A major problem for patients with Gorlin-Goltz syndrome is the large amount of BCCs that can invade the deep underlying structures, especially the face. Here, we describe the case of a 23-year-old male affected by Gorlin-Goltz syndrome. He had recurrent BCCs on a hairless scalp and dorsum since he was 17 years old and underwent four surgical procedures to excise BCCs, including a reconstruction with anteromedial thigh perforator flap. For each of the surgical procedures, a phenotypic study on peripheral blood mononuclear cells using flow cytometry was performed on the same day of surgery, and on days 7, 14 and 21 after surgery. The role of the tumour-specific cytolytic immune response as a potential future treatment of syndromic BCCs and its trend in relation to surgical ablation of large portions of tumour tissue was examined, and the cosmetic and therapeutic results are shown.

Background: Meigs syndrome is a rare complication associated with ovarian fibromas. Although ovarian fibromas are rare in children, they are common in women with Gorlin syndrome after puberty., Case: A 14-year-old girl with Gorlin syndrome was admitted to our hospital for ablation of basal cell carcinoma. A chest x-ray revealed pleural effusion. Ultrasonography revealed bilateral multinodular ovarian masses. Meigs syndrome associated with ovarian fibromas was considered. A laparotomy revealed bilateral ovarian masses, which were resected. Microscopically, the masses were composed of mitotically active fibroma and areas resembling hemangiopericytoma and luteinized thecoma. The pleural effusion disappeared soon after the surgery., Summary and Conclusion: Physicians should consider the possibility that pleural effusion might precede the diagnosis of ovarian fibroma in patients with Gorlin syndrome., (Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

Background: Gorlin syndrome is a rare autosomal dominant syndrome characterized by multiple basal cell carcinomas, keratocystic odontogenic tumors (KOT) and falx cerebral calcifications, which occur due to mutation in PTCH gene., Case Presentation: A 36 year old Asian patient presented with jaw swelling and pain. Radiographic examination revealed six cysts in maxilla and mandible which were excised and histologically were compatable with keratocystic odontogenic tumors. CT scan also revealed falx cerebral calcification which led to the diagnosis of Gorlin syndrome confirmed on genetic testing. There was no evidence of basal cell carcinoma and other manifestations of Gorlin syndrome were absent., Conclusions: Multiple KCOT are hallmark of Gorlin syndrome and should always leads to its suspicion even in the absence of other manifestations and late presentation. Moreover, keratocystic odontogenic tumors have a particularly higher risk of recurrence and patients with Gorlin syndrome are prone to develop additional keratocystic odontogenic tumors from basal cells of oral epithelium. Therefore we suggest a stepwise approach to manage such patients which include a preoperative biopsy to establish a definitive diagnosis and complete removal of all keratocystic odontogenic tumors to prevent recurrence followed by close clinical follow up and early removal of any newly developed or recurrent cyst. Additionally thorough clinical examination is necessary to rule out the possibility of Gorlin syndrome in any patient with keratocystic odontogenic tumors as there are only subtle differences in histology of those cysts with a syndromic association and clinical features of Gorlin syndrome are markedly variable. Hence late occurrence of keratocystic odontogenic tumors and absence of skin manifestations like basal cell carcinoma should not preclude a diagnosis of Gorlin syndrome.

Basal cell nevus syndrome (BCNS) is a rare autosomal dominant condition best known for the development of early and multiple basal cell carcinomas (BCCs). Because the condition requires lifetime surveillance for new cancers, an efficient method of identification and treatment is desirable, especially in children. Dermoscopy and carbon dioxide laser have previously been shown to be effective in the identification and treatment, respectively, of BCCs in BCNS. We present here a case illustrating that the use of these modalities in a single session provides patients with safe and effective treatment that is efficient, cosmetically acceptable, and minimally disruptive to their lives., (© 2015 Wiley Periodicals, Inc.)

A medical geneticist who has an interest in craniofacial anomalies forms a natural partnership with an oral and maxillofacial surgeon, which facilitates patient care. Using complementary diagnostic and therapeutic skills, the search for a recognizable pattern can lead to a syndrome diagnosis. After the initial examination, there is usually genetic testing to confirm the clinical diagnosis. Once established, care coordination and genetic counseling can be provided for the parents and the patient. Enrolling the patient into a research study could be helpful to understand the diagnosis but, in some circumstances, might not have immediate clinical relevance. A multidisciplinary craniofacial team is generally necessary for long-term management. This article discusses illustrative patients evaluated from 2007 through 2011 with the senior oral and maxillofacial surgeon at the Massachusetts General Hospital (Leonard B. Kaban, DMD, MD). These include single patients with the Nablus mask-like facies syndrome and auriculo-condylar syndrome and a series of 20 patients with Gorlin syndrome followed by a multispecialty team. A successful collaboration between a medical geneticist and an oral and maxillofacial surgeon optimizes the treatment of patients with craniofacial anomalies., (Copyright © 2015 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.)

Purpose: To analyze the clinical and radiographic manifestations of nevoid basal cell carcinoma syndrome (NBCCS) with a particular emphasis on the presence, treatment, and outcomes of keratocystic odontogenic tumors (KOTs) in these patients., Patients and Methods: The authors implemented a prospective case series and enrolled a sample of patients with KOTs and NBCCS. The primary study variables were the demographics, treatment, and outcomes of managing KOTs in this sample. Descriptive statistics were computed., Results: The sample was composed of 16 patients (10 male and 6 female; mean age, 24 yr). These patients presented with 32 previously untreated KOTs. Fifteen patients with 31 KOTs consented to surgery that consisted of a total of 61 procedures during the study period. These procedures included 19 primary enucleation and curettage surgeries and 12 marsupialization procedures followed by secondary enucleation and curettage surgeries. During the course of clinical and radiographic follow-up examinations, 14 new primary and 5 persistent KOTs (refractory to enucleation and curettage surgeries) were diagnosed, of which 13 new primary KOTs and 5 persistent KOTs were treated. A total of 51 KOTs (32 primary, 14 new lesions that developed during follow-up, and 5 persistent lesions) were diagnosed, and 15 patients consented to operative treatment of 49 KOTs. Forty-eight enucleation and curettage surgeries were performed for 49 KOTs that showed effective treatment without persistence in 43 cases (90%) during a follow-up period from 2 to 20 years (mean, 7 yr). One resection was performed for a persistent KOT. The 5-year disease-free estimate after primary enucleation and curettage was 86% (95% confidence interval, 74.8-97.4). Other clinical and radiographic stigmata of the syndrome were diagnosed, including calcified falx cerebri, frontal bossing, hypertelorism, multiple basal cell carcinomas, and others., Conclusions: The results of this study identify the variable expressivity of this syndrome and the favorable outcomes of marsupialization and enucleation and curettage of syndromic KOTs., (Copyright © 2015 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.)

Gorlin-Goltz syndrome is a rare hereditary multisystemic disease. Multiple basal cell carcinomas, odontogenic keratocysts, and skeletal abnormalities are the main clinical manifestations of the syndrome, but several organs can be involved. Moreover, this condition is associated with the development of various benign and malignant tumors, even in the genital tract. This report describes a rare association between Gorlin-Goltz syndrome and the sclerosing stromal tumor of the ovary. Because the ultrasound and magnetic resonance imaging patterns of this tumor can be similar to those of a malignant neoplasm, prompt surgical intervention and histological confirmation of diagnosis is mandatory; however, this is a benign lesion and thus can be approached with a laparoscopic fertility-sparing surgery. Gynecologists should be aware of this possible association to provide appropriate counseling for these women, and to take a fertility-sparing laparoscopic approach whenever possible., (Copyright © 2015 AAGL. Published by Elsevier Inc. All rights reserved.)

Basal cell nevus syndrome (aka Gorlin syndrome, Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, and fifth phacomatosis) is a rare but well-described autosomal dominant condition with variable penetrance. We present a female patient who has been successfully treated using local surgical excision and diligent skin surveillance for more than 4 decades, demonstrating that simple local incision is an efficacious and reasonable surgical alternative that may circumvent the specialization and expense of Mohs technique.

Gorlin-Goltz syndrome is a rare hereditary disease that can have negative effects on one's quality of life. The main clinical features are multiple nevoid basal cell carcinomas, odontogenic keratocysts, congenital skeletal abnormalities, calcification of the falx cerebri, facial dysmorphism, and skin depressions (pits) on the palms and soles. Diagnosis is based on major and minor clinical and radiological criteria and can be confirmed by DNA analysis. This article describes the case of a child with Gorlin-Goltz syndrome and outlines the clinical manifestations of the disease.

A 12 years old girl was presented with bilateral swellings on angle and body of mandible. On general physical examination, there were polydactyly and papular lesions on arm. Histopathology of mandibular lesions revealed odontogenic keratocysts. Marsupialization of the cysts followed by enucleation was done. The patient was reviewed every six months and there was no recurrence at the end of two years.

Background: Keratocystic odontogenic tumors (KCOTs) are locally aggressive benign tumors which occur in the bones of both jaws with a high recurrence rate. The aim of the present study was to define and evaluate the post-treatment recurrence of KCOT lesions in non-syndromic and syndromic patients., Methods: A systematic review of the literature and meta-analysis was conducted according to the PRISMA statement. Seven electronic databases were searched from their start up to August 2013 for clinical studies on human patients without limitation to year, language or publication status., Results: A total of five case series studies with 323 treated KCOT lesions were included in the quantitative synthesis. The recurrence rate of KCOTs for three treatment forms ranged from 7% to 28%. Comparisons among the various treatments suggest that resection or marsupialization might be associated with fewer recurrences. However, high risk of bias and effect imprecision preclude the making of clinical recommendation. Existing evidence regarding nevoid basal cell carcinoma patients was likewise scarce., Conclusions: The absence of studies with low risk of bias precludes the making of safe recommendations about the optimal management of KCOTs., (Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

Objective: Peripheral odontogenic keratocyst (POKC) is a rare gingival cyst showing histologic features identical to those of keratocystic odontogenic tumor. A rare case of POKC associated with nevoid basal cell carcinoma syndrome (NBCCS) is presented., Study Design: A 24-year-old woman with NBCCS presented with a pigmented papule, 3 mm in size, involving the lingual gingiva of the right canine area of the mandible. Based on a clinical diagnosis of benign pigmentation, an excisional biopsy was performed, and a histopathologic diagnosis of POKC was rendered., Results: The lining cells were positive for the proteins GLI2, BCL2, keratin 8, keratin 17, and mTOR. TP53 and Ber-EP4 were also weakly positive. Gene mutational analysis on a buccal swab sample revealed 2 missense mutations in the PTCH1 gene., Conclusions: This case is a distinctive example of a genuine soft tissue counterpart of keratocystic odontogenic tumor, in which an aberrant PTCH1-GLI pathway played a considerable role in the pathogenesis., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Basal cell nevus syndrome is an autosomal dominant disorder characterized by the developmental malformations and its carcinogenic nature. This syndrome shows various symptoms of multiple cutaneous basal cell carcinoma, ketatocystic odontogenic tumors, and inborn abnormalities in the bone and skin. Although basal cell nevus syndrome itself is a rare disorder, we experienced a very rare case in which squamous cell carcinoma of the oral cavity developed, and not cutaneous basal cell carcinoma. Only 4 similar cases have been reported in the English literature. The patient was a 33-year-old woman. She was diagnosed as having squamous cell carcinoma of the hard palate, and basal cell nevus syndrome in our hospital. The patient underwent surgery for squamous cell carcinoma of the hard palate, with postoperative chemoradiothetrapy. Since patients with this syndrome tend to form basal cell carcinoma when exposed to X-ray radiation, we perform radiotherapy with care.

Background: Metastatic basal cell carcinoma (MBCC) is defined as primary cutaneous basal cell carcinoma (BCC) that spreads to distant sites as histologically similar metastatic deposits of BCC. BCCs are semimalignant, destructive, and invasive. Metastases are very rare, with an incidence of 0.0028%-0.5%., Case Report: A female patient with Gorlin-Goltz syndrome and a rare case of a basal cell carcinoma with an additional regional lymph node metastasis is presented., Conclusions: This case highlights the importance of a multidisciplinary approach to and frequent monitoring of patients with Gorlin-Goltz syndrome. Early diagnosis and surgical treatment are still the treatment of first choice., (Copyright © 2014 Elsevier Inc. All rights reserved.)

According to the 2005 WHO classification of head neck tumors the parakeratinized form of the odontogenic keratocyst (primordial cyst) is listed as benign odontogenic tumor and is classified as keratocystic odontogenic tumor (KCOT). In this short communication the surgical regimen as well as KCOT as an entity are discussed., (© Georg Thieme Verlag KG Stuttgart · New York.)

The keratocystic odontogenic tumor (KCOT) is a benign developmental tumor with many distinguishing clinical and histologic features. Usually, multiple KCOTs occur as a component of nevoid basal cell carcinoma syndrome. The odontogenic myxoma is a rare benign tumor that represents about 3% of all odontogenic tumors. This article reports the case of mandible odontogenic myxoma with synchronous occurrence of multiple KCOTs, partial expression of nevoid basal cell carcinoma syndrome. A review of the international literature is also presented.

Swinglock dentures are used relatively infrequently but in cases of compromised anatomy or where the pattern of tooth loss is unfavourable, they provide a useful removable partial denture design option. The aim of this article is to provide a clear summary of the clinical and technical considerations necessary when providing a Swinglock denture.

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by a very wide spectrum of clinical signs and symptoms. Here, we report an unusual case of NBCCS in a 38-year-old man with an early onset of clinical signs and symptoms and an associated unicystic ameloblastoma, histopathologically showing basaloid differentiation and intraluminal growth. The odontogenic tumor was surgically enucleated and recurred at the follow-up at 14 months. The proband and his child were identified as gene carriers of the novel K729M PTCH1 missense mutation; other first- and second-degree relatives presented clinical features of NBCCS. Only five other cases of association between ameloblastoma and NBCCS have been reported so far, suggesting that PTCH1 missense mutation might take part in the pathogenesis of keratocystic odontogenic tumors (KCOTs) as well as ameloblastomas., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Gorlin syndrome, also called nevoid basal cell carcinoma syndrome, is well known by dermatologists. Since its onset, 10 years ago, photodynamic therapy has found new applications and is now currently used to cure single or multiple basal cell carcinomas, with good results and without residual scars. We recall some of the basic principles of this technique, as well as its indications in Gorlin syndrome, which we illustrate with one case. Plastic surgeons must consider this relatively new technique, developed by dermatologists, as a useful adjunct to surgery in the management of Gorlin syndrome., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

This article presents a case with nevoid basal cell carcinoma syndrome (NBCCS) and an elongated styloid process. Basal cell carcinoma syndrome, also known as Gorlin-Goltz syndrome, is an autosomal dominant inherited syndrome manifested by multiple defects involving the skin, nervous system, eyes, endocrine system, and bones. Elongated styloid process or calcified stylohyoid ligament cause craniofacial or cervical pain. The actual cause of elongation of the styloid process or the calcification of the stylohyoid ligament is unclear. The cause of elongation of styloid process in this case may be the calcification induced by NBCCS. This report is the first case presentation of NBCCS with elongated styloid process. Elongated styloid process might be described as an anomaly of an NBCCS.

In a prospective study, a large number of patients with basal cell carcinomas (BCCs) and squamous cell carcinomas (SCCs) underwent surgery using three dimensional (3D) histology and were evaluated with respect to local recurrence. The excised tumours were treated using 3D-histology with a routine paraffin procedure until the surgical margins were clear of tumour. Prospective evaluation of recurrence-free survival and overall survival of 5227 primary BCCs in 3320 patients and 615 invasive primary SCCs in 600 patients was conducted in the form of a letter-based follow-up with feedback from the patients and the referring physicians. The mean follow-up period was 5 years. In the BCC collective, 36 out of 3320 patients developed local recurrence (1%, calculated as a percentage of treated BCCs: 0.7%). In the SCC collective, 20 local recurrences appeared (3%). The recurrence rate for SCCs with desmoplasia was 24%, whilst the recurrence rate for common types of SCC without desmoplasia was 1%. Surgery followed by 3D histology results in very low recurrence rates for BCC and SCC with no additional effort compared with the normal histopathological procedure., (Copyright © 2011 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.)

Objective: To report a case of bilateral ovarian fibromas and ovarian leiomyomas in a young patient with Gorlin syndrome and to highlight issues of fertility preservation, ovarian conservation, and preimplantation genetic diagnosis in this population., Design: Case report., Setting: University hospital., Patient(s): A 15-year-old female patient with Gorlin syndrome and bilateral ovarian masses., Intervention(s): Ultrasound, magnetic resonance imaging, hormone analysis, and laparotomy with resection of ovarian fibromas., Main Outcome Measure(s): Preservation of ovarian function, pathologic diagnosis., Result(s): Our patient represented an adolescent case of bilateral ovarian fibromas and leiomyomas in Gorlin syndrome presenting with menstrual irregularities. She was managed surgically with resection of the lesions and conservation of normal ovarian tissue., Conclusion(s): In Gorlin syndrome, ovarian fibromas are a common clinical manifestation. Patients with ovarian involvement may present with complex gynecologic needs and may have decreased fertility potential. Careful surgical management, follow-up, and counseling on options for future fertility should be offered to all patients., (Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

Background and Objective: Basal Cell Nevus syndrome (BCNS) is characterized by numerous basal cell carcinomas (BCCs). Multiple treatments with the pulsed dye laser (PDL) have been shown, in small studies, to be effective for the treatment of superficial and nodular BCCs. Like PDL, the alexandrite laser can be vessel-selective, but has the added advantage of deeper tissue penetration. We evaluated the utility of the alexandrite laser in reducing the tumor burden in BCNS with a single treatment., Study Design/materials and Methods: A case report and review of the literature are presented. A 45-year-old man with BCNS and a history of radiation therapy presented with an extraordinarily high tumor burden (>250 BCCs). As a compassionate measure to reduce the tumor burden, we investigated the utility of a single treatment of the long-pulsed 755 nm alexandrite laser to several BCC lesions. The treated lesions were evaluated at 2-month and 7-month clinical follow-up. Histopathologic analysis of a treated lesion was performed at 7-month clinical follow-up., Results: At 2-month, and 7-month clinical follow-up, 15 of 18 treated lesions or about 83% of the alexandrite laser treated lesions showed a complete clinical response and appeared as hypopigmented areas with scarring. Histopathologic analysis of a treated lesion at 7-month clinical follow-up showed no evidence of residual tumor., Conclusions: The long-pulsed alexandrite laser may be helpful in significantly reducing tumor burden in difficult to manage BCNS patients with a single treatment. This provides a facile and practical treatment alternative for the management of challenging cases of BCNS. The limitation of this study is that it is a single case observation. Larger, prospective studies are needed to confirm these observations., (Copyright © 2011 Wiley-Liss, Inc.)

We report a case of multiple ovarian fibromas in a 23 year old woman with Gorlin syndrome. We describe the US and MR imaging features with pathological correlation. The fibrous component of the tumors were hypoechoic and attenuating on US with corresponding T2W hypointensity whereas myxoid components were hypoechoic with increased through transmission on US with corresponding T2W hyperintensity.