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Linked Comment: E. Epstein. Br J Dermatol 2022; 186:203. Plain language summary available online

Antonietta Moramarco,1,* Ludovico Alisi,1,* Alessandro Lambiase,1 Sandra Giustini,2 Luca Lucchino,1 Emanuele Miraglia,2 Vincenzo Roberti,2 Marcella Nebbioso1 1Department of Sense Organs, Faculty of Medicine and Odontology, Sapienza University of Rome, Rome, 00161, Italy; 2Department of Dermatology, Sapienza University of Rome, Rome, 00185, Italy*These authors contributed equally to this workCorrespondence: Alessandro LambiaseDepartment of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, Rome, 00161, ItalyTel +39 06 49975357Fax +39 06 49975425Email alessandro.lambiase@uniroma1.itIntroduction: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published.Purpose: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies.Methods: Nineteen NBCCS patients (31 eyes) and 20 healthy controls (40 eyes) have been recruited for this study. All subjects underwent an evaluation of the functionality of the optic pathways through pVEPs with small (120ʹ), medium (60ʹ), and large (15ʹ) check size stimulation.Results: NBCCS patients showed a statistically significant alteration in the transmission of the macular pathway function when compared to controls. PVEPs analysis confirmed a reduced amplitude and an increased latency of the P100 component, suggesting an involvement of the visual pathway even in the absence of ocular clinical manifestations.Conclusion: Visual pathways may have been affected both by a subclinical myelination deficit, determined directly by the genetic alteration, as well as by neurological abnormalities typical of this syndrome. Further studies are warranted.Keywords: Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, pattern visual evoked potentials, rare diseases, electrophysiology, visual pathway, genodermatosis, PATCH1

Aim and objective To report a unique presentation of Gorlin–Goltz syndrome (GGS) with congenital glaucoma. Materials and methods We report a case of a 3-month-old female patient with bilateral uncontrolled intraocular pressures (IOP), who was already diagnosed with GGS. Examination under anesthesia demonstrated microcornea, iris coloboma, lens subluxation in both eyes, and edematous cornea in the left eye. Intraocular pressure was 17 mm Hg in OD and 35 mm Hg in OS with Icare (Icare® PRO) tonometer on repetitive measurements. On dilated fundus examination, a large chorioretinal coloboma was seen on both eyes. Results On physical examination, cutaneous, dental, and skeletal anomalies associated with the GGS were found. As previously reported ocular abnormalities associated with the GGS; coloboma and microphthalmia were noted. In addition, congenital glaucoma which is not one of the known associations of GGS was also detected. For treatment, 270° transscleral diode cyclophotoablation was performed for the left eye and medical treatment was reorganized for both eyes. Conclusion Neonatal-onset glaucoma might be one of the important ocular manifestations of GGS. How to cite this article Tefon Arıbaş AB, Aktaş Z, Özdek Ş. Neonatal Onset Glaucoma in a Case with Gorlin–Goltz Syndrome: An Unusual Association. J Curr Glaucoma Pract 2021;15(2):99–101.

Nevoid basal cell carcinoma syndrome is a hereditary condition associated with a wide range of developmental anomalies as well as increased risk of certain neoplasms. It is more commonly known as Gorlin–Goltz syndrome (GGS). We report a case of GGS with classic clinical and imaging findings of multiple odontogenic keratocysts (OKCs) in the jaw, calcification of falx cerebri, and bifid ribs. The findings of restricted diffusion within OKCs on diffusion-weighted imaging are also described.

Background Gorlin syndrome, also known as Gorlin-Goltz syndrome (GGS) or basal cell nevus syndrome (BCNS) or nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant familial cancer syndrome. It is characterized by the presence of numerous basal cell carcinomas (BCCs), along with skeletal, ophthalmic, and neurological abnormalities. It is essential to anticipate the diagnosis by identifying the pathology through the available diagnostic tests, clinical signs, and radiological manifestations, setting up an adequate treatment plan. Main body In the first part, we searched recent databases including MEDLINE (PubMed), Embase, and the Cochrane Library by analyzing the etiopathogenesis of the disease, identifying the genetic alterations underlying them. Subsequently, we defined what are, to date, the major and minor clinical diagnostic criteria, the possible genetic tests to be performed, and the pathologies with which to perform differential diagnosis. The radiological investigations were reviewed based on the most recent literature, and in the second part, we performed a review regarding the existing jawbone protocols, treating simple enucleation, enucleation with bone curettage in association or not with topical use of cytotoxic chemicals, and “en bloc” resection followed by possible bone reconstruction, marsupialization, decompression, and cryotherapy. Conclusion To promote the most efficient and accurate management of GGS, this article summarizes the clinical features of the disease, pathogenesis, diagnostic criteria, differential diagnosis, and surgical protocols. To arrive at an early diagnosis of the syndrome, it would be advisable to perform radiographic and clinical examinations from the young age of the patient. The management of the patient with GGS requires a multidisciplinary approach ensuring an adequate quality of life and effective treatment of symptoms.

Introdução: O queratoquisto odontogénico (QO) é uma lesão quística benigna que pode comprometer a qualidade de vida de um paciente caso não seja diagnosticada com antecedência. Pode estar associada ao Sindroma de Gorlin-Goltz, com alterações sistemáticas típicas nomeadamente ósseas e na pele como nevos basocelulares. Porém, a constante evolução das técnicas cirúrgicas têm permitido uma diminuição das taxas de recorrência. Objetivo: Investigar a taxa de recorrência geral de QO em todo o mundo e comparar a probabilidade de recorrência para os diferentes tipos de tratamento, em pacientes com síndrome com QO isolados ou com síndrome de Gorlin-Goltz. Pretende-se avaliar, qual o melhor método cirúrgico capaz de diminuir o risco de recorrência de QO. Material e métodos: Realizou-se uma revisão sistemática através de uma pesquisa bibliográfica, nas bases e dados PubMed com artigos publicados de 1972 a 2021. Foram aplicadas diferentes combinações de palavras-chaves incluindo terminologias relacionadas com "odontogenic keratocyst” e "Gorlin-Goltz syndrome" e "recurrence” e "treatment outcome". De entre 356 artigos, foram selecionados 48 artigos para a revisão. Resultados: A resseção é a técnica que apresenta maior sucesso, contudo é associada a elevada morbilidade. O tratamento apenas por técnica única de marsupialização, apresenta resultados limitados, Porém, este método quando associado à enucleação diminui a recorrência. Salienta-se que características genéticas do paciente, podem influenciar o seu prognóstico, onde a presença de síndroma de Gorlin-Goltz aumenta a recorrência destas lesões. Conclusão: A investigação no tratamento dos QO deve ser estimulada e desenvolvida para obtenção de melhores resultados no prognóstico destes doentes. No entanto, a combinação de técnicas como a marsupialização seguida de enucleação parece ser mais vezes reportada como associada a boas taxas de sucesso no tratamento.

Basal cell carcinoma (BCC) is the most common form of skin cancer, affecting more often elderly patients, but sometimes even younger ones, particularly if immunocompromised or genetically predisposed. Specifically, the Gorlin-Goltz syndrome, an autosomal dominant genodermatosis, also known as nevoid basal cell carcinoma syndrome, characterizes for multiple early onset BCCs. It is caused by a germline mutation in PTCH1, a tumor suppressor gene whose product is the key component of Hedgehog (Hh) signaling pathway, which also appears somatically mutated in more than 85% of sporadic BCCs. Hh pathway inhibitors vismodegib and sonidegib are currently indicated for BCC, in adults with advanced or recurred tumor following surgery or radiation therapy. The principal mechanism of action of these drugs is the inhibition of Smoothened (SMO), a transmembrane protein involved in Hh signal transduction, that plays a role in both cellular differentiation and cancer development. Some studies have reported effects of Hh pathway inhibitors at different levels of the immune response, from cytotoxic T cells to a modified local cytokines pattern. Given the specific relation between immune system and BCC development in some conditions, we will review BCC with focus on immune system changes mediated by Hh signaling pathway and induced by the inhibitors vismodegib and sonidegib in the treatment of BCC. Thus, we will give an overview of their effects on the local immune response, as well as a brief note on the supposed function of Hh pathway inhibition on the systemic one.

Introduction Gorlin Goltz syndrome (GGS) is a rare, hereditary, AD condition with multiple BCCs, odontogenic keratocysts (Jaw cysts), calcification of falx cerebri, skeletal anomalies & a predisposition to neoplasms like medulloblastomas, fibromas and rhabdomyosarcomas. Aim We present a rare case of a Squamous cell carcinoma (SCC) developing in a Maxillary odontogenic keratocyst in a 32-year male with GGS. Discussion This patient was referred to the OMFS unit with a non-healing UL3 extraction socket and exophytic growth. Initial biopsies suggested an atypical squamo-proliferative lesion, however a repeat biopsy demonstrated an invasive SCC arising from a background odontogenic keratocyst of the maxilla. He was initially reluctant to undergo a staging CT scan to avoid risks of developing further BCCs due to IR exposure. This was eventually performed as per H&N MDT recommendation & showed a T4aN0M0 SCC of the left maxilla and bilateral multiple mandibular odontogenic keratocysts. He underwent a left maxillectomy, left neck dissection & reconstruction with a DCIA free flap, but did not want his mandibular keratocysts treated at the same time. Complete tumour clearance was achieved with no involved neck nodes & he remains disease-free at 4 months postoperatively. Although for a T4 tumour he would have needed postoperative radiotherapy, in view of the GGS, no adjuvant treatment was indicated. Conclusions SCC developing in a maxillary OKC is exceedingly rare with only two previous cases reported in GG syndrome. This is the first reported case of a GGS patient with oral SCC undergoing a complex free flap reconstruction.

Absztrakt: A Gorlin–Goltz-szindróma autoszomális dominánsan öröklődő kórkép. Vezető tünetei az állcsontok keratocystái, a multiplex basaliomák, csontvázfejlődési rendellenességek, intracranialis calcificatio és tenyéri, talpi dyskeratosis. A szindróma egyik leggyakoribb és sokszor először észrevehető tünete az állcsonti keratocysta. A szerzők munkájukban egy fogszabályozó osztályon diagnosztizált és kezelt gyermek esetét mutatják be. A betegség ritka előfordulása ellenére fontos a korai, fiatalkorban történő felismerés. A betegek rendszeres gondozásával megelőzhetők az akár életet veszélyeztető elváltozások és a radikális műtéttel járó kezelések. Orv Hetil. 2020; 161(2): 67–74.

Gorlin–Goltz syndrome, is an uncommon genetic condition characterized by the presence of multiple odontogenic keratocysts of jaws along with several other abnormal, cutaneous, ophthalmic, and osseous displays. This syndrome is also acknowledged by various names, such as nevoid basal cell carcinoma syndrome, jaw cyst, and bifid rib syndrome. This article illustrates about the clinical, radiological, and histological diagnostic findings and the multidisciplinary approach of treatment given to one such rare case of Gorlin–Goltz syndrome.

Cutaneous findings that appear in childhood may be the first sign of a hereditary tumor syndrome. Early detection of genodermatoses allows the patient and at-risk family members to be screened for associated malignancies. This article provides a brief description of the pathogenesis and clinical manifestations of various inherited disorders with skin involvement, along with treatment updates. Advances in molecular-based therapy have spurred development of novel treatment methods for various genodermatoses such as xeroderma pigmentosum (XP) and Gorlin-Goltz syndrome. Further studies are needed to better assess the efficacy of many of these new treatment options.

Background: Keratocystic odontogenic tumors (KOT) have a high rate of recurrence, which is higher in patients diagnosed with Gorlin-Goltz syndrome (GGS). Adjunctive therapies, such as fixative chemical solutions, decrease the rate of recurrence after enucleation and peripheral ostectomy but have high morbidity rates. Topical 5-Fluorouracil (5-FU) has been suggested as a new therapy that provides a directed molecular approach to treatment. Case Presentation: This is a case report of GGS treated using topical 5-FU as an adjunctive material after enucleation and peripheral ostectomy. New bone formation sites were identified in the radiographic follow-up. The patient was followed up for 10 months regularly without any evidence of recurrence. Conclusion: 5-FlU is an effective and novel targeted treatment for KOTs. Topical application of 5-FU, following enucleation and peripheral ostectomy, effectively treats syndromic KOTs, resulting in normal bony healing with no adverse local or systemic effects.

A 29-year-old male visited the outpatient department of Acharya Vinoba Bhave Rural Hospital, Sawangi with chief complaints of swelling in the left lower jaw for 15 days. He had a past history of similar swelling on the right side of the jaw, for which he underwent intervention. The patient was referred from oral surgery to the Department of Radiodiagnosis for computed tomography scan of head and neck to know the extension of the lesion and underlying bony erosion. There was no significant family history or cutaneous manifestations. On computed tomography, there were multiple cystic lesions in the left hemimandible and maxilla. Histopathology revealed it to be Odontogenic keratocysts. Other findings included bilamellar falx cerebri and tentorium cerebelli calcifications, bridging sella, intracranial lipoma, spina bifida of C6 vertebra. The scalp was thickened with multiple foci of calcifications. Diagnosis of Gorlin-Goltz syndrome was made.

Introduction: Gorlin-Goltz syndrome (GGS), or basal cell nevus syndrome (BCNS), is a rare genetic disease that induces the development of odontogenic keratocysts, skeletal malformations and neoplasms, especially multiple and recurrent basal cell carcinomas (BCC). This condition is rare in black people, being reported in this population in only 5% of the cases. Case presentation: A 68-year-old black man reported the constant appearance for approximately 4 years of multiple papules and non-pruritic and non-desquamating skin plaques, with hyperpigmented margins, of different sizes that grew gradually in scalp, left lower eyelid, arms, forearms, back, and lower limbs. Histopathological study showed multiple BCC, and imaging studies identified calcifications in the tentorium cerebelli and cerebral falx, as well as images suggestive of odontogenic cysts. Based on his clinical history, histopathologic and imaging findings, and physical examination, he was diagnosed with GGS. Conclusions: This is the first case of GGS in an older black adult reported in Colombia. This case highlights the relevance of reviewing the medical records and performing a thorough physical examination when approaching the patient, as well as doing a comprehensive geriatric assessment, since they are key to diagnose this rare disease and initiate a timely multidisciplinary treatment. This will allow obtaining better outcomes in these patients. Resumen Introducción. El síndrome de Gorlin-Goltz (SGG), o síndrome del nevo basocelular, es una enfermedad genética rara que induce el desarrollo de queratoquistes odontogénicos, malformaciones esqueléticas y neoplasias, especialmente carcinomas basocelulares (CBC) múltiples y recurrentes. Esta condición es infrecuente en personas de raza negra, reportándose en esta población solo en el 5% de los casos. Presentación del caso. Hombre de 68 años de raza negra, quien reportó la constante aparición, durante aproximadamente 4 años, de múltiples pápulas y placas no pruriginosas ni descamativas, de bordes hiperpigmentados, de diferentes dimensiones y de crecimiento gradual en cuero cabelludo, párpado inferior izquierdo, brazos, antebrazos, dorso y miembros inferiores. El estudio histopatológico evidenció múltiples CBC y en los estudios de imagen se identificaron calcificaciones en el tentorium cerebelli y la hoz del cerebro, así como imágenes sugestivas de quistes odontogénicos. Teniendo en cuenta la historia clínica, los hallazgos histopatológicos e imagenológicos y el examen físico, se diagnosticó con SGG. Conclusiones. Este el primer caso de SGG en un adulto mayor de raza negra reportado en Colombia. En este caso se resalta la importancia de la revisión de la historia clínica y el examen físico al momento de abordar un paciente, así como de una valoración geriátrica integral, ya que son fundamentales para diagnosticar esta rara enfermedad y poder iniciar un manejo multidisciplinario temprano, lo que permitirá obtener mejores resultados en estos pacientes.

Antonietta Moramarco,1,* Ludovico Alisi,1,* Alessandro Lambiase,1 Sandra Giustini,2 Luca Lucchino,1 Emanuele Miraglia,2 Vincenzo Roberti,2 Marcella Nebbioso1 1Department of Sense Organs, Faculty of Medicine and Odontology, Sapienza University of Rome, Rome, 00161, Italy; 2Department of Dermatology, Sapienza University of Rome, Rome, 00185, Italy*These authors contributed equally to this workCorrespondence: Alessandro LambiaseDepartment of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, Rome, 00161, ItalyTel +39 06 49975357Fax +39 06 49975425Email alessandro.lambiase@uniroma1.itIntroduction: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published.Purpose: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies.Methods: Nineteen NBCCS patients (31 eyes) and 20 healthy controls (40 eyes) have been recruited for this study. All subjects underwent an evaluation of the functionality of the optic pathways through pVEPs with small (120ʹ), medium (60ʹ), and large (15ʹ) check size stimulation.Results: NBCCS patients showed a statistically significant alteration in the transmission of the macular pathway function when compared to controls. PVEPs analysis confirmed a reduced amplitude and an increased latency of the P100 component, suggesting an involvement of the visual pathway even in the absence of ocular clinical manifestations.Conclusion: Visual pathways may have been affected both by a subclinical myelination deficit, determined directly by the genetic alteration, as well as by neurological abnormalities typical of this syndrome. Further studies are warranted.Keywords: Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, pattern visual evoked potentials, rare diseases, electrophysiology, visual pathway, genodermatosis, PATCH1

Introduction: Gorlin-Goltz syndrome is also referred to as basal cell nevus syndrome or basal cell nevoid carcinoma syndrome. This is a rare autosomal dominant inherited disorder caused by mutation in the PTCH1 tumor suppressor gene. Case report: A 15-year-old male patient sought the Maxillofacial Surgery service, reporting mild pain in the right retromolar region, and an orthopantomography was requested, noting the presence 1 maxillary injury and 2 mandible injuries (left and right), all associated with impacted teeth. In the investigation, we found calcification of the cerebral scythe, pontification of the turgical saddle, and depressions in the sole of the feet. Enucleation and curettage of maxillary lesions and removal of impacted teeth were performed. At histopathological examination, Odontogenic Keratocyst was diagnosed. Discussion: SGG is a neurocutaneous disorder that manifests mainly in young patients without gender preference. Kimonis et Al (1997) determine a form of diagnosis by the presence of larger and smaller criteria. In the reported case, three major and one minor criteria were found. It is concluded, therefore, that despite the several diagnostic findings, the most relevant for the maxillofacial surgeon are the keratocysts, which have a high recurrence and destruction power, being present in 70% of the SGG cases. more frequent in the jaw and associated with teeth included. So far, the diagnosis and treatment of the case mentioned has been satisfactory, and a multidisciplinary follow-up is also required. Introducción: El síndrome de Gorlin-Goltz también se denomina síndrome de nevo de células basales o síndrome de carcinoma nevoide de células basales. Se trata de un trastorno hereditario autosómico dominante poco común, causado por la mutación en el gen supresor de tumores PTCH1. Caso clínico: Paciente masculino de 15 años que acude al servicio de Cirugía y Traumatología Buco-Maxilofacial, refiriendo dolor leve en región retromolar derecha, solicitando ortopantomografía, constatando la presencia lesión en el maxilar y lesiones en la mandíbula, todas asociadas con dientes retenidos. En la investigación se encontró calcificación de la hoz cerebral, pontificación de la montura turca y depresiones en la región plantar de los pies. Se realizó la enucleación y legrado de las lesiones maxilares y la extracción de los dientes retenidos. El examen histopatológico reveló un queratoquiste odontogénico. Discusión: SGG consiste en un trastorno neurocutáneo, que se manifiesta principalmente en pacientes jóvenes, sin predilección de género. Kimonis et al (1997) determinan una forma de diagnóstico mediante la presencia de criterios mayores y menores. En el caso reportado, se encontraron tres criterios mayores y un criterio menor. Se concluye, por tanto, que a pesar de los diversos hallazgos diagnósticos, los más relevantes para el cirujano buccomaxilofacial son los queratoquistes, que tienen un alto poder de recurrencia y destrucción, estando presentes en el 70% de los casos de SGG, siendo más frecuente en la mandíbula y asociado a dientes incluidos. Hasta el momento, el diagnóstico y tratamiento del caso mencionado ha sido satisfactorio, requiriendo un seguimiento multiprofesional. Introdução: A síndrome de Gorlin-Goltz é também denominada de síndrome do nevo basocelular ou síndrome do carcinoma nevóide de células basais. Esta é uma rara desordem hereditária autossômica dominante, causada pela mutação no gene supressor de tumor PTCH1. Relato de caso: Paciente do gênero masculino, 15 anos de idade, procurou o serviço de Cirurgia e Traumatologia Buco-Maxilo-Facial, relatando dores discretas na região retromolar direita, sendo solicitada uma ortopantomografia, notando-se a presença de 1 lesão na maxila e 2 lesões na mandíbula (esquerda e direita), todas associadas a dentes impactados. Na investigação, encontrou-se calcificação da foice cerebral, pontificação da sela túrcica, e depressões na região plantar dos pés. Foi realizada a enucleação e curetagem das lesões maxilares e remoção dos dentes impactados. Ao exame histopatológico, foi diagnosticado Ceratocisto Odontogênico. Discussão: A SGG consiste em um transtorno neurocutâneo, que se manifesta principalmente em pacientes jovens, sem predileção por gênero. Kimonis et Al (1997) determinam uma forma de diagnóstico através da presença de critérios maiores e critérios menores. No caso relatado foi encontrado três critérios maiores e um critério menor. Conclui-se, portanto, que apesar dos diversos achados para diagnóstico, o de maior relevância para o cirurgião Buco-Maxilo-Facial são os ceratocistos, tendo um alto poder de recidiva e destruição, estando presente em 70% dos casos de SGG, sendo mais frequente na mandíbula e associado a dentes inclusos. Até o momento, o diagnóstico e tratamento do caso mencionado foi satisfatório, fazendo-se necessário também um acompanhamento multiprofissional.

Gorlin Goltz syndrome is a rare and autosomal dominant genetic condition that affects several organs and systems, and basal cell carcinomas, odontogenic keratocysts, bone and neurological structural abnormalities can be identified. The objective of this work is to elucidate the main criteria for the correct diagnosis and to expose a surgical clinical case. Male patient, 14 years old, leucoderma, presented with a complaint of severe headache and visual impairment. The physical examination revealed an increase in chest diameter, low implantation of the ears, hypertelorism and asymmetry of the face on the left side. The face and skull tomography revealed calcification of the falx cerebri and multiple lesions in the gnathic bones. On chest tomography, rib bifida and kyphoscoliosis were observed. The patient was evaluated by the ophthalmology team, who concluded that the visual deficit was due to the compression of the optic nerve by a large lesion in the maxilla. It was then planned and performed the decompression surgery of the maxillary lesion and enucleation of the mandibular lesions, which, through histopathology, confirmed that it was multiple keratocysts, thus defining the diagnosis of Gorlin Goltz syndrome through the identification of several criteria relevant according to Kimonis et al., 1997. In the post-surgical period, the patient had a complete remission of complaints of headache and visual impairment. Gorlin Goltz syndrome can evolve rapidly with harmful consequences for different organs, even in youngs patients, which reinforces the importance of early diagnosis and a multidisciplinary approach. El síndrome de Gorlin Goltz es una condición genética rara y autosómica dominante que afecta a varios órganos y sistemas, pudiendo identificarse carcinomas de células basales, queratoquistes, anomalías estructurales óseas y neurológicas. El objetivo de este trabajo es dilucidar los principales criterios para el correcto diagnóstico y exponer un caso clínico quirúrgico. Paciente masculino de 14 años, leucodermia, que consulta por cefalea intensa y discapacidad visual. El examen físico reveló aumento del diámetro torácico, baja implantación de las orejas, hipertelorismo y asimetría de la cara del lado izquierdo. La tomografía de rostro y cráneo reveló calcificación de la hoz cerebral y múltiples lesiones en los huesos gnáticos. En la tomografía de tórax se observó costilla bífida y cifoescoliosis. El paciente fue evaluado por el equipo de oftalmología, quien concluyó que el déficit visual se debía a la compresión del nervio óptico por una gran lesión en el maxilar. Posteriormente se planificó y realizó la cirugía de descompresión de la lesión maxilar y enucleación de las lesiones mandibulares, que mediante histopatología confirmó que se trataba de queratoquistes múltiples, definiendo así el diagnóstico de síndrome de Gorlin Goltz mediante la identificación de varios criterios relevantes según Kimonis et al., 1997. En el período posquirúrgico, el paciente tuvo una remisión completa de las quejas de dolor de cabeza y discapacidad visual. El síndrome de Gorlin Goltz puede evolucionar rápidamente con consecuencias perjudiciales para diferentes órganos, mismo en pacientes jóvenes, lo que refuerza la importancia del diagnóstico precoz y de un abordaje multidisciplinar. A síndrome de Gorlin Goltz é uma condição genética autossômica dominante e rara, que acomete diversos órgãos e sistemas, podendo ser identificados carcinomas basocelulares, ceratocistos odontogênicos, anomalias estruturais ósseas e neurológicas. O objetivo deste trabalho é elucidar os principais critérios para o correto diagnóstico e expor um caso clínico cirúrgico. Paciente do gênero masculino, 14 anos, leucoderma, apresentou-se com queixa de intensa cefaleia e déficit visual. O exame físico revelou aumento do diâmetro torácico, implantação baixa das orelhas, hipertelorismo e assimetria de face ao lado esquerdo. As tomografias de face e crânio revelaram calcificação da foice cerebral e lesões múltiplas nos ossos gnáticos. Na tomografia de tórax observou-se costela bífida e cifoescoliose. O paciente foi avaliado pela equipe de oftalmologia, que concluiu que o déficit visual ocorria devido à compressão do nervo óptico causado pela lesão de grandes proporções na maxila. Foi então planejada e realizada a cirurgia de descompressão da lesão maxilar e enucleação das lesões mandibulares, que, através da histopatologia, confirmou-se tratar de ceratocistos múltiplos, definindo assim o diagnóstico de síndrome de Gorlin Goltz através da identificação de vários critérios pertinentes, segundo Kimonis et al., 1997. No período pós-cirúrgico, o paciente apresentou remissão total das queixas de cefaleia e déficit visual. A síndrome de Gorlin Goltz, pode evoluir rapidamente com consequências nocivas para diferentes órgãos, mesmo nos pacientes jovens, o que reforça a importância do diagnóstico precoce e abordagem multiprofissional.

Introduction Conventional methods of basal cell carcinomas (BCC) treatment bring many severe side effects, especially, if they are repeated many times. The aim of this study is to present the clinical effectiveness of photodynamic method in the treatment and prevention of BCC relapses on the face and to propose a management algorithm. Methods In a patient with Gorlin-Goltz syndrome (NBCCS) lesions on the face were assessed clinically and with photodynamic diagnostics (PDD), initially and in follow-up every 3 months, for a total of 12 months. Detected BCCs were treated with photodynamic therapy 3 times every week. Results In whole follow-up period no clinical relapses were shown. However, in PDD after 6 month in one irradiated and in one initially clinically clear area red fluorescence indicating atypical foci was observed and irradiated additional one time. Discussion Photodynamic therapy is not limited by previous treatments, can be repeated without adverse events, heals multiple lesions at once and prevents new ones. Because BCC in NBCCS will occur constantly, the implementation of PDD to control the condition of the skin in long-term care should be obligatory. We indicate the validity of using the photodynamic diagnostic and therapy, as a medical procedures of choice. This article is protected by copyright. All rights reserved.

Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant disorder with multisystemic involvement. It is characterized by the triad of multiple baso-cellular epitheliomas, odontogenic keratocysts (OKC) in the jaws and skeletal anomalies. Later, it was found that calcification of falx is also highly specific. We present radiological findings in case series of two cases, one with multiple OKC, calcified falx, skin lesions, and fibrous dysplasia of sphenoid and second with multiple OKC, calcified falx, vertebral anomaly and medulloblastoma.

The occurrence of multiple odontogenic cysts in jaw bones is not a very common entity. Such occurrence should be ruled out for any association with the Gorlin–Goltz syndromes. It is important to diagnose the lesion and their associations with other features of the syndrome. Oral health care professionals play a very important role in early diagnosis and help in multidisciplinary approach to manage the condition for betterment of the patient. This paper highlights the multiple clinical manifestations of the syndrome with appropriate management strategies and recall protocols.

Gorlin-Goltz syndrome encompasses a variety of clinical signs and symptoms including important oral manifestations which general dental practitioners should be aware of. In light of the risk of malignancy it is important to be aware of this syndrome and recognise the need for early referral for multidisciplinary management. This paper aims to discuss Gorlin-Goltz syndrome, the pathophysiology of the condition and address the wide range of clinical manifestations. The author will pay particular attention to the oral manifestations of the condition and the management of such anomalies.

Objective: To present the case of a 46-year-old woman with basal cell carcinoma, odontogenic cysts, brain anomalies and skeletal abnormalities. Method: Design: Case Report Setting: Tertiary National University Hospital Patient: One Results: A 46-year-old woman consulted for a non-healing, necrotic left orbital ulcer that started as a skin-colored, papilla-like lesion on the upper eyelid. There were also hyperpigmented lesions with ill-defined borders over both paranasal areas. Tissue biopsies revealed basal cell carcinoma. Radiologic imaging showed cystic lesions in the mandible, straightening of cervical vertebrae and calcifications of the falx cerebri, tentorium cerebelli, pineal gland and choroid plexus. Based on established major and minor clinical and radiologic criteria, we arrived at a diagnosis of Gorlin Goltz Syndrome or Nevoid Basal Cell Carcinoma Syndrome (NBCCS). She underwent wide excision of the left orbital mass with exenteration, excision of left and right paranasal masses, left total parotidectomy with facial nerve preservation, enucleation of mandibular cyst, and cervicofacial reconstruction with skin grafts of the left orbital area and ala. Conclusion: NBCCS is a rare autosomal dominant disorder with a high tendency for neoplasms and developmental anomalies. Diagnosis can easily be missed if the physician is unaware of its classic but bizarre presentation. Early recognition and prompt specialist referral is very important in order to prevent complications and provide better prognosis. Patients should be reminded of the importance of follow-up as other presentations of the syndrome may manifest later in life, and family genetic screening and counseling should be undertaken. Keywords: Gorlin Goltz Syndrome; Nevoid Basal Cell Carcinoma Syndrome; odontogenic keratocyst

Most patients with basal cell cancer (BCC) can be cured if timely diagnosed. However approximately 1,3% of BCCs may develop into locally-advanced and sometimes even metastatic disease when local treatment options are limited and systemic therapy is warranted. Vismodegib was the first drug which demonstrated efficacy for the treatment of locally-advanced and metastatic BCC, inhibiting pathologically active Sonic Hedgehog (SHh) signaling pathway in tumor cells and preventing their uncontrolled proliferation.

Background and Objectives: Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenickeratocysts (OKC) and basal cell carcinomas, skeletal, dental, ophthalmic and neurological abnormalities.Material and Methods: Thirteen years old male patient came with swelling of left maxilla obliterating buccal vestibule with pus discharge for 1 month. The orthopantomograph and computed tomography scan demonstrated multiple lytic lesions in maxilla and mandible. Incisional biopsy was suggestive of odontogenickeratocyst (OKC). Besides multiple OKCs; bifid ribs, palmer pits and hypertelorism were present supporting for the diagnosis as Gorlin-Goltz Syndrome.Results: The classical treatment of KCOT with enucleation with curettage or resection would have resulted in significant morbidity. Therefore we first decompressed and then enucleated the cysts.Conclusion: Gorlin-Goltz syndrome is a rare entity and the multiple KCOT can be managed with decompression followed by enucleation.Janaki Medical College Journal of Medical Sciences (2017) Vol. 5(2): 46-50

A síndrome de Gorlin-Goltz é uma patologia hereditária, rara, autossómica dominante de penetrância completa, com expressividade variável. Caracterizada pelo aparecimento de múltiplos basaliomas, cursa, frequentemente, com o desenvolvimento de queratoquistos. Depressões palmares/plantares, calcificações da foice cerebral, anomalias esqueléticas congénitas, constituem, igualmente, critérios de diagnóstico, embora menos frequentes. Este artigo expõe dois casos clínicos, envolvendo familiares diretos, referenciados após identificação de vários basaliomas e quistos maxilares. Estabelecido o diagnóstico, perante a identificação de três critérios major, o tratamento consistiu na excisão das lesões, seguida, num dos casos, da terapêutica com vismodegib, com remissão completa. A síndrome de Gorlin-Goltz é, assim, um desafio multidisciplinar, cuja morbilidade variável e o elevado risco de recorrência tornam fundamental o tratamento e vigilância. Contudo, o aparecimento de novas terapêuticas moleculares dirigidas trazem uma nova esperança no tratamento destes doentes.

Multiple Odontogenic keratocysts with multi-organ abnormalities are a feature of Gorlin-Goltz Syndrome (GGS) which is an autosomal dominant inherited disorder. The most common oral manifestation of GGS is odontogenic keratocyst. Early diagnosis of GGS without cutaneous manifestations is important as this syndrome has basal cell carcinoma as one of its major criteria. This paper includes a case report of a 24-year-old female who reported with swelling and pus discharge in lower right posterior region. The swelling was clinico-radiologically diagnosed as odontogenic keratocyst on a panoramic radiograph which revealed the presence of multiple cystic lesions in symphysis, parasymphysis, and bilateral maxillary region. Postero-Anterior (PA) chest showed bifid ribs and PA skull showed calcification of falxcerebri. Histopathological diagnosis confirmed the Odontogenic keratocyst. Ultrasonography (USG) abdomen revealed a simple ovarian cyst on the right side. Clinical examination findings and radiological imaging evaluation with histopathological examination of cystic lesion confirms Gorlin-Goltz. Surgical enucleation of the keratocyst, peripheral ostectomy followed by bone graft substitute, and primary closure under General Anaesthesia (GA) were done in the Department of Oral and Maxillofacial Surgery. Follow-up healing was uneventful after one month.

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.

Introduction : la naevomateuse baso-cellulaire ou syndrome de Gorlin-Goltz (SGG) est une maladie génétique rare à transmission autosomique dominante, à forte pénétrance et dont l'expressivité est variable. Le SGG est défini classiquement par une triade composée de carcinomes baso-cellulaires, kératokystes odontogènes (KKO) et de malformations squelettiques. Dans le cadre du SGG, les KKO ont un comportement agressif, une multiplicité et un taux de récidive d'autant plus marquée.Matériel et méthodes : une étude observationnelle, rétrospective, uni-centrique, et analytique au CHU Estaing de Clermont-Ferrand a inclus les patients suivis dans le service de Chirurgie Maxillo-faciale et Stomatologie entre 2004 et 2019, atteints du SGG et présentant au moins un KKO. L'objectif de cette étude était d'analyser et comparer les caractéristiques des KKO aux données de la littérature anciennes et actuelles.Résultats : l'âge moyen était de 25 ans et une médiane de 11 ans, avec une légère prédominance masculine (sex-ratio de 1,25). Sur les 44 KKO, 19 étaient des primo KKO, 10 étaient des récidives et 15 étaient des KKO issus d'une seconde localisation. Les KKO ont été découverts pour près de la moitié (45,5 %) grâce à des examens de contrôle et à la mise en place d'une surveillance. On retrouve une majorité (56,8 %) de KKO situés à la mandibule. Le traitement chirurgical a été réalisé par énucléation kystique, le taux de récidive était de 22,7 %. La période de suivi était en moyenne de 79,4 mois.Discussion-Conclusion : le risque de récidive est d'autant plus grand que la localisation est en mandibulaire postérieur, probablement en rapport avec la difficulté d'accès. Aucun traitement chirurgical ne fait consensus à ce jour, bien que l’énucléation kystique reste prédominante. On peut considérer que le taux de récidive de 22,7 % dans notre étude est tout à fait acceptable en comparaison de ceux retrouvés dans la littérature. Nous avons choisi de bien distinguer les récidives et les secondes localisations. À notre connaissance, cette précision n’est détaillée dans aucune autre étude.

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 (GGS), is an autosomal dominant inherited disorder related to germline mutation of PTCH1 gene, characterised by the presence of multiple developmental anomalies and tumours, mainly basal cell carcinomas (BCC) and odontogenic keratocysts (OKC). We analysed and compared the expression of calretinin in 16 sporadic OKCs, from 15 patients, and 12 syndromic OKCs from 11 patients; in 19 BCC's and 2 cutaneous keratocysts (CKC) belonging to 4 GGS patients, 15 sporadic BCCs and 3 steatocystomas (SC). Calretinin was negative in 10 of 12 syndromic OKCs, focally positive (5% of cells) in 2; six sporadic OKCs were negative, 6 focally and 4 diffusely positive (p = .02, cases focally and diffusely positive vs. cases negative). All BCCs of 3 GGS patients were negative, the fourth patient presented two BCCs negative and 5 focally or diffusely positive; 7 sporadic BCCs were negative and 8 focally positive (p = NS). Two CKCs resulted negative in one GGS patient; 2 sporadic SCs were positive, and a third was negative. PTCH1 mutations produce an altered PTCH protein and an aberrant activation of Sonic hedgehog (SHH) pathway, leading to tumoral proliferation. It has been demonstrated that treatment of human foetal radial glia cells with SHH reduces, whereas the blockage of SHH increases calretinin expression. We found a lower expression of calretinin in syndromic OKCs compared to sporadic cases. Although calretinin's value in differential diagnosis between sporadic and syndromic tumours appears not crucial, our results shed light on the possible link between SHH dysfunction and calretinin expression in GGS-related tumours.

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, being due to a genetic alteration which produced by mutation in the “Patched” tumor suppressor gene, and it is inherited in an autosomal dominant way. This syndrome is about multisystemic process that is characterized by the presence of multiple pigmented basocellular carcinomas, odontogenic keratocysts in the jaws, palmar and/or plantar pits and calcification of falx cerebri. Together with these major features a great number of processes considered as minor features have also been described which include numerous skeletal, dermatological and neurological anomalies among others. Due to the importance of oral and maxillofacial manifestations of this syndrome, it is fundamental to know its characteristic in order to make a diagnosis, an early preventive treatment and establish right genetic advice.