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.

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.

Reclassification and treatment of odontogenic keratocysts: A cohort study.

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

Reclassification and treatment of odontogenic keratocysts: A cohort study

Abstract: 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.

Síndrome de Gorlin-Goltz: una presentación atípica / Gorlin - Goltz syndrome: a non typical presentation

El síndrome de Gorlin-Goltz o síndrome de carcinoma de nevo baso celular es un desorden autosómico dominante caracterizado principalmente por múltiples carcinomas baso celular, queratoquistes y defectos del desarrollo. El queratoquiste odontogénico es una de las lesiones más constantes de este síndrome y con localización en el seno maxilar, se presenta habitualmente de manera asintomático y como hallazgo en exámenes radiológicos, sin embargo, puede presentarse de forma atípica, dando sintomatología secundaria a la compresión de estructuras vecinas, ya sea oculares o en la región facial. Además se debe realizar la evaluación genética y estudio de toda la familia. El tratamiento quirúrgico realizado por equipo con experiencia en este territorio anatómico, debe ser el menos agresivo considerando su alta tasa de recurrencia local.

The Gorlin - Goltz syndrome carcinoma or basal cell nevus syndrome is an autosomal dominant disorder characterized mainly by multiple baso cellular carcinoma, queratocysts and developmental defects. The odontogenic queratocyst is one of the most constant injuries of this syndrome and localization in the maxillary sinus, usually presenting asymptomatic and as a finding in radiological exams, however, may present atypically , giving symptoms related to compression neighboring structures either eye or facial region. In addition it should be performed genetic evaluation and study of the whole family. The surgical treatment performed by experienced team in this anatomical area, should be the least aggressive considering the high rate of local recurrence.

The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus / Síndrome de Gorlin-Goltz: diagnóstico de um caso associado à cardiopatia e diabetes mellitus 2

The Gorlin-Goltz syndrome (GGS) is a hereditary, autosomal dominant condition, with high penetrance and variable expressivity, resulting from mutations in the genes PTCH1, PTCH2, or SUFU. The diagnosis is based on the presence of 2 major criteria or a major criterion associated with 2 minor criteria, including multiple basal cell carcinomas, keratocystic odontogenic tumor (KOT), and bifid rib. Other endocrine, neurological, ophthalmologic, genital, respiratory, and cardiovascular alterations are found in the literature, but with variable manifestations. This study reports the case of a patient diagnosed with GGS associated with diastolic congestive heart failure and type 2 diabetes mellitus, who underwent multiple treatments for components of the syndrome. More recently, the patient underwent decompression followed by cystic enucleation of two KOTs in the jaw, oral rehabilitation with removable prosthodontics, cardiological evaluation, and attempted clinical control of endocrine and cardiac problems.

A síndrome de Gorlin-Goltz (SGG) é uma condição hereditária, autossômica dominante, com alta penetrância e expressividade variável, decorrente de mutações nos genes PTCH1, PTCH2 ou SUFU. O diagnóstico é baseado na presença de dois critérios maiores ou um critério maior associado a dois critérios menores, dentre eles múltiplos carcinomas basocelulares, tumor odontogênico ceratocístico (TOC) e costela bífida. Outras alterações endócrinas, neurológicas, oftalmológicas, genitais, respiratórias e cardiovasculares são encontradas na literatura, porém com manifestações variáveis. O objetivo deste trabalho é relatar um caso clínico de uma paciente sistematicamente diagnosticada com SGG associada à insuficiência cardíaca congestiva diastólica e diabetes mellitus 2 submetida a tratamentos seriados das respectivas manifestações sindrômicas. Mais recentemente, à descompressão cística seguida da enucleação de dois TOC em mandíbula, reabilitação oral com prótese total removível, avaliação cardiológica e tentativa de controle clínico das alterações endócrinas e cardíacas.

O papel do cirurgião plástico na Síndrome de Gorlin / The role of the plastic surgeon in the treatment of Gorlin syndrome

Introdução: A síndrome de Gorlin ou síndrome do nevo carcinoma basocelular é uma doença multissistêmica infrequente, com um potencial de desenvolvimento de anormalidades de amplo espectro, como também de desenvolvimento de outras neoplasias. A mesma é autossômica dominante, com alta penetrância e grande variabilidade de expressão, manifesta-se em todos os grupos étnicos, sendo mais prevalente em caucasianos, e com relação entre os sexos de 1:1. Objetivo: Discorrer sobre esta afecção pouco comentada em nosso meio e que pode estar sendo subdiagnosticada e subtratada tanto pelo cirurgião plástico como pelos demais profissionais supostamente envolvidos. Método: Realizada revisão da literatura selecionando artigos sobre síndrome de Gorlin, no banco de dados da Medline/Pubmed de 2009-2013, e descrição da casuística do serviço do Hospital das Clínicas de Ribeirão Preto - USP. Conclusão: A síndrome de Gorlin é uma síndrome multissistêmica, com um amplo espectro de manifestações e grande potencial de mutilação relacionada principalmente ao tratamento de suas três principais alterações/ características. O cirurgião plástico desempenha papel importante na sua detecção e pode colaborar no tratamento abrangente com seguimento adequado aos seus portadores.

Introduction: Gorlin syndrome or nevoid basal cell carcinoma syndrome is a rare multisystemic disease with a potential to cause a broad spectrum of abnormalities and other cancers. It is an autosomal dominant disease with a high penetrance and large variability of expression, manifesting in all ethnic groups but more prevalent in Caucasians, and presenting at a sex ratio of 1:1. Objective: The aim of this study was to discuss Gorlin syndrome, which is little commented on in the literature , and is possibly being underdiagnosed and undertreated by plastic surgeons and other professionals. Method: A literature review was done by selecting articles about Gorlin syndrome from the Medline/PubMed database from 2009 to 2013, and a case-by-case description from the records of the

Síndrome de Gorlin Goltz / Gorlin Goltz syndrome

Se presenta el caso de un paciente portador del Síndrome de Gorlin Goltz, trastorno hereditario caracterizado por el desarrollo de múltiples Carcinomas Basocelulares a partir de la infancia, que generalmente se asocia a otras anomalías congénitas, se trata de un paciente de 23 años, raza negra, que comenzó a presentar estas lesiones a partir de los 12 años, el cual se asocia con retraso mental ligero. Se le ha realizado tratamiento convencional para los Carcinomas con respuesta favorable(AU)

Cisto de Gorlin: revisão de literatura / Gorlin's cyst: review of literature

O Cisto Odontogênico Epitelial Calcificante(COEC) é uma lesão incomum que apresenta comportamentoclínico variável e características histopatológicas peculiares,além de uma grande diversidade de terminologias, devido àssuas variáveis clínica, radiográfica e microscópica. Podeaparecer associado com outros tumores odontogênicos,mudando suas características. Somente em 1971 o COEC,também conhecido com Cisto de Gorlin, foi reconhecido pelaOMS como entidade patológica distinta, e classificado comolesão cística não neoplásica pelo Centro de ReferênciaInternacional para a Definição e Classificação Histológica dosTumores Odontogênicos, Cistos dos Maxilares e Lesões Afinsda OMS. Atualmente a Organização Mundial de Saúde define oCisto de Gorlin como tumor odontogênico, incluindo todas assuas variantes. Objetivo: Faremos neste trabalho uma revisãode literatura sobre o COEC e relataremos um caso clínico destaentidade, enfatizando aspectos clínicos, radiográficos ehistopatológicos relevantes para o diagnóstico e tratamentodesta patologia. Conclusão:O Cisto de Gorlin é uma entidadepatológica distinta, incomum e com características clínicas,radiográficas e histopatológicas variáveis; acomete tantomandíbula como maxila, preferencialmente na região anterior enão existe predileção por sexo ou raça, surgindo na maioria doscasos na 4a década de vida; apesar da ocorrência maisevidente em adultos, o COEC pode acometer crianças e oCirurgião-Dentista deve estar atento para realizar o diagnóstico desta patologia

Introduction: The COEC is a rare injury that presents a variable clinic behavior and peculiar histopathological characteristics and a great diversity of terminologies, due to its clinical, radiographic and microscopic variables. It can be associated with other odontogenic tumors. It was only in 1971 that the Calcifying Epithelium Odontogenic Cyst (COEC), also known as Gorlin' Cyst was recognized by OMS as a distinct pathologic entity, and classified as a non neoplasic cystic injury by the International Reference Center for the Histological Definition and Classification of the Odontogenic Tumors, jaw cysts and similar injuries of OMS. Presently the World Health Organization defines the Gorlin' Cyst as odontogenic tumor, including all the of their variations. Objective: In this paper we will do a literature review about the COEC and report a clinical case of this entity, emphasizing clinical, radiographic and histopathological aspects relevant to the diagnosis and treatment of this pathology. Conclusion:The Gorlin cyst is a distinct, unusual pathologic entity with radiographic features and variable histopathologies; it affects both the jaw and the maxilla, mainly in the front region and there is no preference for sex or race, emerging in most of the cases in the fourth decade of life; despite being more evident in adults, it may affect children as well and the Dentist must be alert to recognize the diagnosis of this pathology.

Nevo sebaceo de Jadasshon: un estudio casuístico retrospectivo de 3 años / Nevus sebaceous of Jadasshon: retrospective case review of three years

Se prersentan dieciocho casos de nevo sebácer de Jadasshon a lo largo de 3 años, desde el punto de vista clínico e histolígico. Se hallaron dos pacientes con patología tumoral maligna: carcinoma basocelular; se reaalizó extirpación quirúrgica

Nevo sebaceo de Jadasshon: un estudio casuístico retrospectivo de 3 años / Nevus sebaceous of Jadasshon: retrospective case review of three years

Se prersentan dieciocho casos de nevo sebácer de Jadasshon a lo largo de 3 años, desde el punto de vista clínico e histolígico. Se hallaron dos pacientes con patología tumoral maligna: carcinoma basocelular; se reaalizó extirpación quirúrgica(AU)

Síndrome de nevo basocelular / Basal cell nevus syndrome

Se presenta un caso clínico de cáncer basocelular múltiple en un paciente de 36 años sin antecedentes familiares de enfermedades cutáneas o neoplásicas. La lesión está ubicada en la región facial, cuero cabelludo y tórax. Fue tratado quirúrgicamente con resección en paños de la piel y reparando con injertos dermoepidérmicos

Síndrome del nevo basocelular / Nevoid basal-cell syndrome

Los autores presentamos un enfoque clínico descriptivo del síndrome del nevo basocelular, incluyendo nuestra experiencia en dos casos clínicos de diferente sexo, detallando estudios radiográficos y técnicas quirúrgicas realizadas

Síndrome del nevo basocelular / Nevoid basal-cell syndrome

Los autores presentamos un enfoque clínico descriptivo del síndrome del nevo basocelular, incluyendo nuestra experiencia en dos casos clínicos de diferente sexo, detallando estudios radiográficos y técnicas quirúrgicas realizadas (AU)

Síndrome de carcinoma de células basales nevoide: comentarios a propósito de un caso / Nevoid basal cell carcinoma syndrome: commentary of one case

Se presenta el caso de paciente femenino de 55 años con numerosos carcinomas basocelulares en cabeza, cuello y tronco. Muestra además hipertelorismo, exotropia, quistes mandibulares, hoyuelos palmo plantares y calcifícaciones craneales. La histopatología de las lesiones tumorales mostró un patrón de carcinoma basocelular adenoide. El tratamiento realizado consistió en extirpación quirúrgica de varias lesiones y otras con criocirugía, presentando resultados satisfactorios

Nevoid basal-cell syndrome: literature review and case report in a family

The Nevoid Basal-Cell Carcinoma Syndrome (NBCC), or as it is also referred to, basal-cell nevus syndrome or Gorlin-Goltz syndrome, is characterized by multiple early-appearing basal cell carcinomas, keratocytosis of the mandible, and anomalies of the ocular, skeletal reproductive system. We describe four patients in the same family, all of them possessing a large number of skin tumors associated with other typical clinical and X-Ray anomalies of NBCC. The definitive treatment of NBCC has yet to be established, however, early diagnosis is very important as well as the periodical follow-up examination of ten patients, mainly due to the transformations in the skin lesions that may occur.

Nevoid basal-cell syndrome: literature review and case report in a family.

The Nevoid Basal-Cell Carcinoma Syndrome (NBCC), or as it is also referred to, basal-cell nevus syndrome or Gorlin-Goltz syndrome, is characterized by multiple early-appearing basal cell carcinomas, keratocytosis of the mandible, and anomalies of the ocular, skeletal reproductive system. We describe four patients in the same family, all of them possessing a large number of skin tumors associated with other typical clinical and X-Ray anomalies of NBCC. The definitive treatment of NBCC has yet to be established, however, early diagnosis is very important as well as the periodical follow-up examination of ten patients, mainly due to the transformations in the skin lesions that may occur.