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

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

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

The recurrence of odontogenic keratocysts in pediatric patients is associated with clinical findings of Gorlin-Goltz Syndrome

BACKGROUND: Odontogenic keratocyst (OKC) is an odontogenic developmental cyst that presents distinct clinical behavior. This lesion has been described as dental cysts with keratinization since the 1930s, however the term "OKC" was established in 1956. This study aims to determine the frequency and features of OKC in children aged 0 to 14 years in an oral pathology service in Brazil. MATERIAL AND METHODS: A retrospective study was performed to review cases of OKC in children diagnosed be-tween 1986 and 2017. Clinical data were evaluated from medical records (gender, race, age, anatomical location, treatment, radiographic findings and follow-up). RESULTS: Ninety-seven cases of OKC were diagnosed in a 31-year-period in all age groups and 10 were found in children (10.3%). Age ranged from 2 to 14 years (mean age = 10.5 ± 3.5), with 8 males and 2 females. The most fre-quent location was the anterior region of the mandible (n = 4). Patients were predominantly asymptomatic. More-over, in two children, clinical findings of Gorlin-Goltz Syndrome were observed. The most commonly used treat-ment was enucleation followed by curettage. In all cases of Gorlin-Goltz Syndrome were observed recurrences and occurrence of new keratocysts. CONCLUSION: Although uncommon in pediatric patients, OKC should be considered a differential diagnosis in cases of osteolytic lesions in gnathic bones. Thus, the periodic assessment of children by dentists and pediatricians is essential to get a correct diagnosis and early treatment to avoid greater mutilation of these patients

No disponible

Síndrome de Gorlin / Gorlin Syndrome

El síndrome de Gorlin es una enfermedad infrecuente de herencia autosómica dominante producida por mutaciones en genes de la vía de señalización Sonic Hedgehog, entre los que destaca PTCH1. Se caracteriza por el desarrollo de múltiples carcinomas basocelulares en edades tempranas, que pueden ir asociados a otras manifestaciones cutáneas como pits palmoplantares, o a manifestaciones extracutáneas, entre las que destacan los queratoquistes odontogénicos y el meduloblastoma. El papel del dermatólogo es importante en la sospecha de este síndrome, pero suele ser necesario un equipo multidisciplinar en el diagnóstico, seguimiento y en el tratamiento de estos pacientes. El tratamiento dermatológico puede ser complicado debido al alto número de carcinomas basocelulares y a su extensión. En los últimos años se han desarrollado nuevos fármacos que inhiben la vía Sonic Hedgehog y parecen prometedores para estos pacientes, aunque su eficacia está limitada por los efectos secundarios y la creación de resistencias

Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages. These tumors may present with other skin manifestations such as palmoplantar pits and with extracutaneous manifestations such as odontogenic keratocysts and medulloblastoma. Although the dermatologist may be key for recognizing clinical suspicion of the syndrome, a multidisciplinary team is usually necessary for diagnosis, treatment, and follow-up. Skin treatment may be complicated due to the large number of basal cell carcinomas and the extent of involvement. In recent years, new drugs that inhibit targets in the sonic hedgehog pathway have been developed. Although these agents appear promising options for patients with Gorlin syndrome, their efficacy is limited by adverse effects and the development of resistance

Utilidad de la microscopia confocal en el diagnóstico diferencial de epiteliomas basocelulares y nevus melanocíticos intradérmicos de localización facial / Usefulness of Confocal Microscopy in Distinguishing Between Basal Cell Carcinoma and Intradermal Melanocytic Nevus on the Face

El diagnóstico clínico diferencial entre el epitelioma basocelular y el nevus melanocítico intradérmico facial puede ser a veces complicado, sobre todo en pacientes jóvenes o con múltiples nevus. La dermatoscopia es una herramienta útil que permite observar signos dermatoscópicos asociados a epitelioma como las ruedas de carro, las hojas de arce, los nidos y puntos azul grisáceos y la ulceración, además permite distinguir los vasos telangiéctasicos arboriformes y los vasos cortos curvados bien enfocados característicos de los epiteliomas basocelulares de los vasos en coma presentes en los nevus melanocíticos intradérmicos. Sin embargo, el diagnóstico diferencial clínico y dermatoscópico entre estas 2 afecciones dermatológicas puede ser complejo. Presentamos 2 lesiones faciales en 2 pacientes de 38 años de difícil diagnóstico clínico y dermatoscópico en los que la microscopia confocal mostró nidos celulares con separación entre los nidos y el estroma, y polarización de los núcleos de las células tumorales, que son signos confocales asociados a epitelioma basocelular

The clinical distinction between basal cell carcinoma (BCC) and intradermal melanocytic nevus lesions on the face can be difficult, particularly in young patients or patients with multiple nevi. Dermoscopy is a useful tool for analyzing characteristic dermoscopic features of BCC, such as cartwheel structures, maple leaf–like areas, blue-gray nests and dots, and ulceration. It also reveals arborizing telangiectatic vessels and prominent curved vessels, which are typical of BCC, and comma vessels, which are typical of intradermal melanocytic nevi. It is, however, not always easy to distinguish between these 2 conditions, even when dermoscopy is used. We describe 2 facial lesions that posed a clinical and dermoscopic challenge in two 38-year-old patients; confocal microscopy showed separation between tumor nests and stroma and polarized nuclei, which are confocal microscopy features of basal cell carcinoma

Differential expression of Cyclin D1 in keratin-producing odontogenic cysts

OBJECTIVES: The aim of the present study was to analyze the expression levels of Cyclin D1 (CCD1), a nuclear protein that plays a crucial role in cell cycle progression, in a series of keratin-producing odontogenic cysts. Study DESIGN: A total of 58 keratin-producing odontogenic cysts, diagnosed over ten years and classified according to the WHO 2005 criteria, were immunohistochemically analyzed in terms of CCD1 expression, which was quantified in the basal, suprabasal and intermediate/superficial epithelial compartments. The extent of immunostaining was measured as a proportion of total epithelial thickness. Quantified immunohistochemical data were correlated with clinic pathological features and clinical recurrence. RESULTS: Keratin-producing odontogenic cysts were classified as 6 syndromic keratocystic odontogenic tumors(S-KCOT), 40 sporadic or non-syndromic KCOT (NS-KCOT) and 12 orthokeratinized odontogeniccysts (OOC). Immunohistochemically, CCD1 staining was evident predominantly in the parabasal region of all cystic lesions, but among-lesion differences were apparent, showing a clear expansion of parabasal compartment especially in the S-KCOT, followed to a lesser extent in the NS-KCOT, and being much more reduced in the OOC, which had the greatest average epithelial thickness. CONCLUSIONS: The differential expression of CCD1 noted in the present study suggests that dysregulation ofcell cycle progression from G1 to the S phase contributes to the different aggressiveness of these lesions. However, CCD1 expression levels did not predict NS-KCOT recurrence, which is likely influenced by factors unrelated to lesion biology

Mutación en el gen supresor tumoral PTCH1 en el síndrome de Gorlin. Presentación de un caso / Mutation in the PTCH1 tumor suppressor gene in Gorlin Syndrome. A case report

El síndrome de Gorlin, también conocido como síndrome del carcinoma basocelular nevoide (SCBN), es una enfermedad hereditaria, autosómica dominante, con penetrancia alta y expresividad clínica variable. El SCBN se caracteriza por la presencia de múltiples carcinomas basocelulares, fibromas de ovario y una variedad de características clínicas, clasificadas según criterios mayores y menores que permiten orientar el diagnóstico. El SCBN corresponde a una enfermedad genética con baja incidencia y poca prevalencia en México. Está asociado a mutaciones en el gen supresor de tumores PTCH1. Presentamos el caso de una niña de 13 años, producto del primer embarazo de padres sanos y sin antecedentes heredofamiliares de importancia. Los signos clínicos en esta paciente incluían los siguientes: macrocefalia, frontal amplio, puente nasal ancho, telecanto y paladar alto y ojival. En la piel se observaron 8 nevos y hoyuelos palmares o plantares. Mediante un estudio radiológico se observó la presencia de quistes odontogénicos, que eran recurrentes. El estudio molecular demostró una mutación heterocigota en el gen supresor de tumores PTCH1. Los hallazgos mostraron una mutación novel, no descrita en la bibliografía o en bases de datos públicas; sin embargo, la mutación expresa las manifestaciones fenotípicas características del SCBN. Actualmente, no existe un tratamiento definitivo para esta afección, por lo que es necesario un abordaje preventivo multidisciplinario y el asesoramiento genético (AU)

Gorlin syndrome is a hereditary disease, and it is also known as nevoid basal cell carcinoma (NBCC). NBCC follows an autosomal dominant inheritance pattern, with high penetrance and variable clinical expression. NBCC is characterized by multiple basal cell carcinomas, ovarian fibroma and a variety of clinical manifestation known as minor or mayor criteria. NBCC is a genetic disease with low incidence in México and it is associated with mutated PTCH1 suppressor gen. We present the case of a 13 years old feminine patient was a healthy product of the first gestation of parents with no history of disease. Her clinical characteristics include macrocephaly, broad forehead, broad nasal bridge, telecanthus, high-arched palate, with 8 palmar and plantar pits. The radiology dental studies showed chists odontogenic with a recurrent pattern. Molecular studies showed a heterocigotic mutation in the suppressor gene PTCH1. Molecular analysis showed a novel mutation and clinical manifestation of the NBCC, not described before. For the NBCC there is no definitive treatment, and a multidisciplinary medical team is necessary for prevention and genetic counseling (AU)

Síndrome de Gorlin en la edad pediátrica / Gorlin syndrome in the paediatric age

Introducción. El síndrome de Gorlin (SG) es un trastorno de herencia autosómica dominante asociado a mutaciones en el gen PTCH1, cuya principal característica es la aparición de carcinomas basocelulares, unido a anomalías esqueléticas, queratoquistes odontogénicos y tumores intracraneales. Caso clínico. Niña de 3 años y 10 meses, ingresada por ataxia aguda. Destacan como antecedentes personales retraso psicomotor y como antecedentes familiares la sospecha de SG en la madre por quiste maxilar. En la exploración, se aprecia macrocefalia con frente prominente e hipertelorismo, así como nevo. Se solicita estudio genético de SG, en el que se detecta la mutación c.930delC en el exón 6 del gen PTCH1 en heterocigosis. Conclusiones. En el SG hay un aumento de la susceptibilidad al desarrollo de carcinomas basocelulares y es preciso un estrecho control dermatológico. Es necesario un seguimiento neurológico clínico y de imagen, mediante resonancia magnética, para el diagnóstico precoz de tumores intracraneales, fundamentalmente el meduloblastoma. También son característicos los queratoquistes odontogénicos, otras alteraciones cutáneas, fibromas cardíacos y ováricos, así como anomalías esqueléticas, que precisan controles clínicos y de imagen periódicos, y tratamiento en caso de ser necesarios, pero debe evitarse la radiación. El SG es un trastorno poco frecuente, que se debe sospechar ante la presencia de alteraciones características. Es necesario un seguimiento multidisciplinar, así como establecer un protocolo de actuación, para un temprano diagnóstico y tratamiento de las complicaciones potencialmente graves derivadas de esta enfermedad (AU)

INTRODUCTION. Gorlin syndrome (GS) is a disorder transmitted by dominant autosomal inheritance associated to mutations in PTCH1, the main characteristic of which is the appearance of basal cell carcinomas, together with skeletal abnormalities, odontogenic keratocysts and intracranial tumours. CASE REPORT. A girl aged 3 years and 10 months, who was admitted due to acute ataxia. Some of the more striking features in the patient's personal history include psychomotor retardation and a family history of suspected GS in the mother as a result of a maxillary cyst. An examination revealed macrocephaly with a prominent forehead and hypertelorism, as well as nevus. A genetic study for GS was requested, in which mutation c.930delC was detected in exon 6 of the PTCH1 gene in heterozygosis. CONCLUSIONS. In GS there is an increase in the likelihood of developing basal cell carcinomas and strict dermatological monitoring is necessary. A clinical neurological follow-up and also magnetic resonance imaging scans are needed for an early diagnosis of intracranial tumours, especially in the case of medulloblastomas. Odontogenic keratocysts, other skin disorders, and cardiac and ovarian fibromas are characteristic, as are skeletal abnormalities, which require regular clinical and neuroimaging controls and treatment if needed, but radiation must be avoided. GS is a rare disorder, but it must be suspected in the presence of characteristic alterations. It requires a multidisciplinary follow-up, and it is also necessary to establish a protocol on how to act so as to allow early diagnosis and treatment of the potentially severe complications deriving from this disease (AU)

Síndrome del nevo basocelular: experiencia en un hospital pediátrico / Nevoid Basal Cell Carcinoma Syndrome: Our Experience in a Pediatric Hospital

El síndrome del nevo basocelular o síndrome de Gorlin es un trastorno hereditario infrecuente, de carácter autosómico dominante, asociado a la mutación del gen PATCHED1. Se caracteriza por la presencia de múltiples carcinomas basocelulares y alteraciones óseas, cutáneas, oftalmológicas y neurológicas asociadas. Presentamos 6 pacientes evaluados en nuestro Servicio con diagnóstico de síndrome del nevo basocelular. Entre las manifestaciones observadas se destacan la presencia de hoyuelos palmoplantares en todos los pacientes (100%), carcinomas basocelulares múltiples en 5 pacientes (83%), malformaciones congénitas en 5 sujetos (83%), alteraciones esqueléticas en tres de ellos (50%) y queratoquistes odontógenos en un paciente (17%). Es de nuestro interés hacer hincapié en la importancia del diagnóstico y tratamiento temprano de esta enfermedad, debiendo realizar un seguimiento multidisciplinario a lo largo de toda la vida de estos pacientes (AU)

Nevoid basal cell carcinoma (BCC) syndrome, or Gorlin syndrome, is a rare autosomal dominant disorder associated with mutations in the patched 1 gene, PTCH1. It is characterized by the presence of multiple BCCs in association with disorders affecting the bones, the skin, the eyes, and the nervous system. We describe 6 cases of nevoid BCC syndrome evaluated in our department. Palmoplantar pitting was observed in all 6 patients, multiple BCCs in 5 patients (83%), skeletal anomalies in3 patients (50%), and odontogenic keratocysts in 1 patient (17%). We would like to stress the importance of early diagnosis and treatment in nevoid BCC syndrome and the need for continuous, long-term follow-up by a multidisciplinary team (AU)

Síndrome de Gorlin-Goltz: manejo del carcinoma basocelular facial / Gorlin-Goltz syndrome: management of facial basal cell carcinoma

Introducción/objetivo. El síndrome de Gorlin-Goltz (SGG) es un trastorno hereditario autosómico dominante que predispone principalmente a la proliferación de tumores como los carcinomas basocelulares y queratoquistes maxilares. Está causado por la mutación del gen Patched localizado en el cromosoma 9. Los carcinomas basocelulares que aparecen en pacientes con el SGG suelen ser múltiples, de aspecto clínico polimórfico y sin predilección por el sexo, detectándose a veces a edades precoces de la vida y afectando incluso a zonas no expuestas a la luz solar. Muestran un comportamiento clínico variable, si bien en ocasiones pueden ser muy agresivos, sobre todo a nivel facial. Con el fin de estudiar el comportamiento de los carcinomas basocelulares en los pacientes con SGG se ha realizado un estudio de los pacientes tratados en nuestro hospital durante el periodo comprendido entre 2001 y 2011 y que cumplían criterios de la enfermedad. Material y métodos. Se incluyeron 11 pacientes con diagnóstico clínico y/o genético de SGG. Se estudió la distribución según edad y sexo, manifestaciones clínicas, características histológicas, técnica quirúrgica empleada, presencia de recidiva y evolución de los pacientes. Resultados. Un 36% de los pacientes presentaron carcinomas basocelulares en la cara. El número de tumores por paciente osciló entre 9 y 21. El tratamiento preferido fue la exéresis quirúrgica, si bien todos los pacientes desarrollaron nuevas lesiones y recidivas que requirieron varios procedimientos. El estudio histológico reveló un contacto o proximidad del tumor con los márgenes quirúrgicos en el 28% de las lesiones. Conclusiones. En la literatura no hay evidencia suficiente para determinar el tratamiento de elección entre los distintos métodos disponibles para el manejo del carcinoma basocelular en el SGG. Es necesario un enfoque preventivo evitando la exposición al sol(AU)

Introduction/objective. Gorlin Goltz syndrome (GGS) is an autosomal dominant inherited disorder that mainly predisposes to the proliferation of tumors, such as basal cell carcinomas and jaw keratocysts. GGS is caused by the Patched gene mutation on chromosome 9. Basal cell carcinomas in patients with GGS usually present as multiple tumors, with polymorphic clinical features, a non-gender predilection, sometimes occurring in the early stages of life, and even affecting areas not exposed to sunlight. The clinical behavior may vary, and sometimes can be very aggressive, especially in the face. In order to study the behavior of basal cell carcinomas in GGS patients, a study was performed on the patients who met criteria for the disease and were treated in our hospital in the period between 2001 and 2011. Material and methods. The study included 11 patients with clinical and/or genetic diagnosis of GGS. The patients were studied according sex and age, clinical aspects, histological features, surgical treatment provided, presence of recurrence, and follow-up. Results. Basal cell carcinomas were seen on the face in 36% of the patients. The number of tumors per patient ranged between 9 and 21. The preferred treatment was surgical excision, although all patients developed new lesions and recurrences which required several procedures. The histological study revealed a contact or proximity of the tumor to surgical margins in 28% of lesions. Conclusions. There is insufficient evidence in the literature to determine the treatment of choice among the different methods available for the management of the basal cell carcinoma in GGS. A preventive approach is necessary to avoid sunlight exposure(AU)

Nevus melanocíticos en el pie: indicación quirúrgica / Melanocytic nevus in the foot: surgical indication

La presencia de nevus melanocíticos en pie resulta muy frecuente en la población caucásica, así como en la región subungueal en personas de raza negra. Por ello resulta importante para los profesionales involucrados saber diferenciar la benignidad o malignidad de la lesión, así como establecer las indicaciones quirúrgicas (AU)

The presence of melanocytic nevi in the foot is very common in the caucasian population and in subungual region in blacks. It is therefore important for the professionals involved to differentiate between benign or malignant lesion, and to therefore take proper surgical action (AU)

Síndrome de Gorlin-Goltz: serie de 7 casos / Gorlin-Goltz Syndrome. A 7 cases serie

El Síndrome Névico Basocelular (SNBC) o Síndrome de Gorlin-Goltz es un trastorno autosómico dominante, caracterizado principalmentepor carcinomas basocelulares, múltiples queratoquistes y anomalías esqueléticas.El presente trabajo revisa a este desconocido síndrome dada la importanciaque tiene para nosotros como especialistas. Presentamos un total desiete casos recogidos por el Servicio Cirugía Oral y Maxilofacial desde 1992al 2008, con seguimiento medio de 10 años, determinamos la frecuencia delas características clínicas en nuestra serie de SNBC y el manejo terapéuticode las mismas(AU)

Nevoid Basal Cell Carcinoma Syndrome (NBCSS) or Gorlin-Goltz Syndrome is an autosomal dominant disorder principallycharacterized by cutaneous basal cell carcinomas, multiplekeratocysts and skeletal anomalies. This report reviews currentknowledge of this disorder that is important to us as specialists. Theauthors reviewed seven case files from the Department of Oral andMaxillofacial Surgery of H. U. La Princesa from 1992-2008. Theaverage follow up was 10 years; we determine the frequency of theclinical features and treatment in our series of NBCCS(AU)

Síndrome de Gorlin-Goltz: serie de 7 casos / Gorlin-Goltz Syndrome. A 7 cases serie

No disponible

No disponible

Cell proliferation and apoptosis in keratocystic odontogenic tumors

Objectives: Keratocystic odontogenic tumors (KOTs), also known as odontogenic keratocysts, were recently classifiedas a benign neoplasia due to the aggressive clinical behavior. Although several studies have shown the high proliferativeactivity of the epithelial lining, few studies have evaluated apoptosis in KOTs. Therefore, the aim of this study isto evaluate and compare the proliferation index (PI) and the apoptotic index (AI) of the epithelial lining in sporadicKOTs, KOTs associated with the Nevoid Basal Cell Carcinoma Syndrome (NBCCS KOTs), and dentigerous cysts.Material and methods: A total of 11 sporadic KOTs, 15 NBCCS KOTs, and 11 dentigerous cysts were evaluated. ThePI was assessed by immunohistochemical detection of the cell proliferation marker Ki-67. The AI was assessed bymorphological evaluation of sections stained by methyl green-pyronin. The TUNEL assay was used to confirm theoccurrence of apoptosis. Differences in the PI and the AI between sporadic KOTs, NBCCS KOTs, and dentigerouscysts were analyzed using the Kruskal-Wallis test. Differences in the PI and the AI between the epithelial layers ofeach lesion were analyzed using the Wilcoxon test.Results: The PI and AI were higher in sporadic and NBCCS KOTs than in dentigerous cysts. No difference in theseindexes was observed between sporadic and NBCCS KOTs. In dentigerous cysts, the PI was higher in the basal layer.In sporadic and NBCCS KOTs, the PI was higher in suprabasal layer. No difference in the AI was observed betweenthe basal layer and the suprabasal layer in the three lesions. The AI was higher in the superficial layer of sporadicand NBCCS KOTs.Conclusions: The present study demonstrates that the epithelial lining of KOTs shows a distinct pattern of cell proliferationand apoptosis, reflecting its high cell turnover and reinforcing its classification as an odontogenic tumor (AU)

Gorlin-Goltz syndrome: Clinicopathologic aspects

Gorlin-Goltz syndrome, also known as nevoid basal cell carcicoma syndrome, comes into being due to a genetic alteration produced by a mutation in the “Patched” tumour suppressor gene, and it is inherited in a dominant autosomal way, though sporadic cases have been found. This syndrome shows a high penetrance and variable expressiveness. It is about a multisystemic process that is characterised by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falxcerebri. Together with these major features a great number of processes considered as minor features have also been described. The latter include numerous skeletical, dermatology related and neurological anomalies among others. In some occasions, the presence of very aggressive basocellular carcinomas has been described as well as other malignant neoplasias. Due to the importance of oral 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. In this work the main clinicopathologicand the therapeutic aspects related to the syndrome under consideration have been revised and updated

Síndrome de Gorlin (Síndrome neovoide basocelular) / Gorlin syndrome. (Nevoid basal cell carcinoma syndrome)

Caso clínico: Varón de 77 años con enfermedad de Parkinson y demencia senil. Presentaba múltiples carcinomas basocelulares faciales y ectropión en ojo izquierdo. Comenzó con insuficiencia respiratoria y fue diagnosticado de ameloblastoma en fosa nasal izquierda e intervenido quirúrgicamente. Discusión: El síndrome de Gorlin es una enfermedad autosómica dominante caracterizada por carcinomas basocelulares, anomalías esqueléticas y del sistema nervioso. Su pronóstico depende de la evolución de las lesiones malignas. Es importante sospechar un síndrome de Gorlin en pacientes jóvenes con múltiples carcinomas basocelulares o en pacientes que acuden al oftalmólogo con estas lesiones a nivel palpebral, ya que su seguimiento es fundamental

Clinical case: A 77 year-old male patient with Parkinson’s disease and senile dementia had many facial basal cell carcinomas and an ectropion of the left eye. When he experienced respiratory difficulty he was diagnosed to have an ameloblastoma in left nostril requiring surgery. Discussion: Gorlin syndrome is an autosomal dominant condition characterized by basal cell carcinomas, and skeletal and neurological anomalies. The presence of multiple basal cell carcinomas on the eyelids in a child or in a young patient should alert ophthalmologists to the possibility of this syndrome (Arch Soc Esp Oftalmol 2008; 83: 321-324)

Lesión policroma indurada en antebrazo / Polychromic and indurated lesion in the forearm

No disponible

No disponible

Síndrome de Gorlin neonatal asociado a hemimegalencefalia confirmado por estudio genético / Neonatal Gorlin syndrome associated to hemimegalencephaly confirmed by genetic study

No disponible

No disponible

Quiste de Gorlin asociado a odontoma: reporte de un caso con su tratamiento quirúrgico / Gorlin cyst associated with odontoma: Case report with surgical treatment

El quiste de Gorlin es un quiste odontogénico que puede presentarse en dos variedades, una quística rodeada por epitelio y de carácter benigno, y una neoplásica localmente agresiva. Se presenta elcaso de una mujer de 18 años con aumento de volumen facial indoloro en regióninfraorbitaria izquierda. Se realiza la exéresis total de la lesión. Con el estudio histopatológico se obtiene el diagnóstico definitivo de quiste de Gorlin asociado a odontoma. Luego de controles por 3 años, se observa el restablecimiento de la simetría facial, una adecuada regeneración ósea y de los tejidos adyacentes, sin signos de recidiva

Gorlin cyst is an odontogenic cyst that may appear astwo types, one cystic and surrounded by epithelium of a benign nature, and the other a locally aggressive neoplasm. The case is presented of an 18-year-old female that had experienced an increase in facial volume in the left infraorbital area that was painless. Total exeresis of the lesion was carried out. The histopathologicstudy provided the definitive diagnosis of Gorlin cyst associated with odontoma. After a follow-up of three years, facial symmetry was reestablished, there was adequate regeneration of bone and of the adjacent tissue, and there were no signs of relapse

Síndrome de nevus basocelulares y neoplasia pulmonar / Nevoid basal cell carcinoma syndrome and lung cancer

No disponible