Peutz-Jeghers syndrome in pediatric patients: experience in a tertiary care institution in Mexico / Síndrome de Peutz-Jeghers en pacientes pediátricos: experiencia en una institución de tercer nivel de atención en México

Abstract Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease characterized by the development of polyps in the gastrointestinal tract, mucocutaneous pigmentation, and the risk of developing malignant neoplasms. This study aimed to analyze the epidemiological, clinical, and histopathological data of patients with PJS treated in a tertiary pediatric hospital. Methods: We conducted a retrospective observational study to describe the epidemiological, clinical, endoscopic, and histological characterization of patients with PJS treated in a tertiary pediatric hospital in Mexico. Results: We included 13 cases with a male-female ratio of 1.16:1. Abdominal pain was the main reason for consultation, followed by rectorrhagia. Patients showed mucocutaneous pigmentation and polyps in the gastrointestinal tract, frequently of the hamartomatous type, although inflammatory polyps, follicular hyperplasia, and adenomatous polyps were also found. Among the complications, there was a high prevalence of emergency surgery secondary to abdominal obstructive processes, the main reason for first-time consultation in these patients. Conclusions: The main clinical manifestations were mucocutaneous pigmentation, abdominal pain, and rectorrhagia. PJS should be included in the differential diagnosis in the presence of intestinal obstruction. The diagnosis of PJS should not be excluded if hamartomatous polyps are not evident on the first endoscopy. Nutritional assessment should be included due to the risk of presenting some degree of malnutrition.

Resumen Introducción: El síndrome de Peutz-Jeghers es una enfermedad hereditaria autosómica dominante poco frecuente, caracterizada por el desarrollo de pólipos en el tubo digestivo, pigmentación mucocutánea y riesgo de desarrollar neoplasias malignas. El objetivo de este estudio fue analizar los datos epidemiológicos, clínicos e histopatológicos de los pacientes con SPJ atendidos en un hospital pediátrico de tercer nivel. Métodos: Se llevó a cabo un estudio observacional retrospectivo, para describir las características epidemiológicas, clínicas, endoscópicas e histopatológicas de los pacientes con SPJ atendidos en un hospital pediátrico de tercer nivel de atención en México. Resultados: Se recopilaron 13 casos con una relación masculino-femenino de 1.16:1. El dolor abdominal fue el principal motivo de consulta, seguido por rectorragia. Los pacientes presentaban pigmentación mucocutánea y pólipos en el tubo digestivo, la mayoría del tipo hamartomatoso, aunque también se hallaron pólipos inflamatorios, hiperplasia folicular y adenomatosos. Dentro de las complicaciones se encontró una alta prevalencia de cirugías de emergencia secundarias a procesos obstructivos abdominales, motivo principal de consulta de primera vez en estos pacientes. Conclusiones: Las principales manifestaciones clínicas fueron pigmentación mucocutánea, dolor abdominal y rectorragia. Ante un cuadro de obstrucción intestinal se debe considerar el SPJ en el diagnóstico diferencial. No se debe excluir el diagnóstico de SPJ si no se evidencian pólipos hamartomatosos en la primera endoscopia. Se debe incluir la valoración nutricional por el riesgo de presentar algún grado de desnutrición.

Síndrome de Peutz-Jeghers: reporte de caso / Peutz-Jeghers syndrome: Case report

Resumen El síndrome de Peutz-Jeghers es una enfermedad hereditaria, autosómica dominante, caracterizada por la presencia de múltiples pólipos gastrointestinales de tipo hamartomatoso y se asocia con hiperpigmentación mucocutánea. A continuación, se reporta un caso de un paciente de 25 años con historia de hemicolectomía derecha por una intususcepción ileocolónica secundaria a un pólipo gigante en el íleon terminal. Se trata de un paciente que consultó por rectorragia, con evidencia en el examen físico de lesiones hipercromáticas color café oscuro en la mucosa yugal. Se realizó una colonoscopia total, en la que se observaron múltiples pólipos. Se practicó una mucosectomía endoscópica a algunos de ellos, histopatológicamente compatibles con pólipos hamartomatosos.

Abstract Peutz-Jeghers syndrome is an autosomal dominant hereditary disease characterized by multiple hamartomatous-type gastrointestinal polyps associated with mucocutaneous hyperpigmentation. A case of a 25-year-old male patient with a history of right hemicolectomy due to ileocolonic intussusception secondary to a giant polyp in the terminal ileum is reported. This patient consulted for rectal bleeding, with evidence on physical examination of dark brown hyperchromatic lesions on the buccal mucosa. A total colonoscopy was performed, noting multiple polyps. Endoscopic mucosectomy was conducted on some of them, being histopathologically compatible with hamartomatous polyps.

Reporte de caso: Invaginación intestinal mayor complicación en el Síndrome de Peutz-Jeghers en el paciente pediátrico

El Síndrome de Peutz-Jeghers (SPJ) es una patología autosómica dominante con herencia variable que se caracteriza por lesiones hiperpigmentadas en labios, mucosa oral, plantas y palmas asociado a pólipos hamartomatosos a lo largo de todo el tracto gastrointestinal. Una de la sintomatología más común en el SPJ es la invaginación intestinal. A continuación, presentaremos el caso de una menor con datos de invaginación intestinal y a quien se le diagnóstica SPJ. (provisto por Infomedic International)

Peutz-Jeghers Syndrome (PJS) is an autosomal dominant pathology with variable inheritance that is characterized by hyperpigmented lesions on the lips, oral mucosa, soles, and palms associated with hamartomatous polyps throughout the entire gastrointestinal tract. One of the most common symptoms in PJS is intestinal intussusception. Next, we will present the case of a minor with data of intestinal intussusception and who was diagnosed with PJS. (provided by Infomedic International)

Tumor de ovario de los cordones sexuales con túbulos anulares: reporte de caso y revisión de la literatura / Ovarian sex cord tumor with annular tubules: case report and review of the literature

RESUMEN Objetivos: Reportar un caso de Tumor de Ovario de los Cordones Sexuales con Túbulos Anulares (TCSTA), hacer una revisión de la literatura acerca del diagnóstico, tratamiento y pronóstico de esta condición. Materiales y métodos: Se informa el caso de una mujer que consultó al Instituto Nacional de Cancerología, Bogotá (Colombia), con diagnóstico final de TCSTA avanzado, quien recibió tratamiento quirúrgico y quimioterapia con evolución satisfactoria a los 6 meses. Se realizó una búsqueda de la literatura en las bases de datos Medline vía PubMed, LILACS y Scielo, que incluía reportes y series de caso de mujeres con diagnóstico de TCSTA, publicados desde 1990, sin incluir rango de edad. Se extrajo información sobre el diagnóstico, tratamiento y pronóstico reportado. Se realizó resumen narrativo de los hallazgos. Resultados: Se incluyeron 14 publicaciones que incluían 26 pacientes. La edad media al diagnóstico fue de 22,5 años. Los síntomas principales fueron alteraciones de la menstruación y dolor pélvico. La tomografía computarizada fue la tecnología de imágenes más frecuentemente utilizada. El tratamiento fue quirúrgico, siempre usado, acompañado de quimioterapia (29 %); 2 casos recibieron radioterapia. Hubo recaída en el 20 % de los casos. La mortalidad fue del 12,5 %, toda en el primer año. Conclusiones: La información sobre la utilidad diagnóstica de las imágenes, marcadores tumorales y estudios de histoquímica es escasa, como también los datos sobre el pronóstico de la entidad. El tratamiento quirúrgico es el de elección, teniendo en cuenta el deseo de fertilidad de la paciente y el estadio tumoral. Se requieren más estudios que documenten de manera más detallada el manejo de esta condición.

ABSTRACT Objectives: To report a case of ovarian sex cord tumor with annular tubules (SCTAT) and conduct a literature review on diagnosis, treatment and prognosis of this condition. Material and methods: Case report of a woman with a final diagnosis of advanced SCTAT seen at the National Cancer Institute in Bogota (Colombia) who received surgical treatment and chemotherapy with a satisfactory course after 6 months. A literature search was conducted in the Medline via PubMed, LILACS and Scielo databases, including case reports and series of women diagnosed with SCTAT published since 1990, not using age ranges. Information about diagnosis, treatment and reported prognosis was retrieved. A narrative summary of the findings was prepared. Results: Fourteen publications with 26 patients were included. Mean age at diagnosis was 22.5 years. The main symptoms were menstruation abnormalities and pelvic pain. Computed tomography (CT) was the imaging technology most frequently used. Surgical treatment was used in all cases, together with chemotherapy in 29 %; 2 patients received radiotherapy. Recurrence occurred in 20 % of cases. Mortality was 12.5 %, with all deaths occurring within the first year. Conclusions: There is a paucity of information about the diagnostic utility of imaging, tumor markers and histochemical studies, as well as prognosis of this disease condition. Surgery is the treatment of choice, taking into consideration the patient's wishes regarding fertility, as well as the stage of the tumor. Further studies are needed to provide more detailed information about this condition.

Laser Q-Switched para o tratamento da melanose labial na síndrome de Peutz-Jeghers / Q-Switched Laser for the treatment of mucocutaneous pigmentation on Peutz-Jeghers Syndrome

A síndrome de Peutz-Jeghers (SPJ) é uma doença autossômica dominante, rara, em que há mutação no gene supressor tumoral, havendo maior predisposição para neoplasias, principalmente do trato gastrointestinal. As primeiras manifestações iniciam-se na infância com a presença de melanose mucocutânea e, posteriormente, surgem os pólipos hamartomatosos gastrointestinais. Apresentaremos o caso de uma paciente feminina, jovem, cujas manifestações iniciais da SPJ iniciaram-se na infância sob a forma de melanose cutânea. O tratamento dessas lesões foi realizado com três sessões com os lasers Nd:YAG Q-Switched 1064nm e KTP Q-Switched 532nm, evoluindo com excelente resposta terapêutica e sem recidiva

Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant disease where there is a mutation in the tumor suppressor gene, with a greater predisposition to neoplasms, especially of the gastrointestinal tract. The first manifestations begin during childhood with the presence of mucocutaneous melanosis and, later, gastrointestinal hamartomatous polyps. We describe a case of a young woman whose initial PJS manifestation started during her childhood with cutaneous melanosis. Three sessions with the Q-switched 1064nm Nd:YAG and 532nm KTP lasers were performed to treat the melanosis with excellent results and without recurrence.

Síndrome de Peutz-Jeghers, telangiectasias y prolapso de la válvula mitral. Presentación de caso y asesoramiento genético / Peutz-Jeghers syndrome, telangiectasias, and mitral valve prolapse. Case presentation and genetic counseling

Introducción: El síndrome de Peutz-Jeghers se caracteriza por hiperpigmentación mucocutánea y hamartomas gastrointestinales que pueden aparecer desde el estómago hasta el ano. Tiene un patrón de herencia autosómico dominante y expresividad variable. El diagnóstico se basa en los hallazgos clínicos y la apariencia histológica de los pólipos. No ha sido reportado hasta ahora asociación de esta entidad a telangiectasias y prolapso de la válvula mitral. Objetivo: Describir los hallazgos que permitieron establecer el diagnóstico de Síndrome de Peutz-Jeghers en un paciente y brindar asesoramiento genético. Presentación del caso: Paciente masculino de 36 años de edad con antecedentes de prolapso de la válvula mitral que acude a consulta de genética clínica con su esposa para solicitar asesoramiento genético, debido a que tienen una hija con diagnóstico de Síndrome de Peutz-Jeghers y desean conocer el riesgo de tener otro hijo afectado. Al examen físico se observa mácula hiperpigmentada en labio inferior y varias de estas en encías. Con tales hallazgos y el antecedente de tener la hija Síndrome de Peutz-Jeghers se emite el mismo diagnóstico en el padre. Como dato de interés se constatan en este individuo múltiples telangiectasias en tórax, cuello y espalda. Los estudios realizados en busca de la causa de estas fueron negativos. Conclusiones: Los antecedentes y los hallazgos encontrados en el paciente permitieron realizar el diagnóstico de Peutz-Jeghers y brindar asesoramiento genético. Se presenta el primer reporte de esta enfermedad asociada a telangiectasias y prolapso de la válvula mitral en la literatura científica(AU)

Introduction: Peutz-Jeghers syndrome is characterized by mucocutaneous hyperpigmentation and gastrointestinal hamartomas that can appear from the stomach to the anus. It has an autosomal dominant inheritance pattern and variable expressiveness. The diagnosis is based on clinical findings and histological appearance of the polyps. No association between this entity and telangiectasias and mitral valve prolapse has been reported so far. Objective: To describe the findings that made it possible to establish the diagnosis of Peutz-Jeghers syndrome in a patient and to provide genetic counseling. Case presentation: Thirty-six-year-old male patient with a history of mitral valve prolapse who attends a clinical genetics consultation with his wife to request genetic counseling due to the fact that their daughter was diagnosed with Peutz-Jeghers Syndrome and they want to know about the risk of having another affected child. On physical examination, a hyperpigmented macule on the lower lip and several of these on the gums were observed. With such findings and the antecedent of having a daughter with Peutz-Jeghers syndrome, the same diagnosis is made in the father. As data of interest, multiple telangiectasias on the thorax, neck and back were found in this individual. The studies carried out to identify the same cause were negative. Conclusions: The history and findings in this patient allowed us to make the diagnosis of Peutz-Jeghers syndrome as well as to provide genetic counselling. The first report of this disease associated with telangiectasias and mitral valve prolapse is presented in the scientific literature(AU)

Manejo da síndrome de Peutz-Jeghers no contexto de recursos limitados / Peutz-jeghers syndrome in resource-limited scenario

ABSTRACT BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a rare, autosomal dominant disease, caused by deletions in the chromosome 19p33.3/ gene LKB1/STK11. These mutations inactivate a serine/threonine kinase and predispose to carcinogenesis. In PJS, tumors of the gastrointestinal, testicles, pulmonary, breast, pancreas, uterus and ovaries can be found. OBJECTIVE: To evaluate demographics, clinical presentation and complication/outcomes of pediatric patients presenting with Peutz-Jeghers syndrome (PJS), as well as to present and discuss management in the context of limited resources. METHODS: We conducted a retrospective chart review of a cohort of six patients, who were diagnosed and/or followed at the Clinics Hospital, University of Campinas - Sao Paulo/Brazil, between 2000 and 2018. Data analyzed included gender, age of presentation, age of diagnosis, family history, PJS complications. RESULTS: Median age of diagnosis of 6.7 years, with a mean time of follow-up of 8.1 years. Mucocutaneous pigmentation was universally present. Half of the patients had a known family history at the time of diagnosis. On follow up, intestinal intussusception was documented in four out of six patients, in most (three), in different locations and in multiple occasions. The active investigation of siblings and parents of the index case led to the diagnosis of three first-degree relatives in the present case series. CONCLUSION: In this first pediatric PJS Brazilian case series, we report a wide spectrum of PJS manifestations and complications. In a resource limited scenario, despite limitations for the surveillance of complications, the relative frequency of complications was not higher than historically reported.

RESUMO CONTEXTO: A síndrome de Peutz-Jeghers (SPJ) é uma doença autossômica dominante rara, causada por deleções no cromossomo 19p33.3/gene LKB1/STK11. Essas mutações inativam uma serina/treonina quinase e predispõem à carcinogênese. Na SPJ, podem ser encontrados tumores do trato gastrointestinal, testicular, pulmonar, de mama, de pâncreas, de útero e de ovários. OBJETIVO: Avaliar dados demográficos, apresentação clínica e complicações de pacientes pediátricos que se apresentam com SPJ, além de apresentar e discutir o manejo no contexto de recursos limitados. MÉTODOS: Realizamos uma revisão retrospectiva de prontuários de uma coorte de seis pacientes, diagnosticados e/ou acompanhados no Hospital das Clínicas da Universidade de Campinas - São Paulo, Brasil, entre 2000 e 2018. Os dados analisados incluíram sexo, idade de apresentação, idade do diagnóstico, história familiar, complicações da SPJ. RESULTADOS: Idade média de diagnóstico de 6,7 anos, com tempo médio de seguimento de 8,1 anos. A pigmentação mucocutânea estava universalmente presente. Metade dos pacientes tinha um histórico familiar conhecido no momento do diagnóstico. Intussuscepção intestinal foi observada em quatro dos seis pacientes durante o período de acompanhamento, sendo que em três ocorreram vários episódios em diferentes múltiplas localizações. A investigação ativa de irmãos e pais do caso-índice levou ao diagnóstico de três parentes de primeiro grau na presente série de casos. CONCLUSÃO: Nesta primeira série de casos brasileiros de SPJ pediátrica, relatamos um amplo espectro de manifestações e complicações da SPJ. Em um contexto de recursos limitados, apesar das limitações para a vigilância de complicações, a frequência relativa de complicações não foi maior do que o relatado historicamente.

Tumor de los cordones sexuales con túbulos anulares ováricos asociado a síndrome de Peutz-Jeghers: reporte de un caso en la adolescencia / Tumor of the sexual cords with ovarian annular tubules associated with Peutz-Jeghers syndrome in adolescence: a case report

Los tumores de los cordones sexuales y estromales son neoplasias poco frecuentes, que corresponden al 8 % de los tumores primarios del ovario. El tumor de los cordones sexuales con túbulos anulares del ovario es considerado un subtipo y es infrecuente. Puede presentarse de manera esporádica o asociado al síndrome de Peutz-Jeghers y tiene diferente comportamiento y características en cada situación.Se presenta el caso de una paciente adolescente con diagnóstico de tumor de los cordones sexuales con túbulos anulares del ovario asociado a síndrome de Peutz-Jeghers

Tumors of the sexual and stromal cords are rare neoplasms, corresponding to 8 % of primary ovarian tumors. The tumor of the sexual cords with annular tubules of the ovary is considered a subtype and is uncommon. It can occur sporadically or associated with Peutz-Jeghers Syndrome, having different behavior and characteristics in each situation.We present the case of an adolescent patient with a diagnosis of a tumor of the sexual cords with annular tubules of the ovary associated with Peutz-Jeghers Syndrome

Poliposis hamartomatosa gastrointestinal con intususcepción intestinal, en paciente con Síndrome de PeutzJeghers: Presentación de un caso / Gastrointestinal Hamartomatous Polyposis with Intestinal Intususception in a Patient with Peutz-Jeghers Síndrome: A Case Report

Se trata del caso de una paciente de 17 años de edad, quien consulta por dolor abdominal posterior a un procedimiento endoscópico de resección de pólipo intestinal. La paciente tiene diagnóstico conocido de síndrome de Peutz Jeghers (SPJ), el cual se manifiesta por poliposis intestinal de tipo hamartomatoso e hiperpigmentación mucocutánea. En esta revisión se describen los principales hallazgos del SPJ en tomografía multicorte del abdomen, incluyendo la intususcepción que es una de las complicaciones más frecuentes de estos pacientes.

This article presents the case of a 17-year-old female patient with abdominal pain following an endoscopic procedure (polypectomy). The patient has a known diagnosis of Peutz-Jeghers syndrome (PJS), which is manifested by hamartomatous intestinal polyposis and mucocutaneous hyperpigmentation. This review presents the tomographic characterization of multiple gastric and intestinal polyps, including intussusception, which is one of the main complications in these patients.

Aspectos genéticos y clínicos del síndrome de Peutz Jeghers / Genetic and clinical aspects of Peutz Jeghers syndrome

El Síndrome de Peutz Jeghers (SPJ) es una enfermedad genética poco frecuente, que se caracteriza por máculas pigmentadas en piel y mucosas, asociado a pólipos hamartomatosos en el tracto digestivo, junto a un aumento en el riesgo del desarrollo tanto de cáncer gastrointestinal, como no gastrointestinal. El 70% de los casos de SPJ, se manifiesta como una condición hereditaria autosómica dominante, mientras que el 30% restante es el resultado de mutaciones espontáneas. El principal gen responsable es STK11/LKB1. Esta revisión actualizada aborda los principales aspectos clínicos y genéticos del síndrome.

Peutz Jeghers Syndrome (PJS) is a rare genetic disorder characterized by macular lesions on the skin and mucous membranes together with hamartomatous polyps in the gastrointestinal tract, with and increased risk of developing both gastrointestinal and non gastrointestinal neoplasms. Seventy percent of cases of SPJ manifest as an autosomal dominant inherited condition, whereas the remaining 30% are the result of spontaneous mutations. The STK11/LKB1 gene is the main cause of this disorder. The purpose of this updated review is to show the newest clinical and genetic aspects.

CLINICAL, EPIDEMIOLOGIC, AND ENDOSCOPIC PROFILE IN CHILDREN AND ADOLESCENTS WITH COLONIC POLYPS IN TWO REFERENCE CENTERS

Background - The main goal of this paper is to investigate the frequency, clinical profile, and endoscopic findings of children and teenagers submitted to colonoscopies. Methods - Patients of below 18 years of age, diagnosed with polyps by means of colonoscopies at two reference centers of pediatric endoscopy were followed-up between 2002 and 2012. The clinical variables evaluated in this study included: gender, recommendation of colonoscopy, associated signs and symptoms, age of onset of symptoms, age at identification of the polyp, interval of time between the onset of symptoms and the endoscopic diagnosis of colonic polyps, and family history of intestinal polyposis and/or colorectal cancer. The characteristics of the polyps also included: number, morphological type, histology, and distribution. Polyposis syndromes were also investigated. Results - From the 233 patients submitted to colonoscopies, polyps were found in 74 (31.7%) patients, with a median age of 6.6 years, of which 61% were male. Juvenile polyps were identified in 55 (74%) patients, with 7 (9%) characterized within the criteria for juvenile polyposis. Patients with intestinal polyposis syndromes were diagnosed in 35% of the patients. The most frequent clinical presentation was hematochezia. Abdominal pain with acute episodes of intestinal partial obstruction or intussusception with emergency laparotomy was observed in the majority of Peutz-Jeghers syndrome patients leading to an increased morbidity. Conclusions - Even though juvenile colonic polyps are the most frequent type of diagnosed polyps, the present study identified a significant level of children with polyposis syndromes (35%), associated with a higher morbidity of these individuals.

Objetivos - Conhecer a frequência, o perfil clínico, os achados endoscópicos, de crianças e adolescentes submetidos à colonoscopia em dois centros de referência em gastroenterologia e endoscopia pediátrica. Métodos - Foram avaliados e acompanhados pacientes com idade menor ou igual a 18 anos com diagnóstico de pólipos identificados à colonoscopia em dois centros de referência em endoscopia pediátrica no período de 2002 a 2012. As variáveis clínicas avaliadas foram: gênero, indicação da colonoscopia, sinais e sintomas associados, idade de início dos sintomas, idade à identificação do pólipo, intervalo de tempo entre início dos sintomas e diagnóstico endoscópico do pólipo colônico, história familiar de polipose intestinal e/ou câncer coloretal. Em relação às características dos pólipos foram descritos: número, tipo morfológico, histológico e distribuição. Foram estudadas também as síndromes poliposas (síndrome de Peutz-Jeghers, síndrome juvenil poliposa, síndrome poliposa adenomatosa familiar). Resultados - Dos 233 pacientes submetidos à colonoscopia, foram encontrados 74 (31,7%) pacientes com pólipos, com mediana de idade de 6,6 anos, 61% do gênero masculino. Pólipos juvenis foram identificados em 55 (74%) dos pacientes, sendo 7 (9%) com critérios diagnósticos de polipose juvenil. Pacientes com síndromes poliposas intestinais foram diagnosticados em 35% dos pacientes. Destes, 12% com diagnóstico de polipose adenomatosa familiar, 9% com síndrome juvenil poliposa e 8% com diagnóstico de Síndrome de Peutz-Jeghers. A apresentação clínica mais frequente foi o sangramento retal indolor. Nos pacientes com polipose adenomatosa familiar o principal motivo da indicação da colonoscopia foi para rastreamento da doença devido história familiar da síndrome poliposa. Um paciente apresentou adenocarcinomacoloretal, simultâneo ao diagnóstico da polipose adenomatosa aos 15 anos de idade. Dor abdominal com episódios agudos de semiobstrução ou intussuscepção intestinal com laparotomia de urgência foi observado nos pacientes com Peutz-Jeghers. Conclusões - Embora os pólipos colônicos juvenis sejam os mais frequentemente diagnosticados, foi observado um percentual significativo de crianças com síndromes poliposas (35%) associado a uma maior morbidade destas crianças. Desta forma concluímos ser importante estabelecimento de um protocolo de diagnóstico e seguimento dos pacientes afetados e familiares de risco.

Diagnostic difficulty in Peutz-Jeghers syndrome / Dificuldade diagnóstica na Síndrome de Peutz-Jeghers

A case of diagnostic difficulty facing the patient with colonic polyposis secondary to Peutz-Jeghers syndrome, but without family history and pathognomonic clinical features of the disease, is illustrated. The exams, including biopsy, led to diagnostic uncertainty and the definitive diagnosis was characterized in therapeutic of exception. (AU)

Ilustra-se um caso de dificuldade diagnóstica frente à paciente com polipose colônica secundária a Síndrome de Peutz-Jeghers, sem história familiar e sem características clínicas patognomônicas da doença. Os exames, incluindo biópsia, geraram dúvida diagnóstica, sendo o diagnóstico definitivo caracterizado em terapêutica de exceção. (AU)

Enteroscopia total de doble balón intraoperatoria asistida por laparoscopia en el tratamiento de Síndrome de Peutz-Jeghers: reporte de un caso / A Case Report of Complete Intraoperative Double-balloon Enteroscopy Assisted by Laparoscopy to treat of Peutz-Jeghers Syndrome

El síndrome de Peutz-Jeghers se caracteriza por pólipos hamartomatosos localizados principalmente en el intestino delgado. La mayoría de estos pacientes son sometidos a múltiples resecciones endoscópicas o quirúrgicas. Este caso trata de una paciente femenina quien fue sometida a enteroscopia de doble balón intraoperatoria asistida por laparoscopia para resección de pólipos.

Síndrome de Peutz-Jeghers em mulher com 21 anos / Peutz-Jeghers syndrome in a 21-year-old woman

A síndrome de Peutz-Jeghers é doença autossômica dominante rara e tem como características a presença de pigmentação melânica mucocutânea em lábios, região perioral e mucosa bucal, associada com polipose hamartomatosa do trato gastrointestinal. Portadores da síndrome têm elevada propensão de desenvolverem diversos tumores malignos. O objetivo do presente estudo é relatar um caso clássico da síndrome em mulher com 21 anos etários com hematoquezia, mas sem dor ou alterações do ritmo intestinal. Episódio semelhante havia ocorrido há alguns meses. Apresentava-se hipocorada e com manchas melanóticas múltiplas sem sangramento em mucosa oral, lábios e extremidades de dedos das mãos. Seu pai também apresentava manchas escuras na mucosa da boca e teve câncer de cólon. Os exames revelaram anemia crônica ferropriva, quatro pólipos sésseis na retossigmoidoscopia rígida e gastrite enantematosa leve de antro e múltiplos pólipos no antro na endoscopia digestiva alta. O exame histopatológico foi compatível com pólipos hiperplásicos sem atipias. As colonoscopias posteriores revelaram o diagnóstico histológico de pólipos de Peutz-Jeghers. Considerando as possíveis complicações associadas, destaca-se a importância do diagnóstico precoce e o acompanhamento multidisciplinar de pacientes com quadro clínico semelhante ao descrito.

Peutz-Jeghers syndrome is a rare dominant autosomal disorder characterized by the presence of mucocutaneous melanic pigmentation in the lips, perioral region and buccal mucosa, associated with hamartomatous intestinal polyposis. Individuals with this syndrome have a high tendency to develop diverse malignant tumors. The aim of the present study is to report a classical case of the syndrome in a 21-year-old woman with bleeding in stools, but without pain or changes in bowel movement. A similar episode had occurred a few months earlier. The patient was pale and had multiple non-bleeding melanotic spots in her mouth, lips and in the tips of her fingers. Her father also presented with black spots in his buccal mucosa and developed colon cancer. Exams revealed chronic anemia caused by iron deficiency, four sessile polyps on rigid retosigmoidoscopy, mild enanthematous antral gastritis, and multiple antral polyps on upper digestive endoscopy. The histopathological study was compatible with hyperplasic polyps without atypia. Subsequent colonoscopy studies revealed the histological diagnosis of ?Peutz-Jeghers polyps?. Due to potentially associated complications, the importance of an early diagnosis and multidisciplinary follow-up should be emphasized for patients with clinical features similar to those herein described.

Peutz-Jeghers como síndrome cutáneo y poliposis gastrointestinal / Peutz-Jeghers-like cutaneous syndrome and gastrointestinal polyposis / Peutz-Jeghers como síndrome cutânea e poliposis gastrointestinal

El síndrome de Peutz-Jeghers (SPJ) es un trastorno poco frecuente, de herencia autosómica dominante, caracterizado por la asociación de pigmentación mucocutánea y poliposis intestinal, los cuales están presentes desde la infancia y, a veces, conduce a la invaginación intestinal o hemorragia gastrointestinal con predisposición considerable a la malignidad.

Peutz-Jeghers syndrome (PJS) is a rare disorder of autosomal dominant inheritance, characterized by the association of cutaneous and mucosal pigmentation and intestinal polyps, which are present from childhood and can sometimes lead to intussusception or gastrointestinal bleeding with significant predisposition to malignancy.

A síndrome de Peutz-Jeghers (SPJ) é um transtorno pouco frequente, de herança autosómica dominante, caracterizado pela associação de pigmentação mucocutánea e poliposis intestinal, os quais estão presentes desde a infância e as vezes pode conduzir à intussuscepção intestinal ou hemorragia gastrointestinal com predisposição considerável à malignidade.

Síndrome de Peutz Jeghers, manifestaciones bucales y su relación con la odontopediatría / Peutz-Jeghers, bucal manifestations and its relationship with the pediatric dentistry

El odontólogo, deberá estar capacitado en el diagnóstico oportuno del Síndrome de Peutz Jeghers (SPJ) entidad autosómica dominante, que generalmente se presenta en los primeros años de vida; siendo el odontopediatra el profesional que iniciando la rutina del examen estomatológico a muy temprana edad, debería referir al especialista, para un manejo terapéutico adecuado. El Síndrome de Peutz Jeghers (SPJ) se caracteriza clínicamente por presentar máculas hiperpigmentadas en labios, mucosa, manos y pies; asociada a pólipos gastrointestinales; que ocasionan cuadros de anemia, obstrucción Intestinal y dolor abdominal, dichos pólipos además tienen un alto riesgo de transformarse en cáncer intestinal y/o extraintestinal. Presentamos el caso de un paciente masculino de 8 años, con pigmentaciones mucosas desde el nacimiento e historia de dolor abdominal; revisamos el tema y se analiza el protocolo de vigilancia y de tratamiento.

The dentist should be trained in the early diagnosis of Peutz Jeghers Syndrome (PJS), autosomal dominant disorder that usually occurs in the first years of life. A routine examination at an early age can make us refer the patient to a specialist for the appropiate therapeutic management. Peutz Jeghers Syndrome (PJS) is characterized clinically by hyperpigmented macules on the lips, mucosa, hands and feet associated with gastrointestinal polyps, which cause anemia, inestinal obstruction and abdominal pain. The polyps also have a high risk of transforming into intestinal and/or extraintestinal cancer. We reported the case of a 8 year old male patient, with mucosal pigmentation from birth and history of abdominal pain, we made a review of the literature and discussed the protocol for monitoring and treatment.

Peutz-Jeguers syndrome: case report and literature review

The Peutz-Jeghers syndrome is a rare disease characterized by the presence of mucocutaneous melanic pigmentation of the lips, oral mucosa and perioral region, associated with hamartomatous intestinal polyposis. Malignization of the polyps and association with other types of cancer are also usual. Case report: 32-year-old patient, female, white, who had an intestinal occlusion by invagination, discovered during laparotomy, when an intestinal tumor was found as well. The material was sent to anotomopathological analysis. However, the results did not allow to identify the tumor nature due to tumor necrosis. Then, the patient was sent to our service because of the intestinal polyps, and during the interview, the characteristic melanic pigmentation was observed. Videocolonoscopy was performed, with excision of two rectal polyps, identified in the anatomopathological exam as hamartomatous polyps. The patient reported anal imperforation at birth, just like her brother. He had unexplained death. The authors found no correlation of the Peutz-Jeghers syndrome with anal imperforation in the literature and asked the patient if her brother also had the syndrome. (AU)

A síndrome de Peutz-Jeghers é uma doença rara que tem como características a pigmentação melânica mucocutânea de lábios, regiões perioral e de mucosa bucal associada à polipose hamartomatosa do trato intestinal, com possibilidade de malignização dos pólipos digestivos e associação com outros tipos de câncer. Relato de Caso: Paciente de 32 anos, de gênero feminino, branca, apresentou um quadro de oclusão intestinal por uma invaginação, evidenciada durante laparotomia exploradora, constatando-se, ainda, a presença de uma tumoração intestinal. O material foi encaminhado para exame anatomopatológico; porém, foi inconclusivo para a natureza da tumoração em decorrência da necrose. Em função do pólipo intestinal, a paciente foi encaminhada ao nosso serviço, quando percebemos a presença de pigmentação melânica característica. Realizamos videocolonoscopia com achado de dois pólipos de reto cujo resultado do exame anatomopatológico foi de pólipo hamartomatoso. A paciente relatou ainda ter nascido com imperfuração anal e possuir irmão que também nascera com a mesma imperfuração e que evoluiu para óbito não esclarecido. Não encontramos relato na literatura de associação da síndrome de Peutz-Jeghers com imperfuração anal e interrogamos se o irmão teria também a síndrome. (AU)

Tumor de Sertoli variante célula grande calcificante asociado a síndrome de peutz-jeghers / Large cell calcifying sertoli cell tumor associated with peutz-jeghers syndrome

El tumor de células de Sertoli calcificante de células grandes (TCSCCG) es una neoplasia testicular muy rara, con 60 casos descritos en todo el mundo; en Latinoamérica y Colombia son escasos los casos reportados en la literatura. Esta neoplasia se origina en el estroma gonadal/cordones sexuales, y, en general, tiende a mostrar un comportamiento biológico benigno. Se piensa que estos tumores tienen características de presentación diferente, dependiendo de si se presentan en el contexto de un síndrome congénito complejo, en cuyo caso tienden a ser bilaterales y multifocales, en contraposición a los no asociados a síndromes, que tienden a ser unilaterales y focales. El estudio de inmunohistoquímica es fundamental para el diagnóstico; en especial, para diferenciar estos tumores de neoplasias germinales. Se reportan en esta investigación tres casos de esta neoplasia, uno de ellos asociado al síndrome de Peutz-Jeghers, y haciendo énfasis en los criterios histológicos para definir malignidad.

The large cell calcifying Sertoli cell tumor (LCCSCT) is a very rare testicular tumor with 60 cases reported worldwide; in Latin America and Colombia, few cases are reported in the literature. This neoplasm originates in the gonadal stromal/sex cord, and, in general, tends to display benign biological behavior. It is thought that these tumors may display differing characteristics: depending upon whether they occur in the context of a complex congenital syndrome, in which case they tend to be bilateral and multifocal; as opposed to those not associated with syndromes, which tend to be unilateral and focal. Immunohistochemical study is essential for diagnosis, in particular, to differentiate these tumors from germ cell tumors. This study reports on three cases of this tumor--one associated with Peutz-Jeghers Syndrome—and emphasis is given to histological criteria to define malignancy.

Aspectos etiopatogênicos do câncer exócrino do pâncreas. Relato de caso / Etiopathogenic aspects of the exocrine pancreatic cancer. Case report

JUSTIFICATIVA E OBJETIVOS: Nos últimos 30 anos tem sido observado aumento significativo na prevalência populacional do câncer exócrino pancreático, notadamente na sua forma mais comum, o adenocarcinoma ductal primário. Um volumoso conjunto de fatores etiopatogênicos, manifestações e de complicações clínicas associadas têm sido relatadas, priorizando um viés de doença sistêmica para esta neoplasia regional do abdômen. O objetivo deste estudo foi relatar os aspectos etiopatogênicos do câncer de pâncreas a partir de um caso da rara síndrome de Peutz-Jeghers. RELATO DO CASO: Paciente do sexo feminino, 79 anos, tabagista e portadora de síndrome de Peutz-Jeghers, apresentando queixa de importante emagrecimento nos últimos meses e dificuldade recente de compensação de diabetes mellitus pré-existente. O exame físico do abdômen revelava presença de massa palpável no epimesogástrio. Apresentava manchas pigmentadas no lábio inferior, tonalidade difusamente escurecida da pele e impregnação melânica no palato. Os exames laboratoriais acusavam presença de anemia, hipoalbuminemia, hiperglicemia importante e dosagens normais de CA 19-9 e CEA. A tomografia computadorizada (TC) espiral do abdômen revelou lesão hipodensa na cabeça pancreática com dilatação universal do ducto de Wirsung e linfonodomegalias peripancreaticas. Diversas e pequenas imagens hipodensas no fígado, sugestivas de implantes secundários, bem como sinais de comprometimento da veia mesentérica superior, também foram observadas ao exame tomográfico. Um diagnóstico clínico de tumor exócrino maligno do pâncreas com doença em estágio avançado foi feito e confirmado por biopsia hepática guiada por TC, a qual demonstrou padrão de adenocarcinoma. CONCLUSÃO: Três fatores etiopatogênicos estão presentes nesta paciente: tabagismo de longa data, a existência de diabetes e a história conhecida de síndrome de Peutz-Jeghers.

BACKGROUND AND OBJECTIVES: In the last thirty years a significant increase in the population prevalence of exocrine pancreatic cancer has been observed, especially in its most common form, primary ductal adenocarcinoma. A series of etiopathogenic factors, manifestations and medical complications have been reported, giving priority bias to systemic disease for this regional cancer of the abdomen. The aim of this study was to review the etiopathogenic aspects of pancreatic cancer from a rare case of Peutz-Jeghers. CASE REPORT: Female patient, 79 year-old, smoker patient with known Peutz-Jeghers syndrome complained of significant weight loss in the past months and recent difficulty in managing her existing diabetes mellitus. Physical examination of the abdomen revealed a palpable mass in mesogastric space. The patient shows pigmented macules on the lower lip, diffusely darkened skin pigmentation and melanin impregnation of the palate. Laboratory tests accused anemia, hypoalbuminemia, important hyperglycemia and normal serum CA 19-9 and CEA. The spiral CT of the abdomen revealed a hypodense lesion in the pancreatic head with universal dilation of the Wirsung duct and peripancreatic lymph nodes. Several small hypodense images in the liver suggestive of secondary implants, as well as signs of involvement of the superior mesenteric vein were also observed in the CT scan. A clinical diagnosis of malignant tumor of the exocrine pancreas with advanced disease was suggested and confirmed by liver biopsy guided by computerized tomography, which was in accordance with adenocarcinoma.CONCLUSION: Three etiopathogenic factors are present in this patient: a long time smoking history, the existence of diabetes and known history of Peutz-Jeghers.

Valor de la ortopantomografía en la poliposis familiar de colon

El hecho de existir entre nuestros pacientes varias familias con poliposis cólica familiar nos motivó a realizarles estudios panorámicos de mandíbula, en busca de osteomas. Nuestro material estuvo constituido por 9 miembros con poliposis adenomatosa familiar, 3 con síndrome de Peutz-Jeghers y 2 con poliposis juvenil familiar. Como grupos testigos, 55 pacientes normales y 28 con lesiones polipoideas no familiares. Observamos osteomas en: 78 % de las poliposis familiares, 3,5 % de las no familiares y en el 7,2 % de los testigos normales. La prueba de probabilidad de Fisher dio diferencias significativas entre la poliposis adenomatosa familiar y los testigos normales y las poliposis no familiares. Un paciente con poliposis adenomatosa familiar presentó lesiones dentarias (7,1 %). Se recomienda estudio panorámico de mandíbula a todos los casos de poliposis familiares y a los miembros sin pólipos de esta familia, así como el estudio, por el gastroenterólogo, de aquellos casos con osteomas mandibulares, a fin de diagnosticar precozmente la presencia de una poliposis.

Several families presenting with familial polyposis coli among our patients were studied by a panoramic study of the mandible in order to know whether they had osteomas. The material of this study consisted of 9 family members presenting with familial adenomatous polyposis, 3 with Peutz-Jeghers syndrome, 2 with familial juvenile polyposis, and 28 with non-familial polypoid lesions. Osteomas were observed in 78 % of patients with familial polyposis, in 3.5 % of cases with non-familial polyposis, and in 7.2 % of the control group. Fisher's probability test yielded significant differences between cases with familial adenomatous polyposis and the control group, and cases with non-familial polyposis. One patient presenting with familial adenomatous polyposis had dental lesions (7.1 %). It is recommended to carry out a panoramic study of the mandible in all cases having familial polyposis and in all family members without polyps, as well as to study, by the gastroenterologist, those cases presenting with mandibular osteomas with the aim of making an early diagnosis of the disease.