Rapunzel syndrome and gastric Peutz Jeghers (hamartomatous) polyps: case report

Rapunzel syndrome is an extremely rare complication of a trichobezoar. These females have a history of trichophagia and trichotillomania. Peutz Jeghers syndrome (PJS) is an uncommon autosomal dominant syndrome with a variable to high penetrance that leads to the development of the polyps within the gastrointestinal mucosa. This case report of a 25-year-old deaf and dumb female presented with pain and lump in upper abdomen, vomiting, nausea, loss of appetite, loss of weight. An exploratory laparotomy with anterior gastrotomy was performed and a giant trichobezoar with tail extending into the duodenum was removed. There were multiple polyps in the lower stomach excised. Histopathology reports showed Peutz Jeghers (hamartomatous polyps). She recovered well and was discharged on the 10th day. Patient was advised regular follow up.

Preliminary study on double-balloon enteroscopy in the treatment of Peutz-Jeghers syndrome polyp with intussusception in children / 中国小儿急救医学

Objective:To assess the value of double-balloon enteroscopy(DBE)in the treatment of Peutz-Jeghers syndrome(PJS)polyp with intussusception in children.Methods:A total of 14 cases with PJS polyp with intussusception were collected in Gastroenterology Department of Beijing Children′s Hospital Affiliated to Capital Medical University from July 2019 to January 2023.The general information, clinical manifestations, history of surgeries, abdominal ultrasound, enteroscopy and postoperative outcomes were retrospectively analyzed.Results:Fourteen cases with intussusception of PJS(including nine boys and five girls) were enrolled, and the average age was(10.25±2.52)years.There were 21 small intestinal intussusceptions in 14 cases, including eight cases of single intussusception and six cases of multiple intussusceptions.All the patients underwent DBE examination and treatment.A total of 215 small intestinal polyps were removed, no direct complications such as bleeding or perforation were found during the operation.Twelve cases were confirmed intussusception relieved by DBE, and the average maximum diameter of polyps causing intussusception was(4.38±1.43)cm.In addition, DBE did not reach the site of intussusception polyp in one case, and another case developed intestinal obstruction after DBE operation, which were treated by surgery.Conclusion:DBE provides a relatively effective method for the treatment of PJS polyps with intussusception without complete ileus in children.

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.

Preliminary treatment experience of double-balloon enteroscopy in children with intussusception caused by Peutz-Jeghers syndrome / 中华消化内镜杂志

Peutz-Jeghers syndrome (PJS) presents in early childhood, and children have a higher risk of intussusception due to a smaller abdominal space than adults. Double-balloon enteroscopy (DBE) has been proven to be a safe and effective method for the diagnosis and treatment of small bowel lesions, but the efficacy and safety of its prophylactic polypectomy in children with PJS need to be determined. Data of 6 children (median age 10.6 years) diagnosed as having PJS from 2018 to 2020 were reviewed. DBE was performed 14 times, and 3 children were successfully relieved of intussusception after DBE treatment. The sizes of the resected intussusception polyps were 50 mm×60 mm, 40 mm×35 mm, and 50 mm×40 mm. Symptoms associated with polyps (abdominal pain, intussusception and obstruction) relieved after DBE in all children. No direct complications such as bleeding or perforation were found during the operation, and no recurrence of intussusception was found during follow-up. It can be seen that DBE polypectomy is safe and effective in the treatment of intussusception caused by PJS.

Application value and treatment opportunity of enteroscopy in children with Peutz-Jeghers syndrome / 中华实用儿科临床杂志

Objective:To investigate the application value and treatment opportunity of single balloon enteroscopy in children with Peutz-Jeghers syndrome(PJS).Methods:A retrospective analysis was conducted on 33 children diagnosed with PJS in Hunan Children′s Hospital from January 2011 to September 2021.The patient′s age, gender, family history, clinical symptoms, enteroscopy examination and treatment, number of polyps, intraoperative and pos-toperative complications, surgical treatment, recurrence of surgery, and follow-up data were analyzed, and the chi- square test was used for statistical analysis. Results:A total of 33 PJS children aged (9.00±3.13) years, including 21 males and 12 females, were included.All of them received at least once single balloon enteroscopy test.The main manifestations of the children were black spots (33 cases) and multiple polyps in the digestive tract (31 cases). In all the 33 cases, black spots were distributed on lips.Some black spots were also found at the end of fingers (3 cases), at the end of foot toes(2 cases), and at the end of finger toes (6 cases). During the operation, 391 polyps were removed, most of which were jejunum polyps (37.08%, 145/391 polyps). Eleven children with PJS has intussusception, of which intestinal intussusception accounted for 90.91% (10/11 cases). Ten cases (30.30%, 10/33 cases) received surgical treatment, and 72.73% (8/11 cases) underwent surgery for acute refractory intussusception.One case had intestinal perforation and 2 cases were bleeding during the operation, and the 3 cases recovered completely after hemostatic clip sealing and surgical treatment.The incidence of hollow ileum polyps and giant polyps in children aged >8 years was higher than that in children aged ≤8 years[92.55% (149/161 polyps) vs.7.45%(12/161 polyps), 96.20%(76/79 polyps) vs.3.80% (3/79 polyps)]. The differences were statistically significant ( χ2=9.854, 8.711, all P<0.05). There was no significant difference in the incidence of intussusception among different age groups ( P>0.05). Among the 33 children with PJS, 57.58% (19/33 cases) had recurrence 1-3 years after operation, and no cases of cancer have been followed up so far. Conclusions:Intestinal polyps are common in children with PJS, and the application of single-balloon enteroscopy in children with PJS is reliable and safe.Children over 8 years old are more vulnerable to empty ileum polyps and giant polyps.Therefore, it is advised that children aged above 8 years with PJS should undergo at least once enteroscopy.

Peutz-Jeghers Syndrome: An outline on Diagnosis and Management

Peutz-Jeghers Syndrome (PJS) is a rare inherited autosomal dominant disorder characterized by pigmented mucocutaneous melanotic macules and hamartomatous polyps. PJS arises due to mutations in STK11 gene located on chromosome 19q 13.3 and predisposes the patients to a multitude of malignancies with an estimated cumulative risk of 81% - 93%. Breast, gastrointestinal tract, pancreas, reproductive system and lung are common sites of development of malignancies in these patients. Anemia, rectal bleeding, abdominal pain, obstruction and intussusception are the usual complications in patients with PJS leading to multiple interventions. Upper GI endoscopy and Double Balloon Enteroscopy (DBE) allows screening of the gastrointestinal tract. Polypectomy of hamartomas more than 1 cm carried out at the time of surveillance endoscopy, abates the complications like bleeding, obstruction and intussusception. When DBE is not feasible, intraoperative endoscopy (IOE) is helpful to evaluate the entire gastrointestinal tract during surgery. IOE is also crucial for removal of all small intestinal polyps. Imaging techniques like magnetic resonance enterography and computed tomography enterography and video capsule endoscopy are non-invasive options for evaluation and screening in these patients. Sixty eight percent of the patients require emergency surgery during their lifetime. Regular cancer screening protocols should be instituted for early detection of malignancies. Genetic counseling and screening of other first degree family members helps in their preemptive identification and management. Chemoprevention using mTOR inhibitors, COX-2 inhibitors could be helpful in polyp reduction.

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)

Peutz-Jeghers syndrome: an unusual autopsy finding in pregnancy

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant polyposis entity that often remains undiagnosed. The major problems associated with PJS are acute complications due to (i) polyp-related intestinal obstruction, (ii) intussusception, and (iii) the risk of cancer in the long-term. We report the case of a 32-year-old female who presented at the emergency room with signs of acute abdomen and died during the clinical workup. She had a one-month history of nausea, vomiting, and diarrhea and was pregnant at about 30 weeks. There was no contributing past history except for undergoing small bowel resection in infancy. The postmortem examination revealed multiple arborizing polyps throughout the gastrointestinal tract, chiefly in the small bowel. Intestinal obstruction was found at the proximal jejunum with necrosis, perforation, and peritonitis. Histologically, the polyps were composed of tree branch-like bundles of smooth muscle covered by normal-appearing glandular epithelium, confirming the diagnosis of hamartomatous polyps. No malignant or premalignant lesions were detected in the gastrointestinal tract or other organs. This case was an opportunity to analyze the natural history and the pathological features of the Peutz-Jeghers syndrome in an adult and to investigate the presence of neoplastic lesions associated with this condition.

Peutz-Jeghers syndrome: an unusual autopsy finding in pregnancy

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant polyposis entity that often remains undiagnosed. The major problems associated with PJS are acute complications due to (i) polyp-related intestinal obstruction, (ii) intussusception, and (iii) the risk of cancer in the long-term. We report the case of a 32-year-old female who presented at the emergency room with signs of acute abdomen and died during the clinical workup. She had a one-month history of nausea, vomiting, and diarrhea and was pregnant at about 30 weeks. There was no contributing past history except for undergoing small bowel resection in infancy. The postmortem examination revealed multiple arborizing polyps throughout the gastrointestinal tract, chiefly in the small bowel. Intestinal obstruction was found at the proximal jejunum with necrosis, perforation, and peritonitis. Histologically, the polyps were composed of tree branch-like bundles of smooth muscle covered by normal-appearing glandular epithelium, confirming the diagnosis of hamartomatous polyps. No malignant or premalignant lesions were detected in the gastrointestinal tract or other organs. This case was an opportunity to analyze the natural history and the pathological features of the Peutz-Jeghers syndrome in an adult and to investigate the presence of neoplastic lesions associated with this condition.

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

Recurrent intestinal obstruction in a patient of Peutz–Jeghers syndrome

Peutz–Jeghers syndrome is a rare hamartomatous polyposis syndrome characterized by the presence of intestinal polyps and mucocutaneous melanotic pigmentations. It is associated with various gastrointestinal and extraintestinal malignancies. This case report deals with the clinical presentation, investigations, operative findings, and outcome of a patient harboring this disease. A 45-year-old female presented to us with intermittent colicky abdominal pain for the last 6 months and a single episode of melena 1 month back. She had a previous history of resection of a jejunal growth 22 years back. The histopathology report was suggestive of papillary adenocarcinoma. On examination, hyperpigmented macules were seen on her lips and buccal mucosa. Laparotomy revealed multiple polyps mainly in the proximal small intestine and a focus of ileoileal intussusception. A limited resection was done

Incidence of malignancy in intestinal polyp of Peutz-Jeghers Syndrome: Case Series

Introduction: Peutz-Jeghers syndrome is also known as “Hereditary Intestinal Polyposis Syndrome”. It is an autosomal dominant disease, characterized by the development of benign hamartomatous and adenomatous polyps in the gastrointestinal tract, and hyperpigmented macules on the lips, nostrils, buccal mucosa, palmer surfaces of the hands, genitalia and perianal region. Its incidence is 1 in 200000 births. 25 cases of Peutz-Jeghers Syndrome were studied in tertiary health centre. Diagnosis of Peutz-Jeghers Syndrome was made on the basis of clinical details, radiology reports and the histopathological study. The patients were from both urban and rural areas of Ujjain. The entire study was retrospective study. Aims and Objectives: To study the incidence of malignancy in intestinal polyp of Peutz-Jeghers Syndrome. Materials and Methods: Polyps from patients with Peutz-Jeghers Syndrome were studied in the histopathology department. The corresponding medical records were reviewed to confirm that the diagnosis of Peutz-Jeghers Syndrome. Hematoxylin and Eosin (H&E) stain was used for the histopathological diagnosis. Particular attention was paid to the presence and pattern of distribution of network of connective tissue, smooth muscle, lamina propria and glands lined by intestinal epithelium. Results and Conclusion: We evaluated colonic polyps from 25 patients of Peutz-Jeghers Syndrome. Out of all patients, none of the intestinal polyps turned out to be malignant. The incidence of malignancy in intestinal polyps in Peutz-Jeghers Syndrome as per this study is insignificant.

Analysis of STK11 gene variants among 64 patients with Peutz-Jeghers syndrome / 中华医学遗传学杂志

Objective@#To screen for pathogenic variants in the coding regions of STK11 gene among Chinese patients with Peutz-Jeghers syndrome (PJS).@*Methods@#Peripheral blood samples were collected from 64 patients. The coding regions of the STK11 gene were detected by PCR and Sanger sequencing.@*Results@#Fourty-eight patients were found to harbor STK11 gene variants, which included 39 types of variants consisting of missense, nonsense, insertional, deletional and splice site variants. Among 64 PJS patients, the detection rate of point variants was 75.00% (48/64), of which missense variants accounted for 29.17% (14/48), nonsense variants accounted for 29.17%(14/48), insertion variants accounted for 2.08% (1/48), deletional variants accounted for 10.42% (5/48), and splice site variants accounted for 29.17% (14/48). The detection rates of sporadic cases and those with a family history were 71.8% (28/39) and 80.0% (20/25), respectively. Two variants (c.250A>T, c. 580G>A) occurred in 3 PJS probands. Thirteen variants were unreported previously and were considered to be pathogenic.@*Conclusion@#The detection rate of variants among Chinese PJS patients is similar to that of other countries. A number of novel common variant sites were discovered, which enriched the spectrum of PJS-related variants.