Ileo-ileal intussusception secondary to a Peutz-Jeghers hamartomatous polyp in an infant.

We report the case of ileo-ileal intussusception secondary to a Peutz-Jeghers syndrome (PJS) hamartomatous polyp in a male infant. The patient presented with non-bilious vomiting and a single episode of passing blood in his stool. An upper gastrointestinal contrast study showed proximal bowel obstruction. At laparotomy, ileo-ileal intussusception was identified with a papillary mass acting as a lead point. The mass was resected, and a primary anastomosis was performed. The patient recovered well and was discharged on postoperative day 5. Histological assessment diagnosed a PJS hamartoma. The patient was well at 1 month follow-up. This case report describes a rare cause of intussusception in an infant that should be considered in the differential diagnosis. The diagnosis of PJS in infancy is uncommon and requires long-term follow-up.

When synchronous mucinous metaplasia and neoplasia of the female genital tract and peutz-jeghers syndrome meet: a case report and literature reviews.

BACKGROUND: Peutz-Jeghers syndrome (PJS) is characterized by the presence of hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation on the lips, oral mucosa, nose, fingers, and toes. Synchronous mucinous metaplasia and neoplasia of the female genital tract (SMMN-FGT) refers to the occurrence of multifocal mucinous lesions in at least two sites, including the cervix, uterus, fallopian tubes, and ovaries, in the female genital tract. SMMN-FGT and PJS are rare diseases with a very low incidence, especially when occurring simultaneously. CASE PRESENTATION: We report a case in which a woman with a large mass on the left ovary underwent a gynecological surgery and was diagnosed with cervical gastric-type adenocarcinoma and mucinous lesions in the endometrium, bilateral fallopian tubes, and ovary, i.e., SMMN-FGT, by postoperative paraffin pathology. The patient sought medical attention for abdominal distension and enlargement. A gynecological ultrasound revealed a multilocular cystic mass in the pelvis, while serum tumor markers were within normal limits, with mildly elevated carbohydrate antigen 199 and carbohydrate antigen 125 levels. Cervical thin-prep cytology test result was negative. The patient had a family history of PJS with black spots on her skin and mucous membranes since the age of 8 years. She underwent multiple partial small bowel resections and gastrointestinal polypectomy owing to intestinal obstruction and intussusception. She underwent left adnexectomy, hysterectomy, right salpingectomy, greater omental resection, appendectomy and right ovary biopsy, and received six courses of adjuvant chemotherapy with Lopressor plus Carboplatin. Genetic testing revealed a heterozygous serine threonine kinase 11 germline mutation and there were no signs of recurrence during the 18-month follow-up period after treatment. CONCLUSIONS: This is a rare case in which PJS was complicated by SMMN-FGT. Owing to its extreme rarity, there are no guidelines, but reported cases appear to indicate a poor prognosis. We retrospectively reviewed all cases of collisions between PJS and SMMN-FGT and explored the clinical features, pathological characteristics, diagnosis, treatment methods, and prognosis when the two diseases coexisted. The aim is to deepen the clinicians' understanding of this disease for early detection, diagnosis and treatment.

Peutz-Jeghers syndrome with polyps in the stomach, duodenum, and small and large intestine: a case report.

BACKGROUND: Peutz-Jeghers syndrome is a rare hereditary condition characterized by gastrointestinal polyps and pigmented oral lesions. The case contributes to a deeper understanding of Peutz-Jeghers syndrome and underscores the significance of interdisciplinary collaboration for accurate diagnosis and tailored therapeutic strategies. CASE DESCRIPTION: We present a case of a 15-year-old Afghan female patient with multiple polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. Despite previous medical visits and colonoscopies, her symptoms persisted. A multidisciplinary team discussed the case and recommended further investigations and interventions. A polypectomy was performed, confirming the presence of hamartomatous polyps. The patient was diagnosed with Peutz-Jeghers syndrome, but during the course of treatment she went through complications and was managed surgically as well. CONCLUSION: Timely polyp removal and lifelong surveillance are crucial in managing Peutz-Jeghers syndrome. Further research and genetic analysis are needed to improve understanding and management of this rare disorder.

Gentle Giant? Giant Gastric Solitary Peutz-Jeghers Polyp.

Solitary hamartomatous polyps with identical pathological features of the typical hamartomas of the Peutz-Jegher syndrome are extremely rare. These solitary lesions lack the associated intestinal polyposis, classic mucocutaneous pigmentation, and family history typifying the Peutz-Jegher syndrome. We describe the case of a 31-year-old woman with a giant solitary gastric hamartoma endoscopically diagnosed and laparoscopically resected.

Máculas hiperpigmentadas y prolapso rectal, ¿qué debemos sospechar? / Hyperpigmented macules and rectal prolapse, what should we suspect?

El síndrome de Peutz-Jeghers (SPJ) es un síndrome autosómico dominante con una incidencia de 1 de cada 200 000 nacidos vivos. Las manifestaciones clínicas más frecuentes son las máculas hiperpigmentadas típicamente localizadas en la mucosa oral y la presencia de pólipos en el tracto gastrointestinal. A diferencia de la edad adulta, en Pediatría es excepcional el desarrollo de patología tumoral maligna. Sin embargo, en la edad pediátrica hay que tener un elevado índice de sospecha ante un paciente con diagnóstico de SPJ que presenta dolor abdominal compatible con una invaginación intestinal, ya que esta complicación es relativamente frecuente y precisa tratamiento quirúrgico urgente. Una vez realizado el diagnóstico de esta enfermedad, se deberán llevar a cabo controles periódicos mediante endoscopias a partir de los ocho años de edad (AU)

Peutz-Jeghers syndrome (PJS) is an autosomal dominant syndrome with an incidence of 1 in 200,000 live births. The most frequent clinical manifestations are hyperpigmented macules typically located on the oral mucosa and the presence of polyposis in the gastrointestinal tract.Unlike adulthood, in pediatrics the development of malignant tumor pathology is exceptional. However, in the pediatric age group, a high index of suspicion must be maintained when faced with a patient diagnosed with PJS who presents with abdominal pain compatible with intussusception, since this complication is relatively frequent and requires urgent surgical treatment. Once the diagnosis of this disease has been made, periodic controls should be carried out by means of endoscopies starting at eight years of age. (AU)

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.

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.

Síndrome de Laugier-Hunziker / Laugier-Hunziker syndrome

El síndrome de Laugier-Hunziker es un trastorno pigmentario adquirido poco frecuente, caracterizado por presentar lesiones hiperpigmentadas cutaneomucosas idiopáticas que pueden asociarse a melanoniquia longitudinal. A pesar de ser considerado una enfermedad benigna sin manifestaciones sistémicas ni potencial maligno, es clave realizar el diagnóstico diferencial con otros trastornos pigmentarios, en especial con el síndrome de Peutz-Jeghers. Se presenta aquí el caso de un paciente con este síndrome poco frecuente. (AU)

Laugier-Hunziker syndrome is a rare acquired pigmentary disorder that is characterized by idiopathic mucocutaneous pigmentation that may be associated with longitudinal melanonychia. Although this syndrome is considered a benign disease with no systemic manifestations or malignant potential, it is important to rule out other mucocutaneous pigmentary disorders, especially Peutz-Jeghers syndrome. We report the case of a patient with this unusual syndrome. (AU)

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)

Peutz-Jeghers Syndrome with Adenomatous Change in a Fifteen-month-old Boy / 대한소화기학회지

Peutz-Jeghers syndrome (PJS) is a very rare genetic disorder. PJS carries a high risk of developing gastrointestinal (GI) cancer or non-GI cancer with advancing years. However, major symptoms of PJS in childhood are obstruction, intussusception, and bleeding from hamartomatous intestinal polyps which in majority of cases are not related to cancer. Generally, first GI symptom develops by 20 years in one half of children diagnosed with PJS. Children under two years of age who had PJS polyp-related intestinal symptoms are rare, and there have been no published report on intestinal carcinoma development, adenomatous change or dysplasia of polyps in Korean children with PJS. Recently, the authors have experienced a case PJS with adenomatous polyp change in a 15-month-old boy who had STK11 gene mutation. Therefore, early evaluation could be necessary and considered in children with PJS.

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)

Recurrent small intestine intussusception in a patient with Peutz-Jeghers syndrome / Invaginación recurrente del intestino delgado en un paciente con síndrome de Pentz-Jeghers

Peutz-Jeghers syndrome is a rare hereditary autosomal dominant disease caused by a mutation of the tumor suppressor gene serine/threonine kinase 11 located in chromosome 19p13.3. It is characterized by the presence of extensive mucocutaneous pigmentation, especially of the lips and the occurrence of hamartomatous polyps throughout the gastrointestinal tract. Gastrointestinal hamartomas occur predominantly in the small intestine and can become symptomatic leading usually to intestinal obstruction and abdominal pain. We present a case of recurrent intestinal obstruction caused by small bowel intussusception treated by reduction, enterotomy and polypectomy and followed by intraoperative enteroscopy and endoscopic polypectomy(AU)

Tumor de células de Sertoli calcificante, de células grandes: caso clínico / Large cell calcifying Sertoli cell tumor: Report of one case

Sertoli Cell Tumors are less than 1 percent of all testicular tumors. We report a 14-year-old male presenting with a left testicular mass. Orchiectomy was carried out and the pathological study informed a large cell calcifying Sertoli cell tumor (LCCSCT). Its association with the Carney complex and Peutz-Jeghers Syndrome was subsequently discarded. Surgical excision was completed with a radical orchiectomy. After eight months of follow up, there is no evidence of tumor relapse.

Síndrome de Peutz-Jeghers complicado: reporte de un caso / Intestinal obstruction in a patient with Peutz-Jeghers syndrome: report of one case

El Síndrome de Peutz-Jeghers (SPJ), es una patología poco frecuente, hereditaria, autosómica dominante, caracterizada por la pigmentación de la mucosa oral y de la piel plantar y palmar, junto a una poliposis gastrointestinal de tipo hamartomatoso. En su crecimiento dicho pólipos pueden llegar a complicarse y causar intususcepción, obstrucción y hemorragias intestinales. La mutación genética asociada a éste síndrome es en el cromosoma 19p, en el gen STK 11, y en la enzima LKB 1, que disminuye su función de supresión de tumores. Hay un aumento de la enzima Cox-2, pudiendo llegar a asociarse a una mayor incidencia de cáncer gastrointestinal y extraintestinal, por lo que es importante una pesquisa precoz de los pólipos. El objetivo de este trabajo, es reportar un caso de Íleo mecánico a nivel del yeyuno proximal como una complicación aguda de una poliposis de larga evolución por SPJ, que consultó en nuestro Servicio de Urgencia y que requirió de una laparotomía exploradora.

The Peutz-Jeghers syndrome (PJS) is an uncommon hereditary autosomal dominant disease, characterized by pigmentation of oral mucosa, plantar and palmar skin and gastrointestinal hamartomatous polyposis. When these polyps grow they can cause intussusceptions, intestinal obstruction and hemorrhages. We report a 38 years oíd male admitted for an intestinal obstruction. He had pigmentations of lips and palms of the hands. He was operated, finding a dilatation and thickening of thefirst 50 cm of jejunum. In the zone of obstruction, three intraluminal tumors of approximately 3.5 cm diameter were palpated. Similar tumors were palpated in transverse and descending colon. Approximately 20 cm of dilated proximal jejunum were excised. The pathology report informed the presence of hamartomatous polyps, confirming the diagnosis of Peutz-Jeghers syndrome.

Síndrome de Peutz-Jeghers / Peutz-Jeghers syndrome

El síndrome de Peutz-Jeghers es un raro proceso hereditario que suele iniciarse en la infancia. Se caracteriza por la presencia de lesiones cutáneas pigmentadas y pólipos gastrointestinales. Numerosos estudios revelan una incidencia elevada de cáncer (gastrointestinal y extradigestivo) en estos enfermos y su aparición a temprana edad, así como su asociación con tumores ováricos y testiculares. Por ello, es necesario un estrecho seguimiento y un tratamiento agresivo de estos enfermos. Presentamos 2 hermanos afectados de síndrome de Peutz-Jeghers cuyo padre y abuelo fallecieron a consecuencia de cáncer digestivo relacionado con la enfermedad (AU)

Peutz-Jeghers syndrome is an inherited disorder which usually debuts during childhood. It is characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract. Numerous reports indicate a high incidence of gastrointestinal and extraintestinal cancer in these patients, their appearance at a young age, as well as its association with ovarian and testicular tumors. An aggresive approach of these patients seems to be necesary. We report the case of two brothers suffering from Peutz-Jeghers syndrome whose father and grandfather died as a consecuence of the progression of an intestinal cancer related to the síndrome (AU)

Consecuencias dentales después del tratamiento quirúrgico en un paciente con síndrome de Peutz-Jeghers / Dental consequences after surgical treatment in a patient with Peutz-Jeghers syndrome

El síndrome de Peutz-Jeghers, aunque clásico, es una entidad poco conocida que se transmite hereditariamente como un rasgo autonómico dominante caracterizado por pólipos intestinales hamartomatosos, depósitos mucocutáneos de melanina, y un elevado riesgo de cáncer. En este artículo presentamos el caso de un joven de 18 años, sin antecedentes familiares del síndrome, que fue tratado de urgencia por obstrucción intestinal. Le fue practicada una enterectomía que dio origen a un síndrome de intestino corto, que condujo aparentemente a caries rampante. Dos años después el paciente perdió todos sus dientes y actualmente usa dentaduras. El diagnóstico temprano del síndrome puede ser realizado por el dentista antes de la obstrucción intestinal para que el tratamiento quirúrgico sea conservador y así evitar el síndrome de intestino corto y sus consecuencias.

Peutz-Jeghers syndrome, although a classic, but not widely known entity, is a hereditary condition, with an autosomal dominant condition characterized by intestinal hamartomatous polyps, mucocutaneous melanin depositis, and increased risk of cancer. This paper reports an 18-year-old patient with no family history of the disease, who underwent surgery for treatment of an intestinal occlusion. Enterectomy was performed and the outcome was short bowel syndrome and rampant caries. Two years later the patient lost all his teeth and actually uses dentures. Early diagnosis can be done by dentist prior to intestinal occlusion for the conservative surgical treatment that prevents small short bowel syndrome and its consequences.

Diagnóstico de síndrome de Peutz-Jeghers / The diagnosis of Peutz-Jeghers syndrome

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