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.

Síndrome de Bannayan-Riley-Rubalcaba en pediatría / Bannayan-Riley-Rubalcaba syndrome in pediatrics

Resumen Introducción: El síndrome de Bannayan-Riley-Ruvalcaba (SBRR) forma parte de la enfermedad de PTEN tumor-hamartoma, que comprende los síndromes de Cowden, Proteus y similar a Proteus, los cuales presentan un espectro de lesiones cutáneas, mucosas, de mama, tiroides y tracto gastrointestinal, así como polipomatosis hereditaria autosómica dominante. El SBRR se caracteriza por macrocefalia, lipomatosis, hemangiomatosis, pólipos intestinales, lentiginosis genital y discapacidad intelectual. El diagnóstico clínico y de variantes patogénicas en el gen PTEN, detectables en el 60% de los afectados, brinda la oportunidad de un manejo adecuado y de asesoramiento genético. Caso clínico: Se reporta el caso de un paciente en edad escolar que fue enviado a valoración inicial a dermatología por presentar antecedente de macrocefalia al nacimiento, lentiginosis genital, retraso en el desarrollo psicomotor y posteriormente rectorragia secundaria a polipomatosis intestinal. Se le realizó el diagnóstico clínico y molecular de SBRR. Conclusiones: El SBRR es poco frecuente, lo que puede retrasar el diagnóstico para los pacientes y los familiares en riesgo, por lo que es importante conocer sus características clínicas en el paciente pediátrico para lograr un diagnóstico y un manejo oportunos.

Abstract Background: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is part of the PTEN tumor-hamartoma disease, which includes the Cowden, Proteus and Proteus-like syndromes, which present a spectrum of skin, mucosal, breast, thyroid, and gastrointestinal tract lesions, as well as autosomal dominant hereditary polypomatosis. BRRS is characterized by macrocephaly, lipomatosis, hemangiomatosis, intestinal polyps, genital lentiginosis, and intellectual disability. Clinical diagnosis and diagnosis of pathogenic variants in the PTEN gene, detectable in 60% of those affected, provides the opportunity for appropriate management and genetic counseling. Case report: We report the case of a school-age patient who was sent to an initial dermatological evaluation for presenting a history of macrocephaly at birth, genital lentiginosis, delayed psychomotor development and later rectal bleeding secondary to intestinal polypomatosis. A clinical and molecular diagnosis of BRRS was carried out. Conclusions: BRRS is rare, which can delay the diagnosis for patients and relatives at risk, so it is important to know its clinical characteristics in pediatric patients to achieve a timely diagnosis and management.

Register and clinical follow-up of patients with Peutz-Jeghers syndrome in Valencia. / Registro y seguimiento clínico de pacientes con síndrome de Peutz Jeghers en Valencia.

INTRODUCTION AND OBJECTIVES: Peutz-Jeghers syndrome is a rare autosomal dominant inherited disease caused by a germline mutation of the STK11/LKB1 gene, located on chromosome 19p13.3. It is characterized by mucocutaneous hyperpigmentation, hamartomatous polyposis, and predisposition to cancer. The aim of the present study was to identify and register patients with Peutz-Jeghers syndrome, describe the disease, and estimate its prevalence in Valencia (Spain). MATERIALS AND METHODS: A print-out of the clinical histories from 10 hospitals was obtained utilizing the ICD-9 code 759.6 from the Minimum Basic Data Set of Hospital Admissions of the Spanish Ministry of Health and Consumer Affairs. RESULTS: From a total of 405 clinical histories found, 15 (9 males and 6 females) fit the diagnostic criteria of Peutz-Jeghers syndrome. Mean age at diagnosis was 13.8 years and mean age at death was 54.2 years. Four males died, all from cancer. The estimated disease prevalence was 0.4/100,000 inhabitants. All the patients presented with anemia and polyps in the small bowel (80% in the duodenum, 66.7% in the ileum, and 40% in the jejunum), 93.3% underwent urgent surgical intervention and presented with intestinal invagination, and 40% of the patients developed cancer at a mean age of 48.5 years. CONCLUSION: The present study is the first register of patients with Peutz-Jeghers syndrome in Valencia, Spain. The ICD-9 code is nonspecific for rare diseases. The duodenum was the most frequent location for polyps and the majority of cases presented with intestinal invagination, bowel obstruction, and urgent surgical intervention. A large percentage of patients presented with cancer. It would be of interest to review and evaluate the existing surveillance protocols in the Valencian Community.

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-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)

Intususcepción intestinal en adultos por lesiones benignas / Intestinal intussusception due to benign lesions in adults

La intususcepción intestinal en una patología infrecuente en el adulto. En este documento describimos dos casos de presentación quirúrgica aguda caracterizada por dolor abdominal, masa y síntomas obstructivos; uno de ellos en una mujer de 18 años con una intususcepción yeyuno-yeyunal secundaria a un pólipo hamartomatoso, y otro, en una mujer de 40 años con un lipoma submucoso del colon descendente que producía intususcepción colocolónica.

Intestinal intussusception in adults occurs infrequently. In this study we describe two cases of acute surgical events characterized by abdominal pain, masses and obstructive symptoms. One of these cases occurred in an 18 year old woman with jejuno-jejunal intussusceptions due to a hamartomatous polyp. The other case was a 40 year woman with a colo-colonic intussusception due to a submucosal lipoma in the descending colon.

Síndrome de Peutz-Jeghers y Obstrucción Intestinal Baja, Reporte de un Caso / Peutz-Jeghers Syndrome and Low Intestinal Obstruction, Report of a Case

El presentamos el caso clínico de un niño de 12 años, que acude al Servicio de Pediatría del Hospital Manuel Ascencio Villarroel, transferido del Centro Pediátrico Albina Rodríguez de Patiño con los posibles diagnósticos de estreñimiento pertinaz, desnutrición de III grado secundario, Síndrome de Peutz-Jeghers probable, anemia microcítica e hipocrómica severa y soplo sistólico en estudio. Si bien el Síndrome de Peutz-Jeghers se presenta en contadas ocasiones en nuestro medio, el diagnóstico diferencial y sus complicaciones deben ser mejor estudiadas para así poder ser tratada de forma más oportuna. Consideramos importante este reporte porque en nuestro medio es una rara causa de abdomen agudo.

The present case report of a child 12 year old boy, who was admitted to the pediatric department of the Hospital Manuel AscencioVillarroel, transferred to the Pediatric Center Albina Rodriguez Patiño with possible diagnoses of persistent constipation, grade III secondary malnutrition, Peutz-Jeghers probable syndrome, severe hypochromic microcytic anemia and systolic murmur in the study.While the Peutz-Jeghers syndrome rarely occurs in our environment, the differential diagnosis and its complications should be better studied so we can be treated in a more timely manner. We consider it important our report because this disease is a rare cause of acute abdomen in our environment.

Síndrome de peuzz - jeghers, a propósito de un caso / Syndrome of Peutz - Jeghers a case especially designed

Se presenta un caso clínico de un niño de 12 años de edad de sexo masculino, Referido al Hospital del Niñ@ Manuel A. Villarroel por un cuadro de obstrucción intestinal baja de 10 días de evolución asociado a manchas melanóticas en piel y mucosas; posterior a múltiples estudios de gabinete y laboratorio, se evidencia masa sólida que ocupa mesogastrio, de 88 mms, que desplaza asas de yeyuno hacia craneal, se le realiza una laparotomía exploratoria, hallándose dos segmentos de intususcepción de intestino delgado y en cada una de ellas, dos masas tumorales en lumen conformando las cabezas de invaginación, se logra la desinvaginación de ambos segmentos resencando dichas masas. El reporte histo-patológico indica Pólipos con núcleos hamartomatosos llegándose al diagnóstico final de Síndrome de Peutz Jeghers.

We present a case report of a 12 years oíd boy refered to HNMAV with 10 days of lower gastroinstestinal obstruction and mococutaneous melanotic spots, after laboratory and immaging studies was found to have an 88 mm solid rnass in mesogastrium wich displace the jejunum superiorly, exploratory laparotomy was made, the surgical findings were: two tumoral masses at the lumen of the small bowel configuring two heads of invagination, both invagiantions were resolved and both masses were removed. The pathology reports as hamartomatous polyps confirming diagnosis of Peutz - Jeghers Syndrome.