Contrast-Enhanced Ultrasound Defines Vascularization Pattern of Hamartomatous Colonic Polyps in Peutz-Jeghers Syndrome

The hamartomatous polyps in Peutz-Jeghers syndrome may have malignant potential. To differentiate between hamartomatous and adenomas polyps, vascular characterization can be assessed using noninvasive procedures, such as contrast-enhanced ultrasound (CEUS). The neo-angiogenic characteristics of colorectal adenomas and carcinomas are expressed as an anarchic vascular pattern observed on CEUS. Using CEUS in a patient with Peutz-Jeghers syndrome, we describe for the first time the vascularization of a hamartomatous colonic polyp that exhibits a hierarchy branching pattern.

A Case of Crohn's Disease Accompanied by Peutz-Jeghers Syndrome / 대한소화기학회지

Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by multiple gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Peutz-Jeghers syndrome has an incidence of approximately 1 in 25,000 to 300,000 births. Crohn's disease is a chronic inflammatory bowel disease that typically manifests as regional enteritis with its incidence ranging from 3.1 to 14.6 cases per 100,000 person-years in North America. Herein, we report a case of a 30-year-old male patient who had both Peutz-Jeghers syndrome and Crohn's disease. We believe that this is the first case in Korea and the second report in the English literatures on Peutz-Jeghers syndrome coincidentally accompanied by Crohn's disease.

Two cases of Peutz-Jeghers syndrome presenting as bowel obstruction from intussusception

Two unusual cases of small intestinal intussusception presenting as bowel obstruction are presented. They both had freckle-like pigmentation of the perioral area, palms and soles of the feet with intestinal polyps which acted as lead points in the intussusception. Peutz-Jeghers syndrome was diagnosed. This report highlights the high risk of cancer of the intestines and extra-intestinal sites associated with this interesting but rare condition.

Síndrome Peutz Jeghers y obstrucción intestinal: caso clínico / Peutz Jeghers syndrome and bowel obstruction in children: a clinical case

Peutz-Jeghers Syndrome (PJS) is an infrequent genetic disorder characterized by intestinal hamartomas and characteristic mucocutaneous pigmentation. It is frequently the cause of intususception, intentinal obstruction and/or intestinal bleeding. An 8 y.o. patient is described who presented with bowel obstruction and a history of familiar PJS polyposis. Exploratory laparotomy showed that the obstruction was due to a mass of sizable polyps which obstructed the intestinal lumen in the jejunum and colon. Surgical treatment consisted of double intestinal resection and termino-terminal anastomosis. This procedure resolved the acute intestinal obstruction and saved the patient's life.

El síndrome de Peutz-Jeghers (SPJ) es una enfermedad genética poco frecuente, caracterizada por la presencia de pólipos hamartomatosos intestinales y pigmentaciones mucocutáneas características. Con frecuencia es causal de intususcepción, obstrucción intestinal y/o hemorragias digestivas. Se describe el caso clínico de una paciente de 8 años que tenía el diagnóstico de poliposis familiar de Peutz Jeghers y que presentó obstrucción intestinal. En la laparotomía exploradora se constató que la obstrucción intestinal era secundaria a una masa de grandes pólipos sésiles, que obstruían el lumen intestinal en yeyuno y colon. El tratamiento quirúrgico consistió en doble resección intestinal y anastomosis termino-terminal. Este procedimiento quirúrgico constituyó una solución al cuadro agudo de obstrucción intestinal de la paciente, siendo de vital importancia para mantener su sobrevida.

A Case of Peutz-Jeghers Syndrome with Intraductal Papillary Mucinous Carcinoma of Pancreas / 대한소화기학회지

Peutz-Jeghers syndrome (PJS), which is characterized by multiple hamartomatous polyps of the gastrointestinal tract and mucocutaneous pigmentation, is a rare autosomal dominant disease. This syndrome is often represented as a surgical emergency with complications of the polyps such as intussusception, small bowel obstruction, bleeding, and volvulus. In particular, many studies have reported that patients with this syndrome have a high risk of gastrointestinal or extragastrointestinal malignancy including gastric, duodenal, jejunal, ileal, and colonic carcinoma as well as malignancies involving other organs such as the gallbladder, biliary tract, pancreas, tonsils, breast, and reproductive system. However, there are few reported cases of an association of this syndrome with extraintestinal malignancy. In addition to that, there is no reported case of this syndrome with malignant tumor or intraductal papillary mucinous tumor of pancreas in Korea. We experienced a case of PJS accompanying intraductal papillary mucinous carcinoma of the pancreas, therefore we report this case with literatures reviewed.

A Case of Peutz-Jeghers Syndrome with Intraductal Papillary Mucinous Carcinoma of Pancreas / 대한소화기학회지

Peutz-Jeghers syndrome (PJS), which is characterized by multiple hamartomatous polyps of the gastrointestinal tract and mucocutaneous pigmentation, is a rare autosomal dominant disease. This syndrome is often represented as a surgical emergency with complications of the polyps such as intussusception, small bowel obstruction, bleeding, and volvulus. In particular, many studies have reported that patients with this syndrome have a high risk of gastrointestinal or extragastrointestinal malignancy including gastric, duodenal, jejunal, ileal, and colonic carcinoma as well as malignancies involving other organs such as the gallbladder, biliary tract, pancreas, tonsils, breast, and reproductive system. However, there are few reported cases of an association of this syndrome with extraintestinal malignancy. In addition to that, there is no reported case of this syndrome with malignant tumor or intraductal papillary mucinous tumor of pancreas in Korea. We experienced a case of PJS accompanying intraductal papillary mucinous carcinoma of the pancreas, therefore we report this case with literatures reviewed.

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.

Peutz-jeghers syndrome and colon cancer in a 10-year-old girl: implications for when and how to start screening?

The Peutz-Jeghers syndrome (PJS) is characterized by hamartomatous polyposis of the gastro-intestinal (GI) tract, with mucocutaneous pigmentation. We have experienced a case of a 10-year-old girl who presented with PJS, intussusception, colonic perforation and colonic adenocarcinoma. Finally, this case developed airway obstruction from the mediastinal mass. In order to prevent cancer and short bowel syndrome, aggressive screening is recommended.

Peutz-Jeghers syndrome in a girl with chronic abdominal pain

It is a report of a seven years old girl with Peutz-Jeghers syndrome. Mode of presentation, various investigations, pattern of family history and management aspect are reported

Peutz-Jegher's syndrome with ovarian serous cystadenoma: an unusual association.

A 29 year female presented with epigastric pain with bilious vomiting since 1 1/2 years. This patient was diagnosed as a case of Peutz-Jegher's syndrome based on evidence of the characteristic mucocutaneous pigmentation which was present since birth and intestinal hamartomatous polyposis. There was an associated unilateral ovarian cystadenoma which is a rare association and which highlights the importance of a gynaecologic examination in female patients with Peutz-Jegher's syndrome.

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.

Small intestinal adenocarcinoma in Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome (PJS) is characterized by intestinal hamartomatous polyposis (usually affecting the jejunum) and mucocutaneous melanin spots. Though malignant changes are not common, PJS can predispose to carcinoma in the GI tract and elsewhere. We report a 25-year-old man with PJS who developed small intestinal adenocarcinoma and presented with small bowel obstruction due to jejuno-ileal intussusception.

Peutz-Jeghers Syndrome with Multiple Genital Tract Tumors and Breast Cancer: A Case Report with a Review of Literatures

We report here on the multiple genital tract neoplasms in a 41-yr-old Korean woman with Peutz-Jeghers Syndrome (PJS). The patient presented with lower abdominal pain. Her previous medical history was PJS and breast cancer. Pelvic ultrasound showed a multilocular cyst at the right adnexal region, diagnosed as bilateral ovarian mucinous borderline tumors. An ovarian sex cord tumor with annular tubules was incidentally diagnosed together with a minimal deviation adenocarcinoma of the uterine cervix and mucinous metaplasia of both the Fallopian tubal mucosa and the endometrium. Although the cases of multiple genital tract tumors with PJS has rarely been reported, the present case appears to be the first in Korea in which the PJS syndrome was complicated by multiple genital tract tumors and infiltrating carcinoma of the breast. The clinical significance of the multiple genital tract tumors and breast cancer associated with PJS is reviewed.

Manifestaciones cutáneas de las enfermedades gastrointestinales: segunda parte / Cutaneous manifestations of gastrointestinal diseases: second part

En la segunda parte de este artículo de revisión de las manifestaciones cutáneas de las enfermedades gastrointestinales, se discutirán algunas de las genodermatosis con potencial maligno, que presentan manifestaciones digestivas y dermatológicas y los síndromes asociados a hemorragia gastrointestinal.

Síndrome de Peutz-jeghers: relato de caso / Peutz-Jeghers: a case report

A síndrome de Peutz-Jeghers é uma doença autossômica dominante caracterizada por pólipos hamartomatosos do trato gastrointestinal associados à hiperpigmentação mucocutânea. Os pólipos são responsáveis pelas principais complicações da síndrome: hemorragia digestiva e obstrução intestinal. Os autores relatam o caso de uma paciente com síndrome de Peutz-jeghers apresentando um quadro de dor abdominal

Intussuscepção, oclusão e perfuração jejunal na síndrome de Peutz-Jeghers: relato de caso / Jejunal intussusception, occlusion and perforation in the Peutz-Jeghers syndrome: case report

Racional - a síndrome de Peutz-Jeghers é um distúrbio hereditário autossômico dominante caracterizado por pólipos hamartomatoses intestinais associados a máculas melanocíticas cutaneomucosas e que frequentemente requerem intervenções cirúrgicas para tratamento de suas principais complicações (oclusão, perfuração e sangramento). Relato de caso - adolescente masculino de 17 anos com história anterior de intussuscepção, episódios repetidos de sub-oclusão intestinal e emagrecimento de aproximadamente 10 kg nos últimos quatro meses / Background - the Peutz-Jegher's sndrome is an autosomal dominant inherited disorder characterized by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. This syndrome usually requires surgical treatment for its complications. Case report - a 17 years old patient with previous history of intussusception, intestinal sub-oclusion and weight lost of 10 kg in the last four months was admitted to the hospital...