The intestinal polyps may result in obstruction and intussusception, which may predispose to chronic lower GI bleeding and anemia. These benign polyps are called hamartomas and usually begin to develop during the first decade of life; they fully manifest in childhood and early adulthood. These polyps can occur within any part of the GI tract, however, the small intestine is the most common site of occurrence. In rare cases, the polyps may occur in the urinary tract and lungs.

Within the first 30 years of life, patients with Peutz-Jeghers syndrome present with lower GI bleeding, abdominal pain, intestinal obstruction, intussusception, and anemia as a result of the polyps [8] [11]. Intussusception occurs in up to 50% of patients with this syndrome [12]. Colicky abdominal pain is the primary presentation of PJS, occurring as a symptom of intussusception [13]. Less frequent symptoms include melena and hematemesis [14].

Dermatological features of PJS include hyperpigmented macules on the skin and mucous membranes. These lesions are dark-blue to dark-brown in color and are seen around the mouth, nose, eyes, fingers, palms and soles of the feet, perianal region, and the intestinal mucosa. The characteristic hyperpigmentation of these lesions occurs in approximately 95% of patients and results from an excessive deposition of melanin pigment in the dermal macrophages. All the lesions, except for the perioral and buccal lesions, usually resolve spontaneously by puberty.

Furthermore, PJS presents a huge risk of malignancy including gynecological and andrological tumors in females and males respectively. Therefore, women who have developed ovarian tumors from this syndrome may present with menstrual irregularities or early menarche. Testicular tumors in affected men would result in gynecomastia.

• Pain

  Intussusception, colicky abdominal pain, and bleeding are the usual symptoms. [accessanesthesiology.mhmedical.com]

  Peutz-jeghers syndrome in a girl with chronic abdominal pain. Pak J Med Sci 2008;24(4):627-8. 1. Javad Ghoroubi, Assistant Prof. of Pediatric Surgery 2. Farid Imanzadeh, Associate Prof. of Pediatric Gastroenterology 3. [pjms.com.pk]

  Snapshot A 14-year-old girl presents to the emergency room with acute abdominal pain and constipation. An ultrasound reveals a “target sign”, suggesting intussusception. A CT scan confirms this diagnosis. [step1.medbullets.com]

  Correlation of pathologic findings The largest polyp measuring 3.5 cm in size was the lead point causing telescoping of jejunum into ileum, thereby causing abdominal pain, guarding and currant jelly stools. [casesjournal.biomedcentral.com]

  The majority of children and adolescents with PJS present with crampy pain, vomiting, and bowel obstruction resulting in emergency surgery to correct the intussusception. [nationwidechildrens.org]

• Weight Loss

  Other clinical features include bleeding, diarrhea or constipation, abdominal pain, and weight loss. [accessanesthesiology.mhmedical.com]

  Symptoms include weight loss, abdominal pain, and jaundice... read more, stomach Stomach Cancer Etiology of stomach cancer is multifactorial, but Helicobacter pylori plays a significant role. [msdmanuals.com]

  Smoke cessation, regular exercise, weight loss, and reduced alcohol use may help to prevent cancer complications of this disease. [symptoma.com]

  Although the polyps are usually non-cancerous, they can cause health problems such as: Diarrhoea, Constipation, Bloating, Weight loss, Rectal bleeding, Abdominal pain, Anaemia (low levels of iron), Intussusception where the intestine folds itself and [pancreaticcanceraction.org]

  Denied change in bowel habits, abdominal or anal pain, adynamia or weight loss. Also denied family history of intestinal disease, but the patient did not keep in touch with family members. [scielo.br]

• Surgical Procedure

  […] way of surgical procedure. [syndromespedia.com]

  In case of complications leading to a surgical procedure, we performed intraoperative enteroscopy to remove all large polyps. [journals.lww.com]

  Surgical procedures should be performed by a surgeon with experience in thyroid surgery in children and with the management of medullary thyroid cancer. [cancer.net]

  The combination of the surgical and enteroscopic methods creates the possibility of preventing small bowel syndrome, as well as mapping the location of the numerous polyps and treating them during the same procedure. [scielo.br]

  In other cases, physicians may initially recommend other surgical procedures, such as a technique in which the large intestine is removed (colectomy) and the small intestine and the anus are surgically joined (ileoanal anastomosis). [rarediseases.org]

• Abdominal Pain

  Intussusception, colicky abdominal pain, and bleeding are the usual symptoms. [accessanesthesiology.mhmedical.com]

  DISSCUSSION About one third of patient with Peutz Jeghers syndorm will have symptoms like crampy abdominal pain, abdominal mass due to intussusception signs of intestinal obstruction in their first decade of life and 50 to 60% present before the age of [pjms.com.pk]

  Snapshot A 14-year-old girl presents to the emergency room with acute abdominal pain and constipation. An ultrasound reveals a “target sign”, suggesting intussusception. A CT scan confirms this diagnosis. [step1.medbullets.com]

  pain and blood loss in stools. [casesjournal.biomedcentral.com]

  A 21-year-old woman presented with acute onset of upper abdominal pain. [ncbi.nlm.nih.gov]

• Vomiting

  Images in Clinical Medicine Elizabeth Cureton, M.D., and Sunghoon Kim, M.D. 1 Citing Article A previously healthy 12-year-old boy presented with abdominal pain, vomiting, and abdominal distention of 3 days' duration. [nejm.org]

  The majority of children and adolescents with PJS present with crampy pain, vomiting, and bowel obstruction resulting in emergency surgery to correct the intussusception. [nationwidechildrens.org]

  We report the case of a 20-year-old woman diagnosed with PJS, as she suffered from 4-day nausea and vomiting with acute abdominal pain, and clinically manifested acute pancreatitis, splenomegaly and duodenojejunal intussusceptions secondary to a huge [ncbi.nlm.nih.gov]

  […] bluish-gray pigmented spots on the lips, gums, inner lining of the mouth, and skin Clubbed fingers or toes Cramping pain in the belly area Dark freckles on and around the lips of a newborn Blood in the stool that can be seen with the naked eye (occasionally) Vomiting [intelligentdental.com]

• Constipation

  Snapshot A 14-year-old girl presents to the emergency room with acute abdominal pain and constipation. An ultrasound reveals a “target sign”, suggesting intussusception. A CT scan confirms this diagnosis. [step1.medbullets.com]

  Other clinical features include bleeding, diarrhea or constipation, abdominal pain, and weight loss. [accessanesthesiology.mhmedical.com]

  For other symptoms, such as diarrhoea and constipation, medication can be given to help relieve symptoms. Discuss treatment options with your doctor or medical professional. [pancreaticcanceraction.org]

  A 19-year-old woman who was 34 weeks pregnant presented at The Affiliated Hospital of Southwest Medical University (Luzhou, China) in September, 2018, with a 3-day history of abdominal pain, accompanied by vomiting and constipation. [thelancet.com]

  There is alternating diarrhea and intestinal constipation. The symptoms of intestinal obstruction and/or hemorrage start to appear at 20 and 30 years of age. (Bronner, 2003 ). [institutodosorriso.com.br]

• Intestinal Disease

  […] title=Category:Peutz–Jeghers_syndrome&oldid=354079710 " Categorie : Autosomal dominant diseases and disorders Diseases and disorders of the digestive system Deficiencies of intracellular signaling peptides and proteins Diseases and disorders named after [commons.wikimedia.org]

  Also denied family history of intestinal disease, but the patient did not keep in touch with family members. [scielo.br]

  + INTESTINAL DISEASES a schema:Thing ; schema:name " GASTROINTESTINAL DISEASES + INTESTINAL DISEASES " ;. http://experiment.worldcat.org/entity/work/data/3855998813#Thing/gastrointestinal_tract_anatomy_and_physiology > # GASTROINTESTINAL TRACT (ANATOMY [worldcat.org]

  Use of device-assisted enteroscopy in small bowel disease: an expert consensus statement by the Korean Association for the Study of Intestinal Diseases. [pubmed.ncbi.nlm.nih.gov]

  Pathologic Processes Neoplastic Syndromes, Hereditary Neoplasms Intestinal Polyposis Intestinal Diseases Gastrointestinal Diseases Digestive System Diseases Genetic Diseases, Inborn Lentigo Melanosis Hyperpigmentation Pigmentation Disorders Skin Diseases [clinicaltrials.gov]

• Abdominal Cramps

  Peutz-Jeghers syndrome Peutz-Jeghers syndrome Surgery An AD condition characterized by brownish perioral and oral macules developed in infancy, accompanied by premalignant intestinal polyps causing abdominal cramping, intussusception, chronic bleeding [medical-dictionary.thefreedictionary.com]

  Abdominal cramping pain. Recurrent intestinal obstruction. Gross or microscopic malena or bloodstaining of feces. Vomiting. [news-medical.net]

  At the age of seven, the boy got paroxysmal abdominal cramps after meal and fresh blood came out with stool. He was soon sent to the local hospital, and colonoscopy revealed multiple colon polyps. [bmcgastroenterol.biomedcentral.com]

  The first clinical symptoms occurred during childhood or adolescence and included hyperpigmentation and gastrointestinal symptoms such as abdominal pain, abdominal cramps, hematochezia, and diarrhea. [ojrd.biomedcentral.com]

• Oral Pigmentation

  Early onset of disease is often characterized by mucocutaneous pigmentation and intussusception due to GI polyps in childhood. A girl with a positive family history grew oral pigmentation at 1 and got intussusception by small bowel hamartomas at 5. [ncbi.nlm.nih.gov]

  The oral pigmentations are the first on the body to appear, and thus play an important part in early diagnosis. Intraorally, they are most frequently seen on the gingiva, hard palate and inside of the cheek. [intelligentdental.com]

  In the past 7 years the patient was examined for oral pigmentations and intestinal polyps every year. We did not observe any significant change in oral pigmentations during these years. [hindawi.com]

  The role of STK 11 gene testing in individuals with oral pigmentation. Australas J Dermatol. 2017 May;58(2):135-138. doi: 10.1111/ajd.12443. Epub 2016 Jan 14. PubMed PMID: 26768676. PubMed. [dermnetnz.org]

• Freckles

  In some individuals, the freckles fade with age, however the disorder can be present in the absence of skin pigmentation. [nationwidechildrens.org]

  These freckles are harmless and begin to appear very early in childhood and then may disappear into adulthood. [cancer.nsw.gov.au]

  Nostrils, hands/fingers/toes, anus and vulva may also show freckling. Polyps The histology of PJ polyps is characteristic and diagnostic, consisting of a branched or frond-like pattern in the stroma, termed arborization. [insight-group.org]

  Since these freckles may fade as one gets older, patients may forget that they had these freckles as a child and may be misdiagnosed when they develop bowel symptoms. There is no association between the number of freckles and the severity of PJS. [zanecohencentre.com]

• Hyperpigmentation

  Other syndromes associated with melanotic pigmented macules can be difficult to differentiate from the hyperpigmentation seen in PJS. [clinicaladvisor.com]

  Introduction Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by multiple hamartomatous polyps in the gastrointestinal tract, generally associated with mucocutaneous hyperpigmentation. 1 and 2 This is a rare condition, with [scielo.br]

  Introduction Inherited syndrome with multiple, nonmalignant hamartomatous polyps in GI tract mucocutaneous hyperpigmentation Genetics autosomal dominant mutation in STK11 serine threonine kinase tumor suppressor gene Associated conditions ↑ risk for multiple [step1.medbullets.com]

  For individuals with a first-degree relative with PJS, presence of mucocutaneous hyperpigmentation is sufficient for presumptive diagnosis. [clinicaltrials.gov]

• Metrorrhagia

  A case of a 58-year-old patient with Peutz-Jeghers syndrome and history of multiple malignancies (thyroid, breast and colon cancer) who presented with metrorrhagia is reported. The dilatation and curettage revealed endometrial adenocarcinoma. [ncbi.nlm.nih.gov]

Diagnosis of Peutz-Jeghers syndrome is mostly clinical and is based on history, physical examination, and histologic findings. The presence of at least one of the following criteria is diagnostic of PJS.

1. At least two Peutz-Jeghers polyps confirmed by histology.
2. Multiple Peutz-Jeghers polyps with a family history of the syndrome.
3. Characteristic mucocutaneous lesions and a positive family history of PJS.
4. Multiple typical polyps with characteristic hyperpigmented lesions in skin and mucous membranes.

The diagnosis is confirmed by molecular testing of the STK11 gene. It reveals the mutation in 80-94% of patients. Genetic testing and cancer screening for first-degree relatives may be considered.

Capsule endoscopy and barium enterography are safe and sensitive procedures employed to identify the polyps in children with PJS [15]. In adults, an MRI enterography is a superior alternative [16].

Cancer screening with imaging studies and endoscopy is indicated in all patients with PJS. Abdominal computed tomography (CT) scan and magnetic resonance imaging (MRI) are useful for the detection of intraabdominal malignancies.

• Small Bowel Mass

  Double balloon enteroscopy detects small bowel mass lesions missed by capsule endoscopy. Dig Dis Sci 2008; 53:2140–2143. 19. Soares J, Lopes L, Vilas Boas G, et al. [journals.lww.com]

• Polyps

  Polyps found in other polyposis syndromes may share features found in the polyps of PJS. Cowden's syndrome can have a variety of hamartomatous polyps such as juvenile and hyerplastic polyps. [clinicaladvisor.com]

  • Polyps- sessile, peductulated or lobulated. • Can be single or multiple. • Size 0.1 cm to more than 5 cm. 6. [slideshare.net]

  A clinical diagnosis can be made following histopathological confirmation of typical Peutz-Jeghers syndrome morphology in 2 or more intestinal polyps or after any number of polyps or hyperpigmented macules (in a characteristic location) with a positive [radiopaedia.org]

  Hamartomatous polyps in the gastrointestinal tract. These are benign polyps with an extraordinarily low potential for malignancy. Having 2 of the 3 listed clinical criteria indicates a positive diagnosis. [intelligentdental.com]

Surgery is the mainstay of treatment of Peutz-Jeghers syndrome. Surgery, which may involve laparotomy or laparoscopy, is indicated for small intestinal obstruction, intussusception, and chronic lower GI bleeding. However, routine endoscopic monitoring with resection of the polyps may reduce the frequency of some of the complications in young patients and detect malignancies in older patients. However, some studies have not shown any benefit of surveillance in preventing complications of the disease.

Two basic procedures have been used as diagnostic and therapeutic tools for PJS. These include double balloon enteroscopy (DBE) and intra-operative enteroscopy (IOE). DBE is useful for both diagnostic and therapeutic interventions of the jejunal and ileal lesions. IOE employs both laparotomy or laparoscopy and endoscopy to visualize the full length of the small intestine and excise the polyps [17]. IOE is considered more effective than DBE.

Cancer screening should be instituted as early as possible with periodic imaging studies and endoscopy. Affected women should have early mammography and regular breast examination. Additionally, a testicular examination is recommended in male patients.

Peutz-Jeghers syndrome increases the risk of gastrointestinal malignancies such as pancreatic, colorectal, and small intestinal cancers which develop in nearly 50% of the cases [10]. Furthermore, PJS also increases the risk of non-GI malignancies including breast, uterus, lung cancer and ovarian cancer.

PJS places women at an increased risk of certain gynecologic malignancies, including sex cord tumors with annular tubules (SCTAT) and adenoma malignum, an uncommon form of cervical cancer. In men, PJS increases the risk of urologic malignancies and particularly sertoli cell tumors.

In 66-94% of cases, Peutz-Jeghers syndrome is caused by a mutation of the STK11/LKB1 (seine threonine kinase 11), a tumor suppressor gene which is located on band 19p13.3. This mutation may be inherited from a parent or may occur de novo in the affected individual. In approximately 50% of cases, it is inherited from an affected parent. There is a 50% chance of passing the mutated gene to the offspring in each pregnancy.

The intestinal polyps in Peutz-Jeghers syndrome begin to appear in adolescents and young adults with the median age of presentation being 11-13 years [1]. Furthermore, symptoms begin to present within the first 10 years of life in over 30% of the patients and up to 50% of the patients have experienced the characteristic features of the disease by age 20 [2] [3] [4].

There are varying results of studies on the epidemiology of PJS. However, an estimated 1 in 100,000 individuals is the probable prevalence rate [3]. PJS has no sexual predilections or ethnic preferences.

The STK11 gene is a tumor suppressor gene such that, when overexpressed, halts the cell growth cycle at the G1 phase. Furthermore, when the unaffected allele is somatically inactivated, it results in GI polyps and malignancies notable in Peutz-Jeghers syndrome.

Certain other genes contribute to the etiogenesis of PJS. These include MYH11 gene, LKB1 gene, and genes which encode for MARK protein and homologs of Par 1 polarity protein.

The pathologic hallmark of PJS is an overgrowth of the cells in the GI tract. Initially, This overgrowth is not associated with a neoplastic predisposition [5] [6]. The hamartomatous polyps consist of normal cells with distorted morphology [7] [8]. The polyps in PJS may be differentiated from other hamartomatous polyps due to their characteristic core of smooth muscle that branches out throughout the polyp. This unique feature is best demonstrated in small intestine polyps [9]. Histopathology, therefore, is the most reliable tool to differentiate this syndrome from other hamartomatous polyposis syndromes.

Genetic testing is recommended for individuals with a family history of Peutz-Jeghers syndrome. This is essential for an early diagnosis and the prevention of complications. Likewise, cancer screening and surveillance are necessary for patients with the disease. Surveillance should begin at puberty and be carried out at intervals of two years [18].

In some cases, prophylactic surgery may be considered for patients at risk of certain cancers. Prophylactic mastectomy, hysterectomy or bilateral salpingo-oophorectomy may be considered in high-risk female patients who are older than 35 years, or who have completed childbearing.

Lifestyle modifications are essential and include weight loss, smoke cessation, and reduction in alcohol use. They may reduce the incidence of GI cancers complicating Peutz-Jeghers syndrome. However, no study has shown that these practices reduce the risk of malignant transformation.

Peutz-Jeghers syndrome (PJS) is a genetic disease with an autosomal dominant pattern of inheritance. It is characterized by multiple benign polyps in the gastrointestinal tract and typical pigmented mucocutaneous lesions. PJS is considered a premalignant disease.

The disease is caused by a mutation in the STK11/LKB1 gene, a tumor suppressor gene, on the long arm of chromosome 19. The mutation may be inherited from a parent or may arise as a spontaneous occurrence in the affected individual.

PJS presents with multiple hamartomatous, polyps which may occur anywhere in the lower GI tract, but most commonly affect the small intestine. Occasionally, the polyps may occur in the bladder, respiratory tract, ureters, and gallbladder. The characteristic mucocutaneous lesions are pigmented macules which occur in the perioral and perianal skin, fingers, palms, and soles of the feet.

This disease presents with colicky abdominal pain, vomiting, and lower GI bleeding. These symptoms are often the results of complications of the polyps including intussusception and intestinal obstruction.

Diagnosis is made on clinical grounds and is based on the history of symptoms, findings of the characteristic mucocutaneous lesions, a family history of the syndrome, and the presence of the hamartomatous polyps on histology. The diagnosis is subsequently confirmed by genetic testing, which reveals the mutation in 80-94% of patients. Genetic testing is also recommended for first-degree relatives of patients with the disease.

Treatment of the disease involves surgical resection of the polyps and surgical correction of complications that are surgically repairable. In certain high-risk patients, prophylactic mastectomy, bilateral salpingo-oophorectomy, or hysterectomy may be beneficial in order to prevent the respective cancers.

Peutz-Jeghers syndrome (PJS) is a genetic disorder, namely a disease resulting from a mutation or abnormality in a particular gene. All cells in the body have a material called chromosomes, which are paired, making up 23 pairs of chromosomes in each cell. The chromosomes contain the genes, which code for all structures and functions of the tissues in the body. An abnormality in these genes is called a mutation and it results in abnormal structure or function of the affected tissue. In PJS, the mutated gene may be inherited from a parent or occur spontaneously in the affected individual.

The gene which is damaged in PJS is on the 19th chromosomal pair. However, the mutation affecting at least one of the chromosomes in the pair is sufficient for the disease to manifest. This is called an autosomal dominant pattern of inheritance.

This disease typically begins to present during adolescence and young adults usually around the age of 12. By age 30, the disease has completely manifested. It presents with multiple benign outgrowths called polyps in the stomach, small intestine, and large intestine. These polyps may cause obstruction of the intestine, presenting with symptoms such as chronic vomiting, constipation, and bloating. The polyps may also cause telescoping of one segment of the small bowel into another, a condition called intussusception. Sequel to these possible complications, the patient may present with severe abdominal pain that waxes and wanes, bloody stools, and anemia.

Another common symptom of PJS is the presence of dark-brown or dark-blue rashes on the skin around the mouth, nose, eyes, in the soles of the feet, palms, and sometimes in the lining of the intestine. This disease is serious because of its ability to progress to cancer. Cancer of the stomach and intestines are very common. In a few cases, it may lead to cancers of the uterus, ovaries, and breasts in women, and cancer of the testicles in men.

Doctors can achieve a diagnosis by examining the skin for the typical rashes, asking questions about any family member with the disease, and detecting the polyps in the gut by a procedure called endoscopy and biopsy. PJS is then confirmed by testing the involved gene to detect the causative abnormality. This genetic testing is also recommended for relatives and siblings of anyone with the disease to ensure early diagnosis and management.

Generally, PJS is treated by surgically removing the polyps and surgically correcting any complication that can be repaired. Regular screening and examination are necessary once a diagnosis is made, to detect the development of cancers or other complications.

In some cases, high-risk women may be candidates for surgical removal of the breasts, uterus, or ovaries as a way of preventing cancers of these organs. Smoke cessation, regular exercise, weight loss, and reduced alcohol use may help to prevent cancer complications of this disease.

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