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Peutz-Jeghers syndrome is a rare condition characterized by mucocutaneous pigmentation, polyposis and an increased cancer risk at a number of gastrointestinal and extra intestinal organs. We present a patient with a history of gastrointestinal bleeding with no mucocutaneous pigmentation. Upper and lower gastrointestinal endoscopy revealed multiple...
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Citations
... This might be related to the fact that the mucocutaneous pigmentations occurs in over 95% of individuals with the Peutz-Jeghers syndrome and are only missing in rare cases. 19,20 Therefore, the mucocutaneous Table 3. Answers of gastroenterologists on statements about gastrointestinal diseases with possible oral manifestations. ...
Background
Gastrointestinal diseases can have oral manifestations. The aim of this study was to investigate the knowledge of gastroenterologists and dentists about gastrointestinal diseases with oral manifestations and to assess the frequency, extent and content of communication between gastroenterologists and oral healthcare professionals.
Methods
Separate questionnaires were developed and sent to all 523 gastroenterologists and a random selection of 500 dentists in the Netherlands. Both questionnaires contained questions about demographic characteristics of the participants, 10 statements about gastrointestinal diseases with possible oral manifestations and questions about the communication between gastroenterologists and oral healthcare professionals. Additionally, the questionnaire for gastroenterologists contained 9 statements about general dentistry and the questionnaire for dentist had 9 questions about gastrointestinal diseases.
Results
Gastroenterologists answered 47.6% ± 31.9% of the questions correct about gastrointestinal diseases with possible oral manifestations and 57.5% ± 27.9% of the questions correct about general dentistry. Dentists answered 26.6% ± 20.5% of the questions correct about possible oral manifestations of gastrointestinal diseases and 50.3% ± 18.7% of the questions correct about gastrointestinal diseases. Gastroenterologists and dentists valued interdisciplinary consultation as very useful with scores of 4.07 ± 0.70 and 4.67 ± 0.49 on a 5-point Likert scale, respectively, but the frequency of consultation was considered insufficiently with a mean score of 2.88 ± 1.01 and 2.24 ± 1.05 on a 5-point Likert scale, respectively.
Conclusions
This study suggests that the knowledge of gastroenterologists and dentists about gastrointestinal diseases with oral manifestations could be improved. Interdisciplinary consultation was considered valuable for the optimal treatment of their patients but was assessed as insufficient.
... Einnig geta þeir verið með blóð í haegðum, niðurgang og blóðskort. 3,[8][9][10][11] Sepamyndunin er í formi vaxtarvillusepa (hamartomatous polyps) og getur komið fram hvar sem er í meltingarveginum en er algengust í smágirni. 8,12 Separnir geta einnig myndast utan meltingarvegar, til daemis í þvagblöðru, nýrnaskjóðum, lungum og nefkoki. ...
... Further, she had tubular adenomatous polyps in the cecum and rectum warranting close surveillance. Surveillance is an important aspect in these patients which is done by two yearly upper GI endoscopy, two yearly small bowel radiography, colonoscopy every 3 years, ultrasound, CEA, PAP smear, [10] and periodical review with thorough clinical examination to pick up early signs. ...
Peutz–Jeghers syndrome (PJS) is a great mimic. Cutaneous markers should never be overlooked because they give very
significant clinical information about the understanding of the underlying problem. The triad of pigmentation, polyps, and
intussusception should raise the suspicion of PJS. Radiological imaging, contrast studies, and scopy directed biopsies confirm
the diagnosis and help in surveillance. Hamartomatous mucosal polyps with characteristic central core of branching smooth
muscle associated with a mucosa native to the site of origin are pathognomonic of PJS. Dysplasia and adenocarcinoma
can develop within polyps. Almost all cases are linked to a germline mutation in LKB1/STK11 at 19p13.3. Surveillance for
malignancy and genetic counseling is an integral part of management. PJS essentially needs a multidisciplinary empathetic
approach. This case is presented for its classical presentation where radiological imaging played an important role in
diagnosis.
... The pigmented spots will change with age, and lighten or disappear in adolescence. Skin mucosal spots are found in 90% of patients, and no spots are found in very few patients [5,6]. The skin pigmented spots were light in this child and his mother, which were only found in the lip mucosa and fingers, and were not found in other parts. ...
This study reports a case of Peutz-Jeghers syndrome with early onset of gynecomastia, and discusses its clinical characteristics and genetic changes in a family. The clinical characteristics of a child diagnosed with Peutz-Jeghers syndrome in our hospital and his parents were summarized, and related genes were detected in the child and his parents. Furthermore, the therapeutic effect of letrozole was also observed. A five-year-and-three-month-old male patient visited a doctor due to "progressive painless enlargements at bilateral breast for more than two years". The mother of the patient had breast hyperplasia and ovarian cysts, had no hematemesis and hematochezia history, and had two 1-mm pigmented spots on the palm side of the left thumb. The father of the patient revealed no abnormalities. In the child, luteinizing hormone (LH) release peak induced by luteinizing hormone releasing hormone (LHRH) excitation testing was 0.29 U/l, and follicle stimulating hormone (FSH) peak was 0.41 U/l. Karyotype: 46, XY. Gene sequencing revealed a mutation c.658C>T in the serine threonine kinase 11 (STK11) gene in the child and this mother, while the child's father was normal. After one year of oral administration of letrozole, the boy's breasts reduced to stage B2, bone age was 10 years and eight months old, and ΔBA/ΔCA ratio was <1. The patient had early onset of pre-adolescent gynecomastia, had no obvious gastrointestinal symptoms, presented with a few pigmented spots in the skin mucosa, and was diagnosed with Peutz-Jeghers syndrome by genetic testing. Letrozole treatment can effectively control the development of breast and progression of bone age.
... Male-to-female ratio of PJS is 1 : 1. The average age at the time of diagnosis is 23 years in men and 26 years in women [6], but our patient was in sixth decade of her life. ...
... Although most of pigmentations of PJS are located around of mouth cheek, nostril, periorbital, ears, and overall orifices of body [3], these pigmentations of our patient were located intraorally in buccal and labial mucosa. Also Mozaffar et al. reported a PJS without mucocutaneous pigmentation [6]. So PJS may have a variable spectrum of manifestations in mucocutaneous pigmentation. ...
One of the clinicopathological criteria for diagnosing Peutz-Jeghers syndrome (PJS) is mucocutaneous pigmentation. We present a 57-year-old Iranian female patient with diffuse pigmentation in buccal and labial mucosa. The first colonoscopy revealed one 0.5 cm rectal polyp. However surveillance colonoscopies over a 7-year polyp showed over 100 colorectal polyps.
... The polyps can cause anaemia and intestinal obstruction and intussusception. 8 Those polyps are present from chilhood. 9 The relative risk of dying from a gastrointestinal 10 Melanotic spots are the earliest manifestation of PJS, typically appearing in the first year of life. ...
Peutz–Jeghers Syndrome is an autosomal dominant inheritedhamartomatous polyp. We present a case of a 5-year-old young boywith a history of per rectal bleeding and mass protruding out of the anus. Physical examination revealed presence of mucocutaneous pigmented lesions over the tongue, and few hamartomatous polyps protruding out of the rectum suggesting Peutz–Jeghers syndrome. The presence in early infancy of small, well-demarcated and dark-brown to blue-black lentigines on the lips,buccal mucosa and perioral skin, should alert the clinician to Peutz–Jeghers Syndrome.DOI: http://dx.doi.org/10.3126/jpn.v4i8.11597 Journal of Pathology of Nepal; Vol.4,No. 8 (2014) 677-679
