Laser therapy and light sources for labial lentigines in patients with Peutz-Jeghers syndrome.

Labial lentigines associated with Peutz-Jeghers syndrome are challenging and represent a cosmetic problem. Laser and intense-pulsed light sources (IPLS) can be used to treat these macules. However, there are few guidelines regarding the different types of protocols found in the literature. Thus, the purpose of this study was to review the pertinent literature on lasers and IPLS as therapy for labial lentigines in patients with Peutz-Jeghers syndrome. A detailed literature search was conducted in seven databases (Cochrane Library, Embase, Lilacs, PubMed, SciELO, Scopus and Web of Science) to November 2020. Data were extracted and analyzed from selected studies including study design, sample size, participants' skin color, age, and gender, parameters of the laser or IPLS used, interval and total sessions of laser application, results obtained, follow-up time and side effects. Thirteen out of 124 published studies met our eligibility criteria, covering 81 patients. Ten types of lasers and IPLS were used, and most of the sample (n = 57) was treated with Q-switch Alexandrite Laser (QSAL). The total number of sessions ranged from 1 to 12 and the interval between sessions ranged from 2 to 16 weeks. All studies have shown satisfactory results, with no further complications. The follow-up ranged from 2 to 97 months. Laser therapy and IPLS are effective in the treatment of lentigines associated with PJS. Although QSAL was used in 70.3% of the sample, different types of lasers showed comparable satisfactory results.

[A case of pembrolizumab responding to recurrent small bowel mucinous adenocarcinoma with Peutz-Jeghers syndrome].

An advanced small bowel mucinous adenocarcinoma with Peutz-Jeghers syndrome was resected, and we started capecitabine plus oxaliplatin (CapeOX) as adjuvant therapy. However, local recurrence was noted, and the tumor increased even after CapeOX plus bevacizumab and fluorouracil plus leucovorin plus irinotecan plus panitumumab (FOLFIRI plus panitumumab). Pembrolizumab was administered after confirming high-frequency microsatellite instability, and the tumor shrank markedly and remained shrunk for 20 months.

Giant rectal polyp prolapse in an adult patient with the Peutz-Jeghers syndrome.

Peutz-Jeghers Syndrome (PJS) is an autosomal dominant intestinal polyposis syndrome characterised by the presence of hamartomatous polyps and mucocutaneous pigmentation. Prolapse of the polyps through the anus is an infrequent manifestation in children with PJS, and this complication is extremely rare in adult patients. We report the case of a 30-year-old man recently diagnosed with PJS who was seen at the emergency department because of the abrupt onset of severe anal pain with a foreign body sensation in the anal canal and rectal bleeding.Physical examination revealed a giant prolapsed polyp.

Q-switched Nd:YAG laser treatment for labial lentigines associated with Peutz-Jeghers syndrome.

BACKGROUND AND OBJECTIVE: Labial lentigines associated with Peutz-Jeghers syndrome are cosmetically disfiguring and distressful. Although multiple treatment modalities including Q-switched ruby laser and Q-switched alexandrite laser have been proposed, experience with Q-switched Nd:YAG laser has been lacking. This study aimed to retrospectively evaluate the efficacy and safety of Q-switched Nd:YAG laser (532 nm) for labial lentigines in Peutz-Jeghers syndrome. PATIENTS AND METHODS: Demographic and clinical data of 11 patients diagnosed with Peutz-Jeghers syndrome were analyzed. A quartile grading system was used. All patients were treated with a Q-switched Nd:YAG laser system with the following parameters: wavelength 532 nm; spot size 3 mm; pulse duration 5-20 ns; fluence 1.8-2.2 J/cm(2) . RESULTS: After two to six (mean 3.6) treatment sessions, an average grade of 3.73 was achieved. Eight patients (72.7 %) showed an excellent response with more than 75 % lesion clearance. Three patients (27.3 %) showed a good response. Repeated treatments led to improved clearance of labial lentigines. Age, gender, and Fitzpatrick skin type were not statistically associated with efficacy grades after the first treatment session. Neither recurrence in treated areas nor significant complications were observed. CONCLUSIONS: Q-switched Nd:YAG laser provides an effective and safe treatment option for labial lentigines associated with Peutz-Jeghers syndrome.

Risk factors for surgery in pediatric intussusception in the era of pneumatic reduction.

INTRODUCTION: Surgical treatment is still necessary for intussusception management in a subgroup of patients, despite advances in enema reduction techniques. Early identification of these patients should improve outcomes. METHODS: The medical records of patients treated for intussusception at our institution from 2006 to 2011 were reviewed. Univariate and multivariate analyses, including stepwise logistic regression, were performed. RESULTS: Overall, 379 patients were treated for intussusception, and 101 (26%) patients required operative management, with 34 undergoing intestinal resection. The post-operative complication rate was 8%. On multivariate analysis, failure of initial reduction (OR 9.9,p=0.001 95% CI, 4.6-21.2), a lead point (OR 18.5,p=0.001 95% CI, 6.6-51.8) or free/interloop fluid (OR 3.3,p=0.001 95% CI, 1.6-6.7) or bowel wall thickening on ultrasound (OR 3.3,p=0.001 95% CI, 1.1-10.1), age <1 year at reduction (OR 2.7,p=0.004, 95% CI, 1.4-5.9), and abdominal symptoms>2 days (OR 2.9,p=0.003, 95% CI, 1.4-5.9) were significantly associated with a requirement for surgery. Similarly, a lead point (OR 14.5, p=0.005 95% CI, 2.3-90.9) or free/interloop fluid on ultrasound (OR 19.8, p=0.001 95% CI, 3.4-117) and fever (OR 7.2, p=0.023 95% CI, 1.1-46) were significantly associated with the need for intestinal resection. CONCLUSION: Abdominal symptoms>2 days, age<1 year, multiple ultrasound findings, and failure of initial enema reduction are significant predictors of operative treatment for intussusception. Patients with these findings should be considered for early surgical consultation or transfer to a hospital with pediatric surgical capabilities.

Peutz-Jeghers syndrome: data from the Singapore Polyposis Registry and a shifting paradigm in management.

INTRODUCTION: Peutz-Jeghers Syndrome (PJS) is an uncommon autosomal dominant hamartomatous polyposis syndrome. Morbidity arises from polyp-related complications and increased risks of malignancy. We report on PJS patients registered in the Singapore Polyposis Registry, identified principal causes of morbidity and appraised current management strategies. A followup protocol based on recent literature has been proposed. MATERIALS AND METHODS: A search of a prospectively collected database in the Singapore Polyposis Registry was made. Only patients who fulfilled the diagnostic criteria of PJS were included. The clinical records were retrieved for review. Information on affected family members was obtained from the Registry's pedigree records. RESULTS: Seven unrelated patients fulfilled the criteria of having PJS. Principal causes of morbidity include recurrent bouts of abdominal colic, episodes of intestinal obstruction, gastrointestinal bleeding and the need for repeated laparotomies. Six out of 7 patients had initial presentation with acute intestinal obstruction requiring emergency laparotomy. Management was mostly problem-oriented and marked inter-surgeon variation with regard to cancer screening and genetic counselling was observed. CONCLUSION: Patients with PJS suffer gastrointestinal complications from polyposis and are at increased risks for developing cancers. A move towards surveillance and planned comprehensive care may reduce the morbidity of the condition. A protocol driven approach conducted in the setting of a Polyposis Registry is ideally suited to facilitate such care.

Pediatric small bowel intussusception disease: feasibility of screening for surgery with early computed tomographic evaluation.

BACKGROUND: This study investigated the feasibility of early computed tomographic (CT) evaluation and the operative results of pediatric small bowel intussusception with deteriorating ischemic or obstructive symptoms, so-called small bowel intussusception disease (SBID). METHODS: Between 1988 and 1999, among 18 patients surgically proven SBID (conventional group), 12 mimicked ileocolic intussusception and were conventionally managed with abdominal radiography, ultrasonography, reduction enema, and eventually operation. Between 2000 and 2008, we applied a modified approach with inclusion of early CT evaluation if ultrasonography showed a target lesion suspicious for SBID (diameter

Peutz-Jeghers syndrome: data from the Singapore Polyposis Registry and a shifting paradigm in management

<p><b>INTRODUCTION</b>Peutz-Jeghers Syndrome (PJS) is an uncommon autosomal dominant hamartomatous polyposis syndrome. Morbidity arises from polyp-related complications and increased risks of malignancy. We report on PJS patients registered in the Singapore Polyposis Registry, identified principal causes of morbidity and appraised current management strategies. A followup protocol based on recent literature has been proposed.</p><p><b>MATERIALS AND METHODS</b>A search of a prospectively collected database in the Singapore Polyposis Registry was made. Only patients who fulfilled the diagnostic criteria of PJS were included. The clinical records were retrieved for review. Information on affected family members was obtained from the Registry's pedigree records.</p><p><b>RESULTS</b>Seven unrelated patients fulfilled the criteria of having PJS. Principal causes of morbidity include recurrent bouts of abdominal colic, episodes of intestinal obstruction, gastrointestinal bleeding and the need for repeated laparotomies. Six out of 7 patients had initial presentation with acute intestinal obstruction requiring emergency laparotomy. Management was mostly problem-oriented and marked inter-surgeon variation with regard to cancer screening and genetic counselling was observed.</p><p><b>CONCLUSION</b>Patients with PJS suffer gastrointestinal complications from polyposis and are at increased risks for developing cancers. A move towards surveillance and planned comprehensive care may reduce the morbidity of the condition. A protocol driven approach conducted in the setting of a Polyposis Registry is ideally suited to facilitate such care.</p>

Is Colonoscopy Necessary in Children Suspected of Having Colonic Polyps?

BACKGROUND/AIMS: The clinical spectrum, histology, and endoscopic features of colonic polyps in the pediatric age group were studied to evaluate the role of colonoscopy in children suspected of having colonic polyps. METHODS: Seventy-six patients with colorectal polyps were studied. Investigations included barium enema (n=6), sigmoidoscopy (n=17), and colonoscopy (n=53) at the initial visit. Colonoscopy was also performed in 23 patients who received barium enema or sigmoidoscopy. Data related to age, gender, family history, signs, symptoms, size, location, polyp types, and associated diseases were collected and analyzed. RESULTS: Among the 76 patients, juvenile polyps were detected in 58 (76.3%), potentially premalignant polyposis in 17 (22.4%), familial adenomatous polyposis in 11 (14.5%), Peutz-Jegher syndrome in 4 (5.3%), and juvenile polyposis syndrome in 2 (2.6%). Twenty-two patients (28.9%) had polyps in the upper colon. All patients with potentially malignant polyps had polyps in both the upper colon and rectosigmoid colon. CONCLUSIONS: Although most of the children with colorectal polyps had juvenile polyps, a significant number of cases showed multiple premalignant and proximally located polyps. This finding emphasizes the need for a colonoscopy in such patients. Thus, the risk of malignant change, particularly in children with multiple polyps, makes surveillance colonoscopy necessary.

Q-switched alexandrite laser treatment of oral labial lentigines in Chinese subjects with Peutz-Jeghers syndrome.

BACKGROUND: Peutz-Jeghers syndrome (PJS) is characterized by gastrointestinal hamartomatous polyps and visible mucocutaneous lentigines distributed in the oral and anal mucosa, hands, face, and nails. Although there are many reports regarding successful treatment of intestinal polyps of PJS, there is little information regarding treatment of lentigines. Q-switched lasers are the preferred method of treatment for benign melanocytic lesions. OBJECTIVE: To evaluate the efficacy of the Q-switched alexandrite laser (QSAL) in treating oral labial lentigines of PJS. METHODS AND MATERIALS: Fourteen cases of laser treatment of oral labial lentigines in patients diagnosed with PJS were studied between 2005 and 2008. All were treated using a single treatment with a QSAL with a 3-mm handpiece and a fluence of 4.0 to 9.0 J/cm(2). Retrospective analysis of the effect of QSAL was conducted. RESULTS: All 14 cases exhibited successful elimination of treated lentigines after one laser treatment. There were significant acute side effects. After a median 2-year follow-up, there were no recurrences or scars in treated sites. CONCLUSIONS: The QSAL provides effective treatment for removal of labial lentigines associated with PJS.

Multidetector CT in small-bowel neoplasms.

PURPOSE: The aim of this study was to assess the diagnostic potential of multidetector computed tomography (MDCT) in the evaluation of small-bowel neoplasms. MATERIALS AND METHODS: We studied 120 patients with suspected small-bowel disease by 16-slice MDCT after oral administration of a polyethylene glycol solution (n=56) or methylcellulose via a nasojejunal tube (n=64). Unenhanced and contrast-enhanced CT was performed. Contrast-enhanced CT images were acquired 40 s after IV injection of 130 ml of iodinated contrast agent at a rate of 3 ml/s. Multiplanar reconstructions were performed at the end of the examinations. RESULTS: Fifteen patients were found to be affected by small-bowel neoplasm (six had non-Hodgkin's lymphoma, three had carcinoid tumour, two had Peutz-Jeghers syndrome, two had adenocarcinoma, two had melanoma metastases, one had lipoma). In the remaining patients, 58 cases of Crohn's disease and seven miscellaneous diseases were detected. All findings were confirmed by barium studies, surgery or endoscopy. CONCLUSIONS: MDCT performed after bowel-loop distension with low-density contrast material and IV administration of iodinated contrast agent is a reliable method for diagnosing and staging small-bowel neoplasms.

Clinical spectrum and surgical approach of adult intussusceptions: a multicentric study.

BACKGROUND: The preoperative diagnosis of adult intussusceptions (AIs) remains difficult, and the assessment of the radiological methods has been evaluated very little in the literature. The aim of this study was to evaluate the interest of the different imaging modalities for the preoperative diagnosis of AI and describe causes of AI. PATIENTS AND METHODS: Consecutive patients of 15 years and older with the postoperative diagnosis of intussusception from 1979 to 2004 were reviewed retrospectively for this multicentric study. Data concerning clinical considerations, morphological examinations, surgical procedure, histological conclusions, mortality rate and recurrence were analysed. RESULTS: Forty-four patients with documented intussusception were included. The mean age was 51 years (15-93 years). The preoperative diagnosis of intussusception was made in 52% of the cases. The sensitivities of the different radiological methods were abdominal ultrasounds (35%), upper gastrointestinal barium study (33%), abdominal computed tomography (CT) (58%) and barium enema (73%). An organic lesion was identified in 95% of the cases. There was 29 enteric and 15 colonic (including appendicular) intussusceptions. Thirty-seven percent of the enteric lesions were malignant, and a bit less than 50% of them were metastatic melanomas. The benign enteric lesions were Meckel's diverticulum and Peutz-Jeghers syndrome in half of the cases. Fifty-eight percent of the pure colonic lesions (excluding appendix) were malignant, and 85% of them were primary adenocarcinomas. The benign colonic lesions were lipomas in 80% of the cases. All patients, except one, had a surgical treatment, and 13 of them had a complete reduction of the intussusception before resection. The mortality rate was 16% and recurrence occurred in three patients; two of them had a Peutz-Jeghers syndrome. CONCLUSION: Intussusception rarely occurs in adults, but nearly half of their causes are malignant. The CT scan is a helpful examination for enteric intussusceptions whether barium enema seems to be the most performing method for colonic lesions. Surgery is the recommended treatment, with or without a primary reduction of the intussusception. During the surgical procedure, this reduction can lead to a more limited bowel resection.

Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.

CONTEXT: Significant proportions of patients with hamartomatous polyposis or with hyperplastic/mixed polyposis remain without specific clinical and molecular diagnosis or present atypically. Assigning a syndromic diagnosis is important because it guides management, especially surveillance and prophylactic surgery. OBJECTIVE: To systematically classify patients with unexplained hamartomatous or hyperplastic/mixed polyposis by extensive molecular analysis in the context of central rereview of histopathology results. DESIGN, SETTING, AND PATIENTS: Prospective, referral-based study of 49 unrelated patients from outside institutions (n = 28) and at a comprehensive cancer center (n = 21), conducted from May 2, 2002, until December 15, 2004. Germline analysis of PTEN, BMPR1A, STK11 (sequence, deletion), SMAD4, and ENG (sequence), specific exon screening of BRAF, MYH, and BHD, and rereview of polyp histology results were performed. MAIN OUTCOME MEASURES: Molecular, clinical, and histopathological findings in patients with unexplained polyposis. RESULTS: Of the 49 patients, 11 (22%) had germline mutations. Of 14 patients with juvenile polyposis, 2 with early-onset disease had mutations in ENG, encoding endoglin, previously only associated with hereditary hemorrhagic telangiectasia; 1 had hemizygous deletion encompassing PTEN and BMPR1A; and 1 had an SMAD4 mutation. One individual previously classified with Peutz-Jeghers syndrome had a PTEN deletion. Among 9 individuals with an unknown hamartomatous polyposis, 4 had mutations in STK11 (1), BMPR1A (2), and SMAD4 (1). Of the 23 patients with hyperplastic/mixed polyposis, 2 had PTEN mutations. Substantial discrepancies in histopathology results were seen. CONCLUSIONS: Systematic molecular classification of 49 patients with unexplained hamartomatous or hyperplastic polyposis uncovered a potential novel susceptibility gene, ENG, for juvenile polyposis. Importantly, given the substantial proportion of patients found to have germline mutations, more extensive analysis of the known susceptibility genes is indicated. Rereview of histology results by a dedicated gastrointestinal pathologist should be considered routinely, as organ-specific surveillance rests on defining syndromic diagnosis.

Colo-colonic intussusception caused by a solitary Peutz-Jeghers polyp.

A case of acute large bowel obstruction by colo-colonic intussusception in a healthy 19-year-old man is presented. The lead point of the intussusception is a rare solitary colonic Peutz-Jeghers polyp in the descending colon of a man without the full Peutz-Jeghers syndrome. The clinical presentation, imaging findings on plain radiographs, single contrast enema and CT, and findings at colonoscopy and surgery are correlated with pathology results and a brief review of the literature.

A prospective trial comparing wireless capsule endoscopy and barium contrast series for small-bowel surveillance in hereditary GI polyposis syndromes.

BACKGROUND: Capsule endoscopy has demonstrated its clinical utility in the evaluation of the small bowel, and, accordingly, it has been suggested that it could be useful for the identification of small-intestinal polyps in patients with polyposis syndromes. The objective was to establish the effectiveness of wireless capsule endoscopy for detecting small-bowel polyps in patients with hereditary GI polyposis syndromes in comparison with barium contrast series. METHODS: Consecutive patients with GI polyposis syndromes were included. Small-bowel follow-through series and capsule endoscopy were performed within 1 week, in a blind fashion. The number and the location of polyps were analyzed. RESULTS: Twenty-four patients with familial adenomatous polyposis (n = 20) or Peutz-Jeghers syndrome (n = 4) were included. Capsule endoscopy detected small-bowel polyps in 7 of 24 patients (29%), whereas a barium contrast study identified small-intestinal polyps in only 3 of these 7 patients. In the 4 remaining patients, all of them with familial adenomatous polyposis, polyps detected by the capsule but missed in radiographic series were located at either ileum (2 patients), jejunum (1), or duodenum (1). No procedure-related complication was observed in any patient. CONCLUSIONS: Wireless capsule endoscopy is a highly accurate technique for the detection of small-bowel polyps in patients with hereditary GI polyposis syndromes, and it represents a valuable alternative to barium contrast series in the surveillance of patients with Peutz-Jeghers syndrome.

Suppression of Peutz-Jeghers polyposis by inhibition of cyclooxygenase-2.

BACKGROUND & AIMS: Peutz-Jeghers syndrome (PJS) is typically manifested as severe gastrointestinal polyposis. Polyps in PJS patients and in Lkb1(+/-) mice that model PJS polyposis are frequently characterized by elevated cyclooxygenase-2 (COX-2). This study was designed to determine whether COX-2 inhibition would reduce tumor burden in Lkb1(+/-) mice or Peutz-Jeghers patients. METHODS: Genetic interactions between Cox-2 and Lkb1 in polyp formation were analyzed in mice with combined deficiencies in these genes. Pharmacologic inhibition of COX-2 was achieved by supplementing the diet of Lkb1(+/-) mice with 1500 ppm celecoxib between 3.5-10 and 6.5-10 months. In PJS patients, COX-2 was inhibited with a daily dose of 2 x 200 mg celecoxib for 6 months. RESULTS: Total polyp burden in Lkb1(+/-) mice was significantly reduced in a Cox-2(+/-) (53%) and in a Cox-2(-/-) (54%) background. Celecoxib treatment initiating before polyposis (3.5-10 months) led to a dramatic reduction in tumor burden (86%) and was associated with decreased vascularity of the polyps. Late treatment (6.5-10 months) also led to a significant reduction in large polyps. In a pilot clinical study, a subset of PJS patients (2/6) responded favorably to celecoxib with reduced gastric polyposis. CONCLUSIONS: These data establish a role for COX-2 in promoting Peutz-Jeghers polyposis and suggest that COX-2 chemoprevention may prove beneficial in the treatment of PJS.

Intussusception of the small bowel due to Peutz-Jeghers syndrome: a case report.

The Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by hamartomatous polyposis of the gastrointestinal tract, melanin pigmentation of the skin and mucous membranes, and an increased risk for cancer. The incidence of surgical complications in these patients is relatively rare, and correlates with the size and location of the polyps. Herein we report the case of a 27-year-old woman presented with episodes of abdominal pain, abdominal distention and intermittent vomiting. Moreover, multiple pigmentation of the mouth was also noted. A preoperative diagnosis of a double jejunal intussusception and jejunal occlusion was based on the findings of small bowel enema and computed tomography. The diagnosis was confirmed at laparotomy.

Colonic Polyps; Experience of 34 Cases in Two Hospitals / 소아과

PURPOSE: Colonic polyps are among the most common causes of rectal bleeding in children. We studied the clinical spectrum, histology, malignant potential and treatment of colonic polyps in our cases. METHODS: We reviewed hospital charts of all patients with colonic polyps, seen over a 15-year period from January 1988 to November 2002. Colonoscopy and/or barium enema were done for diagnosis of colonic polyps. Thirty-four children, aged one to 18 years old with colonic polyps, were enrolled in this study. Clinical spectrum, gross appearance, histologic appearance, malignant potential, treatment and prognosis of the colonic polyps were evaluated. RESULTS:The mean age of these patients was 6.4 years, with a male predominance(M:F=1.9:1). All patients had symptoms of rectal bleeding of a mean duration of five months. Solitary polyps were seen in 82.4%(28/34), more than on polyp(all had two polyps) in 11.8%(4/34), juvenile polyposis syndrome in 2.9%(1/34), and Peutz-Jegher syndrome in 2.9%(1/34) of the cases. All but one of the 36 polyps had typical features of a juvenile polyp on histological examination. Adenomatous change was observed in 2.8%(1/36) of juvenile polyps. 94.4%(34/36) of juvenile polyps were located in the rectosigmoid region, 2.8%(1/36) were in the distal colon, and 2.8%(1/36) were in the proximal colon. False negative result of barium enema alone without colonoscopy were found in 25%(2/8), and rectosigmoidscopy alone could miss proximal polyps. Colonoscopic polypectomy or surgical transrectal polypectomy were performed in all cases without major complications. Surgical polypectomy needed general anesthesia in 100%(11/11) of children compared to colonoscopic polypectomy which needed general anesthesia in 23.8%(5/21) of children. Recurrence of polyps was observed only in 2.9%(1/34) of the children. CONCLUSION: Juvenile polyps may be the most common colonic polyps in children. Juvenile polyps should be removed even if asymptomatic because of their neoplastic potential. Because some cases of colonic polyps may be multiple and proximally located, pancolonoscopic polypectomy is recommended in all cases. Surgical polypectomy is less recommended, because general anesthesia is required in all cases and proximal polyps could be missed.