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Rectal polyps
Published in Mark Davenport, James D. Geiger, Nigel J. Hall, Steven S. Rothenberg, Operative Pediatric Surgery, 2020
The differential diagnosis of juvenile polyps encompasses all of the causes of rectal bleeding in toddlers and children up to the age of 6 years. Anal fissures and rectal prolapse cause rectal bleeding, but are easily distinguished from polyps on physical examination. Bleeding from a Meckel's diverticulum or duplication of the intestine usually causes more substantial blood loss than that from a polyp, and the blood usually mingles with the stool rather than coating it. Bleeding from an intussusception is accompanied by abdominal pain that is substantially worse than that seen with polyps. Inflammatory bowel disease is usually accompanied by diarrhea, which is not seen with polyps. Blood dyscrasias, such as Henoch– Schönlein purpura, should also be considered in the differential diagnosis. Rectal polyps occur in up to 15% of children with Peutz–Jeghers syndrome, and this condition should be considered.
Gastrointestinal cancer
Published in Peter Hoskin, Peter Ostler, Clinical Oncology, 2020
Peutz–Jeghers syndrome is dominantly inherited and caused by a mutation in the STK11 tumour-suppressor gene located on chromosome 19p13. It is characterized by the development of multiple bowel hamartomas and an increased risk of colon cancer. The risk for colorectal cancer is estimated at 40% by age 70 years.
Paediatric Surgery: What the Adult Surgeon Needs to Know
Published in Peter Sagar, Andrew G. Hill, Charles H. Knowles, Stefan Post, Willem A. Bemelman, Patricia L. Roberts, Susan Galandiuk, John R.T. Monson, Michael R.B. Keighley, Norman S. Williams, Keighley & Williams’ Surgery of the Anus, Rectum and Colon, 2019
Marc A. Levitt, Richard J. Wood
Peutz–Jeghers syndrome consists of multiple hamartomatous polyps, usually in the proximal small bowel and cutaneous melanin deposition, most commonly in the perioral region and buccal mucosa. The disease is familial, showing autosomal-dominant inheritance with variable penetration, with the mutant gene (LKB1/STK) found in 50% of cases.30 There is an increased risk of colorectal cancer and extraintestinal malignancy (22% to 48%). Extraintestinal malignancies include pancreatic, breast, ovarian and testicular carcinoma in children and uterine cervical carcinoma.
A case of recurrent pigmented macules in Laugier-Hunziker syndrome treated using a Q-switched Nd-YAG laser
Published in Journal of Cosmetic and Laser Therapy, 2019
Myoung Eun Choi, Chang Jin Jung, Woo Jin Lee, Chong Hyun Won, Sung Eun Chang, Mi Woo Lee, Jee Ho Choi, Seung Hwan Paik
A skin biopsy was performed on her lower lip. Subsequent histologic findings revealed increased basal pigmentation without any change in the number of melanocytes. Immunohistochemical staining revealed mild positivity for MART-1 and PKC-β. (Figures 2, 3) To rule out Peutz-Jeghers syndrome, the patient underwent an esophagogastroduodenoscopy, small bowel series and colonoscopy which revealed no significant findings. Blood test results were also within normal ranges. The patient was therefore diagnosed with Laugier-Hunziker syndrome and treated with a Q-switched neodymium: yttrium-aluminum-garnet (Nd:YAG) laser set at a wavelength of 532 nm and fluence of 1.2 J/cm2, with a 4 mm spot size on her lip. This treatment was performed twice with a three week interval and successfully eliminated the black pigmentation with no side effects.
Gallbladder Papilloma in a Child Unmasking Metachromatic Leukodystrophy: A Case Report With Review of Literature
Published in Fetal and Pediatric Pathology, 2019
Marwa Abdel Aziz, Mostafa Kotb, Yasmine Abdelmeguid, Sameh Shehata, Mona Abdel-Hadi
In absence of a prior diagnosis of MLD, other causes of gallbladder polypoid lesions needed to be excluded. The presence of a metaplastic gastric and intestinal epithelium in our case excluded the possibility of both papillary mucosal hyperplasia and cholesterol polyps, since both are known to be lined by normal pancreaticobiliary epithelium. Although cholesterol polyps also tend to show numerous histiocytes, these later are often lipid laden and do not show any metachromatic granules [14]. Moreover, since the main lesion measures 5.5 cm in maximal dimension, it is best referred to as an intracholecystic papillary neoplasm in background of papillary hyperplasia rather than be considered as florid papillary hyperplastic focus [15]. Polyps in Peutz–Jeghers syndrome tend to be hamartomatous with prominent fibromuscular hyperplasia in the form of arborizing smooth muscles in the lamina propria [16]. This was not seen in this case.
Sex-Cord Tumor with Annular Tubules with Unusual Morphology in an Infant with Peutz-Jeghers Syndrome
Published in Fetal and Pediatric Pathology, 2022
Priyanka Maity, Nandini Das, Uttara Chatterjee, Dhananjay Basak
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease characterized by hamartomatous gastrointestinal polyposis and mucocutaneous pigmentation [1]. Patients with PJS have an increased risk of other neoplasms involving the gastrointestinal tract, breast, female genital tract, testis and pancreas. The two distinct gynecological tumors associated with PJS are sex-cord tumor with annular tubules (SCTAT) and adenoma malignum of the uterine cervix [2–7]. This 5 day old girl with PJS presented with hamartomatous polyps in the sigmoid colon. At 6 months of age, at colostomy closure, an incidental ovarian SCTAT was found.