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Acta Dermato-venereologica 2008Schöpf-Schulz-Passarge syndrome is a rare ectodermal dysplasia, characterized chiefly by multiple eyelid apocrine hidrocystomas, palmo-plantar keratoderma, hypodontia,... (Review)
Review
Schöpf-Schulz-Passarge syndrome is a rare ectodermal dysplasia, characterized chiefly by multiple eyelid apocrine hidrocystomas, palmo-plantar keratoderma, hypodontia, hypotrichosis and nail dystrophy. The clinical spectrum and the most likely inheritance pattern(s) have not yet been completely defined. We report here on two, unrelated patients presenting with additional, previously unreported features, including hypoplastic nipples and optic atrophy. Both individuals were born to consanguineous parents, and one also has affected siblings. A literature review identified 23 additional cases. Multiple eyelid apocrine hidrocystomas, described in all of the cases, are the hallmark of this condition, although they usually appear in adulthood. The concomitant presence of eccrine syringofibroadenoma in most patients and of other adnexal skin tumours in 44% of affected subjects indicates that Schöpf-Schulz-Passarge is a genodermatosis with skin appendage neoplasms. However, the risk of skin and visceral malignancies is not increased. Pedigree study demonstrates that 9 of the 13 published familial cases may be explained by an autosomal recessive mutation, while the remaining pedigrees show apparent vertical transmission compatible with genetic heterogeneity. The benign disease course and advanced age at diagnosis could also suggest locus homogeneity for a recessive mutation with instances of pseudodominant inheritance.
Topics: Aged; Anodontia; Consanguinity; Ectodermal Dysplasia; Eyelid Neoplasms; Female; Hidrocystoma; Humans; Hypotrichosis; Keratoderma, Palmoplantar; Male; Nails, Malformed; Nipples; Optic Atrophy; Phenotype; Sweat Gland Neoplasms; Syndrome
PubMed: 19002348
DOI: 10.2340/00015555-0547 -
BMC Gastroenterology Apr 2022Emphysematous cystitis (EC) is characterized by the presence of air within the bladder wall, often a complication of urinary tract infection (UTI) by gas-producing...
BACKGROUND
Emphysematous cystitis (EC) is characterized by the presence of air within the bladder wall, often a complication of urinary tract infection (UTI) by gas-producing organisms. However, EC has also been reported in the setting of infectious colitis suggesting an alternate etiology. We report a rare case of EC in the setting of severe Crohn's colitis with no clinical evidence of UTI.
CASE PRESENTATION
A 43-year old female presented with a 2-month history of bloody diarrhea consisting of 8-12 bowel movements a day, weight loss of 10 kg and peripheral edema. She also had multiple ulcerated lesions on her abdominal wall and in the perianal region. Initial CT scan was significant for pancolitis, anasarca and EC. The follow-up CT cystogram, flexible cystoscopy and pelvic MRI confirmed the diagnosis of EC and ruled out any fistulous tracts in the pelvis including enterovesical/colovesical fistula. The patient did not report any urinary symptoms and the urinalysis was within normal limits. An extensive infectious workup was negative. Despite the paucity of infectious findings, the EC was empirically treated with an intravenous third-generation cephalosporin. Colonoscopy was significant for multiple ulcerated and hyperemic areas with pseudopolyps all throughout the right, transverse and left colon. Biopsies confirmed Crohn's colitis with no evidence of granulomata or dysplasia. Immunohistochemistry was negative for CMV. The perianal and abdominal wall lesions were suspected to be pyoderma gangrenosum although biopsies were equivocal. The colitis was initially treated with intravenous steroids followed by biologic therapy with Infliximab. Despite appropriate escalation of therapies, the patient developed colonic perforation requiring subtotal colectomy.
CONCLUSION
This is a rare case of EC in a patient with severe Crohn's colitis. There was no evidence of urinary tract infection or fistulising disease. According to our review, this is the first reported incident of EC in a patient with inflammatory bowel disease without any prior intra-abdominal surgeries. While active Crohn's disease alone is a critical illness, we conclude that concomitant EC may be a poor prognostic factor.
Topics: Adult; Colitis; Crohn Disease; Cystitis; Female; Humans; Infliximab; Intestinal Fistula
PubMed: 35410166
DOI: 10.1186/s12876-022-02253-6 -
GE Portuguese Journal of... Jul 2022-lymphogranuloma venereum (LGV) is a sexually transmitted infection (STI) and an uncommon cause of proctitis. The diagnosis requires a high index of clinical suspicion,...
BACKGROUND
-lymphogranuloma venereum (LGV) is a sexually transmitted infection (STI) and an uncommon cause of proctitis. The diagnosis requires a high index of clinical suspicion, since the clinical, imaging, endoscopic, and histological findings can mimic multiple benign or malignant conditions like inflammatory bowel disease and rectal neoplasms.
CASE PRESENTATION
We present the case of a 48-year-old Caucasian male with no significant previous medical history who was admitted due to the suspicion of a rectal neoplasia. He underwent an abdominopelvic computed tomography (CT) scan and pelvic magnetic resonance imaging (MRI) before admission due to complaints of anorectal pain, hematochezia, and constipation over the previous 2 weeks. The examination revealed a circumferential rectal wall thickening, infiltration of the perirectal fat and invasion of the mesorectal fascia, associated with perirectal fat lymphadenopathy. A radiological diagnosis of a rectal malignant neoplasia staged as T4N2MX was stated. Digital rectal examination identified a circumferential rectal tumor. Rectosigmoidoscopy showed an extensive and circumferential ulceration of the rectal mucosa, with elevated geographical borders, exudate, and aphthoid erosions at the proximal limit of the endoscopic mucosal ulceration. Biopsy specimens revealed acute ulcerative proctitis with lymphoplasmocytic inflammatory infiltrate but no evidence of dysplasia or malignancy. A STI screening was positive for HIV-1 (CD4+ 251/mm; = 700-1,100) and , with an elevated IgA-specific antibody titer (52.000; < 5.0), suggesting LGV disease. The diagnosis was confirmed by the identification of DNA on rectal swab. Other infectious causes of acute proctitis were excluded. When faced with these results, the patient ended up mentioning that he had unprotected anal sex with men. He started treatment with doxycycline 100 mg twice a day for 21 days, with a drastic improvement. Rectosigmoidoscopy was repeated and showed clear signs of progressive resolution of the ulcerative proctitis.
DISCUSSION
LGV-associated proctitis, often undervalued, is a reemerging disease which should always be considered a benign cause of rectal mass, in order to avoid delay in diagnosis and development of complications. Diagnosis becomes more challenging in patients with unknown HIV status. A detailed clinical history, including sexual behaviors, is a vital step to achieve the final diagnosis.
PubMed: 35979244
DOI: 10.1159/000516011 -
Gastroenterology Report Feb 2019This study sought to evaluate the risk factors for the development of colitis-associated neoplasia (CAN) in Chinese patients with inflammatory bowel disease (IBD).
BACKGROUND
This study sought to evaluate the risk factors for the development of colitis-associated neoplasia (CAN) in Chinese patients with inflammatory bowel disease (IBD).
METHODS
IBD patients who developed CAN between 1999 and 2016 were identified from eight medical centers. In addition to initial pathology evaluation, a CAN diagnosis was confirmed by two expert pathologists. Patients with CAN ( = 29) were compared with non-CAN controls ( = 87). Matching was performed for gender and IBD type with a ratio of three controls to one subject.
RESULTS
Of the 29 patients with CAN, 8 (27.6%) had colorectal cancer (CRC), 20 (69.0%) had a final diagnosis of low-grade dysplasia and 1 (3.4%) had high-grade dysplasia. Multivariate analysis revealed that an older age at the time of IBD diagnosis and a longer IBD duration were independent risk factors for the development of CAN, with odds ratios of 1.09 [95% confidence interval (CI): 1.04-1.14, <0.001] and 1.14 (95% CI: 1.03-1.27, =0.013), respectively. Comparison between IBD patients with CRC and those with dysplasia indicated that the former were older at the time of IBD diagnosis (=0.012) and had longer IBD durations (=0.019).
CONCLUSIONS
Older age at the time of IBD diagnosis and longer IBD duration were found to be associated with the development of CAN in IBD patients.
PubMed: 30792868
DOI: 10.1093/gastro/goy039 -
Obstetrics and Gynecology Nov 2021To compare maternal and neonatal outcomes after preterm prelabor rupture of membranes (PROM) from 23 to 34 weeks of gestation in twin compared with singleton gestations.
OBJECTIVE
To compare maternal and neonatal outcomes after preterm prelabor rupture of membranes (PROM) from 23 to 34 weeks of gestation in twin compared with singleton gestations.
METHODS
We conducted a secondary analysis of an obstetric cohort of 115,502 individuals and their singleton or twin neonates born in 25 hospitals nationwide (2008-2011). Those with preterm PROM from 23 0/7 through 33 6/7 weeks of gestation were included; neonates with major fetal anomalies were excluded. The coprimary outcomes for this analysis were composite maternal morbidity (chorioamnionitis, blood transfusion, postpartum endometritis, wound infection, sepsis, venous thromboembolism, intensive care unit admission, or death) and composite major neonatal morbidity (persistent pulmonary hypertension, intraventricular hemorrhage grade III or IV, seizures, hypoxic-ischemic encephalopathy, necrotizing enterocolitis stage II or III, bronchopulmonary dysplasia, stillbirth subsequent to admission, or neonatal death before discharge). Logistic regression was used to estimate unadjusted and adjusted odds ratios (ORs) with 95% CIs for twin compared with singleton gestations.
RESULTS
Of 1,531 (1.3%) individuals who met eligibility criteria for this analysis, 218 (14.2%) had twin gestations. The median gestational age at preterm PROM was similar between those with twins and singletons (31.2 weeks [interquartile range 27.4-32.9] vs 30.6 weeks [interquartile range 26.9-32.7], P=.23); however, those with twin gestations had a shorter median latency period (2.0 days [interquartile range 1.0-5.0] vs 3.0 days [interquartile range 2.0-8.0], P<.001). After adjustment for potential confounders, odds of experiencing composite maternal morbidity (17.9% vs 19.3%, adjusted OR 0.97, 95% CI 0.66-1.42) or composite neonatal morbidity (20.4% vs 20.5%, OR 0.97, 95% CI 0.72-1.31) did not differ between groups.
CONCLUSION
In a large, diverse cohort, the likelihood of composite maternal or neonatal morbidity per fetus after preterm PROM was similar for twin and singleton gestations.
Topics: Adult; Chorioamnionitis; Cohort Studies; Endometritis; Enterocolitis, Necrotizing; Female; Fetal Membranes, Premature Rupture; Gestational Age; Humans; Infant, Newborn; Infant, Premature; Outcome Assessment, Health Care; Perinatal Mortality; Pregnancy; Pregnancy Outcome; Pregnancy, Twin; Premature Birth; Sepsis; Venous Thromboembolism; Wound Infection; Young Adult
PubMed: 34619719
DOI: 10.1097/AOG.0000000000004561 -
Journal of the Endocrine Society Sep 2021mutations have been reported in both McCune-Albright syndrome (MAS) and juvenile granulosa cell tumors (JGCT) but have never been reported simultaneously in the same...
INTRODUCTION
mutations have been reported in both McCune-Albright syndrome (MAS) and juvenile granulosa cell tumors (JGCT) but have never been reported simultaneously in the same patient.
CASE PRESENTATION
A 15-year-old girl developed secondary oligomenorrhea. Laboratory studies revealed suppressed gonadotropin levels with markedly elevated estradiol and inhibin B levels. Pelvic ultrasound showed a 12-cm heterogeneous right adnexal mass; pelvic magnetic resonance imaging to further characterize the mass displayed heterogeneous bilateral femoral bone lesions initially concerning for metastatic disease. Positron emission tomography/computed tomography showed minimal F-fluorodeoxyglucose (FDG) uptake in the pelvic mass but unexpectedly revealed FDG uptake throughout the skeleton, concerning for polyostotic fibrous dysplasia in the context of MAS. The adnexal mass was excised and pathology confirmed a JGCT. The patient's affected bone and JGCT tissue revealed the same pathogenic p.R201C mutation, while her peripheral blood contained wild-type arginine at codon 201.
CONCLUSION
This mutation has been previously reported in cases of MAS and JGCT but never simultaneously in the same patient. This demonstration of a mutation underlying both JGCT and MAS in the same patient raises questions about appropriate surveillance for patients with these conditions.
PubMed: 34286167
DOI: 10.1210/jendso/bvab098 -
Annals of Medicine and Surgery (2012) Oct 2022Malignant tumours of the small bowel are uncommon in clinical practice. Adenocarcinoma is the most common of these tumours, accounting for approximately 35-45% of all...
INTRODUCTION
Malignant tumours of the small bowel are uncommon in clinical practice. Adenocarcinoma is the most common of these tumours, accounting for approximately 35-45% of all tumours. It may occur sporadically, in association with familial adenomatous polyposis coli or Peutz-Jeghers syndrome or hereditary non-polyposis colorectal cancer, or in association with chronic inflammatory bowel changes (such as Crohn's disease or celiac disease).
MATERIALS AND METHODS
We report a case of Early Discovery Of Small Bowel Adenocarcinoma In A Patient Admitted For 4 Acute Intestinal Intussusception in the department of Emergency visceral surgery P35 of the ibn rochd hospital in casablanca.
RESULTS
Our patient was admitted to the emergency room for sub-occlusive syndrome with generalized abdominal pain of chronic appearance dating back to one month before his admission With Abdominal and pelvic ultrasound showed: intestinal parietal thickening and minimal ascites (peritoneal and/or intestinal tuberculosis? Crohn's disease)The patient underwent an abdominal-pelvic CT scan which showed: Presence of diffuse small bowel thickening, involving several small intestines and the colonic angle with intestinal invaginations (at least 3) suspecting an inflammatory or tumoral origin? To be compared with histological data and infiltration of the mesenteric fat in the sub-umbilical region with a peritoneal effusion in the Douglas. the patient was operated on in the emergency room, approached by laparotomy and found on exploration: Presence of 3 invaginations in the small intestine located at 20cm and 90cm from the Duodenojejunal Angle (DIA) as well as at 25cm from the Last part of the small intestine (DAI), with Presence of a colonic invagination at the level of the left colonic angle. the patient underwent 3 small bowel resections and one segmental colonic resection including segmental small bowel resections: the 1st one of 30 cm taking away an invagination of the small intestine at 20cm from the ADJ, the 2nd one taking away 60cm of invaginated located at 90cm from the ADJ the 3rd one taking away 20cm of invaginated located at 25cm from the DAI and a 4th resection taking away an invagination of the left colonic angle with 3 Anastomosis of the T-T small intestine and a transverse Colostomy in Bouilley Volkman.On examination by the anapathomopathologist: consistent with a small bowel tumour: well-differentiated intestinal adenocarcinoma on degenerated adenomatous polyps measuring 2.5cm and 1.7cm with an estimated 10% mucinous component with no vascular emboli and no peri-nervous sheathing. TNM stage p: pT2 with healthy resection margins in the left colon: Presence of a tubular adenoma with low grade dysplasia.
CONCLUSION
The most common symptoms of adenocarcinoma of the small bowel are obstruction, overt or covert bleeding, weight loss and jaundice. Because the small bowel has long been relatively inaccessible to routine endoscopy, the diagnosis of small bowel adenocarcinoma was often delayed for several months after the onset of symptoms. Therefore, in case of suspicion of this type of cancer, a thorough evaluation should be undertaken. Nowadays, endoscopy of the small bowel is widely available, allowing an earlier non-invasive diagnosis.
PubMed: 36268363
DOI: 10.1016/j.amsu.2022.104776 -
Infectious Diseases in Obstetrics and... 2000Bacterial vaginosis is characterized by a shift from the predominant lactobacillus vaginal flora to an overgrowth of anaerobic bacteria. Bacterial vaginosis is... (Review)
Review
Bacterial vaginosis is characterized by a shift from the predominant lactobacillus vaginal flora to an overgrowth of anaerobic bacteria. Bacterial vaginosis is associated with an increased risk of gynecologic complications, including pelvic inflammatory disease, postoperative infection, cervicitis, human immunodeficiency virus (HIV), and possibly cervical intraepithelial neoplasia (CIN). The obstetrical risks associated with bacterial vaginosis include premature rupture of membranes, preterm labor and delivery, chorioamnionitis and postpartum endometritis. Despite the health risks associated with bacterial vaginosis and its high prevalence in women of childbearing age, bacterial vaginosis continues to be largely ignored by clinicians, particularly in asymptomatic women.
Topics: Endometritis; Female; Genital Diseases, Female; HIV Infections; Humans; Pelvic Inflammatory Disease; Postoperative Complications; Pregnancy; Pregnancy Complications; Risk Factors; Uterine Cervical Neoplasms; Uterine Cervicitis; Vaginosis, Bacterial; Uterine Cervical Dysplasia
PubMed: 10968604
DOI: 10.1155/S1064744900000260 -
International Journal of Environmental... Aug 2021(1) Background: The microbiome consists of microorganisms from various kingdoms with numerous physical and chemical properties Lactobacillus species constitute the...
(1) Background: The microbiome consists of microorganisms from various kingdoms with numerous physical and chemical properties Lactobacillus species constitute the highest percentage of healthy cervical and vaginal microbiota. Dysbiosis may cause adverse outcomes, e.g., bacterial vaginosis, pelvic inflammatory disease and pregnancy complications. The cervicovaginal microbiome might contribute to the development of a persistent HPV infection-the main risk factor of cervical cancer-and influence progression to malignancy The aim is to perform a systematic review of current literature and a meta-analysis regarding microbiome changes after cervical intraepithelial neoplasia treatment. (2) Methods: We will search PubMed, Scopus, Google Scholar and Embase Database and trace citations in the reference sections. Randomized and non-randomized controlled studies, case-control and cohort studies published between January 2000 and May 2021 will be included in the study protocol. The following keywords will be used: 'microbiome', 'vaginal microbiome', 'cervical microbiome', 'cervical neoplasia treatment', 'conization', 'electroconization', and 'electrosurgical treatment'. Statistical analyses will be performed using RevMan 5.4. (3) Results: The results will be published as a peer-reviewed article. (4) Conclusions: The study will show which forms of intraepithelial neoplasia treatment change the cervicovaginal microbiome. Finding the best form of treatment by studying the cervicovaginal microbiome after various forms of treatment is essential. Patients would benefit not only from the treatment of the initial disease but also the management of dysbiosis, which might underlie other pathologies.
Topics: Female; Humans; Meta-Analysis as Topic; Microbiota; Papillomaviridae; Papillomavirus Infections; Systematic Reviews as Topic; Uterine Cervical Neoplasms; Uterine Cervical Dysplasia
PubMed: 34501639
DOI: 10.3390/ijerph18179050 -
World Journal of Gastrointestinal... Jan 2022Inflammatory bowel disease (IBD) patients with post-inflammatory polyps (PIPs) may carry an increased risk of colorectal neoplasia (CRN) including dysplasia and cancer....
BACKGROUND
Inflammatory bowel disease (IBD) patients with post-inflammatory polyps (PIPs) may carry an increased risk of colorectal neoplasia (CRN) including dysplasia and cancer. Current guidelines recommend active colonoscopy follow-up for these patients. However, the evidence for guidelines is still poor. In addition, some recent high-quality reports present a different view, which challenges the current guidelines. We hypothesize that IBD patients with PIPs are at increased risk of CRN.
AIM
To evaluate the risk of CRN in IBD patients with and without PIPs.
METHODS
A systematic search of PubMed, Embase, Cochrane Library, and Web of Science was performed to identify studies that compared the risk of CRN in IBD patients with and without PIPs. In addition, we screened the reference lists and citation indices of the included studies. Quality assessment was performed using the Newcastle-Ottawa Scale. Pooled odds ratio (OR) was calculated using the random-effects model to explore the final pooled effect size of the included studies and determine whether PIPs increase the risk of CRN. Sensitivity analysis, subgroup analysis, and assessment of publication bias were performed to examine the sources of heterogeneity.
RESULTS
Twelve studies with 5819 IBD patients, including 1281 (22.01%) with PIPs, were considered eligible for this meta-analysis. We found that IBD patients with PIPs were at an increased risk of CRN as compared to those without PIPs [OR 2.01; 95% confidence interval (CI): 1.43-2.83]. The results were similar when colorectal cancer was used as the study endpoint (OR 2.57; 95%CI: 1.69-3.91). Furthermore, the risk of CRN was still increased (OR 1.80; 95%CI: 1.12-2.91) when restricted to ulcerative colitis patients. Heterogeneity was high among the included studies (² = 75%). Subgroup analysis revealed that the high heterogeneity was due to the study design. Sensitivity analysis showed that the main statistical outcomes did not essentially change after excluding any one of the included studies. No significant publication bias was found in the funnel plots.
CONCLUSION
IBD patients with PIPs have an increased risk of CRN as compared with those without PIPs, which support the current guidelines. However, a high-quality randomized controlled trial is warranted.
PubMed: 35116121
DOI: 10.4251/wjgo.v14.i1.348