Management of urinary tract in children with epidermolysis bullosa.

Epidermolysis bullosa is a group of rare genetic disorders characterized by noninflammatory blistering lesions of the skin occurring after minor mechanical trauma. In association with junctional epidermolysis bullosa, a syndrome of pyloric atresia has occasionally been noted in the literature. Several infants who had this combined disorder have been reported to have severe genitourinary tract involvement. Most of these patients have died at an early age because of severe urinary tract involvement. We describe a rare survivor who was initially treated with urinary diversion. Subsequent attempts at undiversion of this patient were unsuccessful. He is presently stable following rediversion. The entities of e. bullosa and e. bullosa/pyloric atresia are reviewed with emphasis on urologic associations.     

遗传性大疱性表皮松解症累及泌尿系统1例报道及文献复习

目的探讨遗传性大疱性表皮松解症(EB)患者泌尿生殖系统并发症的诊疗方案。方法通过诊治1例EB并发泌尿生殖系统病变患者,总结体会并复习相关文献。结果患者男性,14岁,属于3种分型中的隐性营养不良型。泌尿系统病损重点在前尿道黏膜破损,梗阻累及膀胱及上尿路。通过临时留置导尿管,尿道梗阻缓解,3个月后随访彩超示肾积水改善,20个月后随访积水未加重。结论 EB累及泌尿系统临床罕见。透射电镜检查是原发病最重要的诊断方法。针对原发病目前尚无有效治疗方法。泌尿生殖系统并发症的检查和治疗应尽量减少尿路粘膜破坏,通畅引流,保护肾功能。     

The spectrum of renal involvement in epidermolysis bullosa dystrophica hereditaria: report of two cases

Epidermolysis bullosa dystrophica Hallopeau-Siemens (EBDH) is one of the most severe inherited epidermolyses, a group of mechanobullous dermatological disorders. We observed two patients presenting with a severely multilating type of EBDH who developed biopsy-proven renal disease, which substantially altered the evolution and pathogenesis of their disease. In a boy, chronic postinfectious glomerulonephritis developed, most probably due to recurring superinfections of bullous skin lesions. He also experienced acute oliguric renal failure due to severe diarrhea during exacerbation of EBDH. A female patient developed a nephrotic syndrome due to secondary amyloidosis. Hypoalbuminemia caused further fluid losses through bullous skin lesions, aggravating intravascular hypovolemia and leading to rapid renal failure secondary to bilateral renal vein thrombosis. The study shows that, although rare, renal complications may alter the natural course of EBDH.     

Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature

The coexistence of pyloric atresia (PA) and epidermolysis bullosa (EB) is a rare but well-known surgical emergency in neonates. PA/EB is described by the association of atresia of the pylorus and bullous lesions on the skin. Ninety one cases have been reported in the literature to date. We present two new cases and evaluate the association of PA/ EB, its etiopathogenesis and the clinical properties. Case 1: A three-day-old female presented with nonbilious vomiting and bullous lesions 2-3 cm in diameter on the extremities. Abdominal X-ray showed a single air-fluid level in the left upper quadrant. At laparotomy, we found PA and performed a pyloro-pylorostomy. The patient died due to sepsis complication of EB two months after surgery. Case 2: A two-day-old male presented with severe dermal bullous lesions on the trunk, neck and extremities. His stomach was dilated and there was no gas distally. We found PA and performed gastroduodenostomy. Initially, he tolerated the feeding well, but he died due to severe sepsis on the postoperative 23rd day. Almost all neonates born with the PA/EB result in a fatal outcome in the first few years. The complications related to EB are usually the cause of death. Even after successful repair of PA, skin lesions lead to death due to infection.     

Primary AA type amyloidosis of the urinary bladder: a case report

Primary amyloidosis of the urinary bladder is a rare disease entity. A total of 61 cases have been reported in the Japanese literature, and most of them were AL type amyloidosis. We report here a case of primary AA type amyloidosis. A 52-year-old man presented with a chief complaint of asymptomatic gross hematuria. Cystoscopy revealed yellowish elevated lesions, transurethral mucosal biopsies were performed, and the histopathological diagnosis indicated a primary AA type amyloidosis of the urinary bladder. Systemic amyloidosis was clinically eliminated. The yellowish lesions in the bladder through cystoscopy disappeared spontaneously one year later without any specific treatment, but periodical work-up may be necessary to rule out recurrence of the disease or bladder tumor.     

Effects of indwelling catheters on the urethral mucosa (polypoid urethritis)

Indwelling catheters are almost invariably associated with characteristic mucosal lesions of the urinary bladder, commonly referred to as polypoid cystitis. In the present study, 20 male patients with indwelling catheters (due to benign prostatic hyperplasia) for 1-12 months were studied. Three non-catheter bearing male patients served as controls. Biopsies were taken from the posterior urethra in all patients and from the bladder in 16 of the 20 patients with indwelling catheters. All patients with catheters had endoscopic lesions in the urethra. The lesions varied from polypoid to bullous or oedematous, with or without hemorrhagic discoloration. In 11 of 20 patients the urethral lesions were histologically almost identical to polypoid cystitis. In the remaining 9 patients the reaction was less pronounced, and oedema, with or without mucosal hemorrhage, dominated. Due to the similarity between the catheter associated bladder lesions and the urethral lesions we suggest the term polypoid urethritis for the urethral lesions. There was no correlation between type of catheter used or how long it was used and the mucosal lesions. The results suggest mechanical irritation and/or pressure exerted by the catheter on the mucosa is responsible for the development of polypoid urethritis.     

The urological manifestations of epidermolysis bullosa

Epidermolysis bullosa is a rare skin disorder that may at times involve the respiratory, gastrointestinal and genitourinary systems. We report 3 cases of epidermolysis bullosa involving the urinary tract. The radiographic evaluation of this entity and its relationship to other forms of obstructive uropathy are discussed along with a management plan for patients with genitourinary involvement owing to epidermolysis bullosa.     

Primary lymphoepithelioma-like carcinoma of the urinary bladder: Case report and literature review

A lymphoepithelioma-like carcinoma (LELC) is a rare neoplasm of the urinary bladder. A 71-year-old man presented with gross hematuria for several weeks. On cystoscopy, a solid sessile tumor was observed in the bladder dome. A partial cystectomy was performed. Histopathological findings showed that the lesion was a pure LELC of the urinary bladder. The patient was followed up for 24 months without tumor recurrence. We present the case to highlight the significance of differentiating this rare tumor and discuss the prognosis and treatment options.     

Laparoscopic management of mesh migration into urinary bladder following laparoscopic totally extraperitoneal inguinal hernia repair—A case report

Introduction and importanceMesh migration into urinary bladder is one of the rare complications following inguinal hernia repair (Laparoscopic/Open). On reviewing the literature, erosion of mesh following inguinal hernia repair has been into the urinary bladder in most of the cases, and the erosion may occur as early or late complication. It may occur as a result of improper suturing, inadequate fixation or foreign body reaction. The most common presentation is recurrent urinary tract infection and haematuria and may mimic bladder malignancy.Case presentationA 38-year male presented with recurrent UTI and mimicked to have bladder malignancy on CT scan. On Cystoscopy, mesh along with tackers is visualized within the bladder lumen. A diagnosis of Mesh migration into bladder following laparoscopic inguinal hernia repair was made. The Patient underwent Complete laparoscopic removal of mesh with partial cystectomy, per urethral and suprapubic catheter were placed. The patient made a good recovery without any post-operative complications. On follow-up, Patient underwent Fluoroscopy to look for urinary leakage, and suprapubic catheter removal was done. Patient is asymptomatic on follow-up.Clinical discussionMesh migration into bladder is one the rare complications following laparoscopic hernia repair. Proper preoperative evaluation is necessary to determine whether mesh is free floating in the bladder lumen or adherent to bladder wall. This will help in deciding the surgical technique for route of extraction.ConclusionA case of mesh migration into the bladder can be easily managed by laparoscopic TAPP approach and it is better approach compared to other techniques.     

Kidney diseases in dystrophic epidermolysis bullosa: case report

Dystrophic epidermolysis bullosa is a genetic skin disease of which the recessive subtype also named Hallopeau-Siemens is the most severe. It is due to lack of expression of type VII collagen which is essential for dermal anchoring. Severe obstructive uropathies of the urethral and bladder area may occur during the first years of life, in relation to local bullous activity. As in acquired bullous diseases, glomerular complications may occur in the dystrophic form during the second and third decade. They consist mostly in AA amylosis or mesangial immunoglobuline A glomerulonephritis, in relation to chronic inflammation and repeated cutaneous infections. End stage renal failure occurs in most cases. Only haemodialysis was used as suppletive treatment in four patients for a short period.     

膀胱副神经节瘤

目的：总结膀胱副神经节瘤的临床、病理组织学特征及诊断与治疗方法。方法：报告５例膀胱副神经节瘤诊治情况,并复习有关文献。结果：５例膀胱副神经节瘤中４例为有功能性,１例为非功能性,病理均见肿瘤细胞排列成“细胞球”结构,周边血窦围绕形成器官样结构。３例行肿瘤切除术,２例行膀胱部分切除术,效果满意。结论：膀胱副神经节瘤是膀胱肿瘤中较少见的一种类型,有其特殊的临床表现与病理特点。     

Xanthoma of the Urinary Bladder

Xanthomas of the urinary bladder are rare lesions of reactive nature. They present as yellow-white mucosal plaques that may be mistaken for a neoplastic process. A biopsy displays stromal accumulation of lipid macrophages without accompanying inflammatory component. This article presents a 78-year-old woman who had a tumour-suspect xanthoma of the urinary bladder occurring subsequent to several resections of non-invasive carcinomas.     

Urothelial lesions with inverted growth patterns: histogenesis, molecular genetic findings, differential diagnosis and clinical management

A number of well-recognized urothelial lesions with inverted morphology occur in the urinary bladder. Some are so common that they are considered normal variants of urothelium, whereas others are rare. It is important for the surgical pathologist to recognize these lesions and their overlapping morphological features, because in some cases establishing an accurate diagnosis is challenging. In this article, we review the spectrum of inverted urothelial lesions of the bladder. Emphasis is placed on differential diagnosis, molecular genetic findings, morphology and histogenesis.     

Virtual cystoscopy: the evaluation of bladder lesions with computed tomographic virtual cystoscopy

Purpose

Our objective was to assess the accuracy of computed tomographic virtual cystoscopy (CTVC) in the detection of urinary bladder lesions.

Methods

Twenty-five patients were examined using CTVC. Bladder scanned using multislice CT at a slice thickness of 1 mm. The data were transferred to a workstation for interactive navigation using surface rendering. Findings obtained from CTVC were compared with results from conventional cystoscopy and with pathological findings.

Results

Thirty-eight lesions were identified. The smallest was 0.2 × 0.3 cm; the largest was 7 × 4.5 cm. Both CTVC and conventional cystoscopy were used. Conventional cystoscopy detected the same number of lesions that were detected by CTVC. On morphological examination, 26 of the lesions were polypoid, 7 were sessile and 5 were bladder wall-thickening. While one of the polypoid lesions was reported as an inverted papilloma, 2 of the 5 lesions that were identified as wall-thickening were malignant and 3 were benign. The sensitivity of using CTVC to identify neoplasias was 100%; the accuracy was 89%.

Conclusion

Although the definitive diagnosis of some suspected urinary bladder tumours is only possible with conventional cystoscopy and biopsy, CTVC is a minimally invasive technique which provides beneficial information about urinary bladder lesions.     

原发性膀胱印戒细胞癌1例报告并文献复习

目的：探讨原发性膀胱印戒细胞癌的临床特征。方法：报告1例原发性膀胱印戒细胞癌患者的临床资料。患者因间歇性肉眼血尿就诊,术前检查未找到任何膀胱外病灶,行膀胱全切除术＋输尿管造瘘术。结果：术后病检报告为膀胱印戒细胞癌。患者术后转肿瘤科化疗,目前正在随访中。结论：原发性膀胱SRCC非常罕见,进展快、恶性程度高,局部浸润性生长,有早期扩散转移倾向,预后差。其确诊主要依靠病理组织学检查。     

Unusual bladder masses in children

Benign and malignant bladder masses in children are extremely rare pathologic lesions. The presentation can include gross hematuria, irritable or obstructive voiding symptoms, and urinary infection. We present 2 cases in which large bladder masses suspicious for malignancy were diagnosed as benign lesions. One patient presented with abdominal pain and frequency 2 weeks after a minor bicycle accident and had a bladder wall abscess with sterile urine. Another child presented with gross hematuria and was found to have a giant cystitis glandularis lesion with no precipitating event or infection. The evaluation and differential diagnosis are discussed, and a review of the literature is presented.     

Genitourinary involvement in epidermolysis bullosa: clinical presentations and therapeutic challenges

Study Type – Therapy (case series)
Level of Evidence 4

OBJECTIVES

To present our experience of children with epidermolysis bullosa (EB; a rare bullous disorder of the skin) with genitourinary involvement.

PATIENTS AND METHODS

The medical records of eight children diagnosed with EB (six junctional and two dystrophic type) with genitourinary involvement were reviewed retrospectively. The data collected included age, clinical presentation, ultrasonographic findings, voiding cystourethrography, urodynamic and uroflowmetry studies, and the treatment challenges. The outcomes of the interventions were evaluated every 6 months.

RESULTS

The mean age was 2.3 years (range 1 day to 7 years). The most common clinical presentations were urinary retention and voiding difficulty. Meatomy was performed in two of three boys followed by diminution of urological complaints. In children with vesico‐ureteric reflux, subureteric injections of bulking agent and ureteric stenting were satisfactory. Detrusor instability and bladder compliance improved after α‐blocker therapy. The mean (range) follow‐up was 62.6 (11–120) months except for two who died in early infancy.

CONCLUSIONS

Considering the potential urological involvement in every child with EB it is essential to provide patients with early appropriate treatment. Management of urological problems should preferably be in a way to entail minimal interventions and if required be performed using small sized instruments. Medical therapy seems promising for voiding dysfunction in this subset of patients.     

Indication of cystoscopy in patients with asymptomatic microscopic haematuria

To establish the appropriate indication of cystoscopy in patients with asymptomatic microscopic haematuria, we reviewed 263 cases with positive reaction for urinary dipstick test on annual health screening examination. On initial examination, 18 highly significant lesions, 52 moderately significant lesions and 38 insignificant lesions were detected. No underlying lesion could be found in 96 patients and no microscopic haematuria in 59 patients. However, bladder cancers were detected in only 8 (3.0%) cases. All patients with bladder cancer were older than 40 years. These facts suggest that cystoscopy is not necessary for patients with a single microscopic haematuria and those younger than 40 years.     

Lúpus eritematoso sistêmico bolhoso em gestante: relato de caso*

Systemic lupus erythematosus (SLE) can cause numerous skin lesions. Despite being rare, lupus-specifi c bullous lesions demonstrate characteristic clinical and immunopathological features and require differential diagnosis among numerous bullous conditions that may overlap with SLE. The present study presents a case of bullous systemic lupus erythematosus (BSLE) in a pregnant woman.     

膀胱副神经节瘤五例的临床和影像学特征报告并文献复习

目的总结分析膀胱副神经节瘤的临床和影像学特征。 方法回顾性分析我院2012年12月至2020年7月经手术病理证实的5例膀胱副神经节瘤的患者资料,分析其临床和影像学特征,并进行文献复习。 结果5例患者临床仅1例表现为无明显诱因尿频、尿急、尿痛,余4例均为体检偶然发现。CT、MRI均显示膀胱占位性病变,1例位于肌壁间,椭圆形,表面光滑,4例位于膀胱黏膜下,形态不规则,表面凹凸不平。CT平扫密度偏高、均匀,未见囊变、坏死、钙化,MRI T1WI及T2WI均显示等稍高信号,增强扫描瘤灶明显强化,黏膜下病灶均与邻近膀胱壁分界不清,局部膀胱壁增厚、强化。 结论膀胱副神经节瘤是一种少见的膀胱良性肿瘤,无症状的膀胱副神经节瘤术前常误诊为膀胱癌。正确认识其影像学表现,结合典型临床表现,术前可提示该病的诊断,有助于泌尿外科医师手术方式的选择,避免术中并发症的发生。