Rare Benign Disease Research Articles

Inflammatory Pseudotumor: A 20-Year Single Institutional Experience.

Background: Inflammatory pseudotumor (IPT) is a relatively rare benign disease. The aim of the study was to demonstrate the demographic distribution, clinical presentation, and histomorphological characteristics of IPT while highlighting its associated diagnostic challenges.Materials and Methods: A retrospective cross-sectional review of all the IPT diagnosed in our institution between January 1999 and December 2018 was conducted. The samples were received from within and outside the hospital facility. The demographic data, clinical history, and histologic reports were reviewed.Results: A total of 25 cases of histologically confirmed IPT were seen. Patients' age ranges from 7 to 74 years with a mean age of 38.96 years and standard deviation ± 17.94 years. There was a bimodal peak occurrence in the third and fifth decades. Most of the patients were adults (23, 92%), whereas only 2 (8%) were children. There was a female preponderance with a male-to-female ratio of 1:2.6. The head and neck had the highest number of cases (44%), followed by the gastrointestinal tract (GIT) (40%). Eight (73%) of head and neck cases occurred in the orbit. The presenting complaints depended on the site of the lesion with pain and swelling being the commonest symptoms irrespective of the site of the lesions. Two cases of bilateral IPT were observed. Immunohistochemistry was used in a certain condition of diagnostic dilemma.Conclusion: This study showed a female preponderance of IPT with the head and neck and GIT being the most common location. It is important to rule out other differentials in the diagnosis of IPT.

The dripping candle wax sign of melorheostosis

Melorheostosis is a rare benign bone disease including dysostosis and sclerosis. Dripping candle wax presence is a common and typical sign of melorheostosis. This sign appears as irregular hyperostosis of the cortical bone which is likened to melted wax flowing down one side of a candle. It can sometimes cause pain, stiffness joint, or limitation of motion in the affected areas implicitly but mostly has no symptoms. It is usually observed on plain radiography; its appearance is generally hyperplasia on one side of the bone. We report a 33-year-old male who has an incidental diagnosis of melorheostosis post-trauma.

Eosinophilic gastroenteritis presenting as persistent abdominal pain and ascites: A case report

Eosinophilic gastroenteritis (EGE) is a rare benign inflammatory disease affecting the infant and adult population. It presents by eosinophilic infiltration of the intestinal tract wall including the stomach, small intestines, and rarely the colon. EGE is divided into three subtypes depending on the layers and extent of bowel involved (mucosal, muscular, and serosal). Accurate diagnosis is still considered a challenge to professionals because of the protean manifestations; it needs a combination of clinical, laboratory, radiological, and histological workup. We report here a case of a 35-year-old male with a 3-month history of abdominal pain and distension. On examination, we found mild-to-moderate ascites and peripheral eosinophilia with markedly elevated eosinophils (85%). The imaging studies showed bowel wall thickening involving the entire small bowel and mild duodenitis. The diagnosis was confirmed by duodenal biopsy. The patient was managed with steroids (prednisolone 40 mg) and had an excellent response to the treatment. There is no single laboratory test or procedure to diagnose EGE; it requires a combination of laboratory, radiologic, and endoscopic findings. This report will guide decision-making for the initial phase of treatment and maintenance therapy in a more consistent way.

Rosai–Dorfman disease presenting in a child as mediastinal lymphadenopathy

Rosai- Dorfman disease (RDD) or Sinus Histiocytosis with massive lymphadenopathy (SHML) is a rare benign disease with infiltration of lymph nodes or extranodal sites by non malignant histiocytes. It generally presents with fever, painless cervical lymphadenopathy and eleveated inflammaotory markers. Sometimes, it may be associated with night sweats and weight loss mimicking lymphoma. Forty per cent, present with extra nodal manifestations and 10 % have systemic involvement. Though the disease has a predilection for lymph nodes in head and neck region, it can affect any organ. The common extra nodal sites are skin and soft tissue, central nervous system, upper respiratory tract and gastrointestinal tract. Immune dysfunction and viral infections like HPV 6, EBV, parvo virus B19 are reported to be associated with the disease. RDD typically occurs in childhood and early adulthood. Histologially, characteristic finding of emperipolesis is seen. Diagnois is confirmed by Immunohistochemistry with S100 and CD68 positivity. Most of them do not require treatment as it is usually self-limiting. Steroids, surgery, chemotherapy and radiotherapy are considered in refractory disease with systemic involvement or vital organ involvement. We report a case of 4 year old boy who presented with massive bilateral cervical and mediastinal lymphadenopapthy and had complaints of breathing difficulty while lying down since last 3 months. Biopsy was confirmative of Rosai-Dorfman disease and he had a near complete response after 3 months of steroids and is symptom free for the past 1 year.

THE IMPORTANCE OF DIFFERENTIAL DIAGNOSIS IN CASES OF NECROTIZING SIALOMETAPLASIA: A CASE REPORT

Necrotizing sialometaplasia (NS) is a rare benign disease characterized by a reactionary inflammatory process of salivary glands, which may mimic malignancy, creating diagnostic dilemma leading to unwarranted aggressive treatment. On the present report, a 51-year-old male patient without comorbidities who was a casual alcoholic and smoker for over 25 years sought care with complaint of a painful wound on the palate for 15 days. Intraoral examination revealed an ulcerated wound localized in the transition between hard and soft palate, measuring 2.5 cm, and rounded with friable necrotic tissue and well delimitated elevated borders. The initial diagnostic hypothesis was squamous cell carcinoma. Incisional biopsy was performed, and the histopathologic analysis revealed mixed inflammatory process, ulcerated, involving minor salivary glands with focus of squamous metaplasia. The final diagnosis was NS. The treatment was the quitting of smoking and monitoring of the case. After 60 days, there was regression of the wound compatible with cure.

Leiomyomatosis Peritonealis Disseminata: A Clinical Analysis of 13 Cases and Literature Review.

Objective. Leiomyomatosis peritonealis disseminata (LPD) is a rare benign disease that is characterized by numerous small muscle nodules disseminated in the abdominal and pelvic cavity. This study analyzed the clinical features, pathologic characteristics, and prognosis of LPD. Methods. We retrospectively analyzed the clinical data of 13 patients with pathologically diagnosed LPD in Shengjing Hospital of China Medical University from January 2001 to January 2018. Results. Overall, 13 cases were collected. The mean age of the 13 patients was 42.23 years (range = 26-51 years). In all 13 female patients, 11 had a surgical history related to uterine leiomyoma, and only 2 had no history of treatment. Most of them were asymptomatic. Thirteen patients underwent resections of the tumors by laparoscopy or laparotomy. Pathological reports of 13 cases indicated LPD. Twelve cases were followed up, and 1 case was lost to follow-up. The median follow-up time was 65.67 months, and 2 patients showed evidence of recurrence. Conclusions. LPD is a rare disease in women of reproductive age. LPD manifests atypical symptoms, which can be easily misdiagnosed and confirmed by the pathological diagnosis. Surgery is the main treatment. Although LPD is a benign disease, a few patients had a tendency for recurrence or malignancy. Therefore, strict follow-up is needed.

1438 A Starry Sky Liver: Klebsiella Pneumoniae Septic Shock Caused by Infected Multiple Biliary Hamartomas

INTRODUCTION: Biliary hamartomas or von Meyenburg complexes are an exceedingly rare benign cystic disease of the liver. They are diagnosed radiographically due to a distinct appearance. We present an unusual case of a patient presenting with septic shock from multiple infected biliary hamartoma cysts. CASE DESCRIPTION/METHODS: A 52-y/o caucasian female presented to the emergency department with 20 pounds of unintentional weight loss over 3 months, painless jaundice, rigors and worsening altered mental status. Medical history included: Down's syndrome with progressive dementia, depression, and hypothyroidism. Physical exam notable for hypotension, fever, and tachycardia. Laboratory evaluation illustrated a leukocytosis of 10.9, total bilirubin of 7.6, direct bilirubin 6.1, alkaline phosphatase 926, ALT 44, AST 71, INR 2.3. An abdominal ultrasound revealed numerous hepatic cysts without cholelithiasis. MRCP confirmed innumerable uniform hepatic cysts without connection to the biliary tree consistent with multiple biliary hamartomas. The hepatic cysts lacked mural nodules. She was treated for presumed septic shock from ascending cholangitis with empiric IV antibiotics and vasopressors. With continued supportive care, her liver enzymes and coagulopathy normalized. Blood cultures grew Klebsiella pneumoniae. Her septic shock resulted from cholangitis due to infected biliary hamartomas. She discharged after 7 days in healthy condition. DISCUSSION: Multiple biliary hamartomas (MBH) are rare, benign lesions of the liver. They occur roughly 0.6-2.8% of the general population. Multiple biliary hamartomas are thought to arise from ductal plate malformations involving the small interlobular bile ducts. The cysts are typically uniform in size and most are asymptomatic found incidentally on imaging. MBH are associated with autosomal polycystic kidney disease, hepatic fibrosis, and polycystic liver disease. Gold standard for diagnosis of MBH is MRCP. It depicts striking stereotypical multiple T2 hyper-intense cystic lesions distributed homogeneously within the liver without communication to the bile ducts. Differential diagnosis for this imaging appearance includes metastasis, simple liver cysts, liver cancer, biliary adenomas, and Caroli's disease. Albeit unclear, MBH may be a risk factor for cholangiocarcinoma. This case highlights a peculiar case of biliary septic shock caused by infected liver biliary hamartomas.

Disseminated peritoneal leiomyomatosis following laparoscopic myomectomy: a case report

Disseminated peritoneal leiomyomatosis (DPL) is a rare benign disease characterized by tumors derived from smooth muscles throughout the abdominal cavity. DPL has been reported following laparoscopic myomectomy or hysterectomy; however, few reports have described DPL after abdominal myomectomy or hysterectomy. In the present case, two intra-abdominal masses were incidentally discovered on imaging during a routine medical checkup of a 45-year-old woman who had undergone laparoscopic uterine myomectomy 10 years previously. The masses were later found to be near the ascending colon and between the liver and right kidney. A malignancy or stromal tumor was suspected, and the patient underwent exploratory surgery. Histopathologic examination revealed that the masses were leiomyomas. Considering the patient’s history of gynecologic surgery, we believe that this was a rare case of DPL following laparoscopic uterine myomectomy.

Use of injectable platelet‐rich fibrin in the treatment of plasma cell mucositis of the oral cavity refractory to corticosteroid therapy: A case report

Plasma cell mucositis (PCM) is a rare benign disease affecting adults characterized by an erythematous mucosa, an epithelial hyperplasia, and a dense submucosal infiltration of mainly mature plasma cells. PCM has been treated with topical, intralesional, and systemic corticosteroids, antibiotics, and topical cyclosporin with unreliable results and questionable benefits. Here, we present a case of PCM, refractory to previous treatments, treated with i-PRF (injectable platelet-rich fibrin) injections. The infiltrations were performed once a week for 2 months. There were no adverse reactions to the treatment. The pain gradually reduced until the score of zero at the fourth infiltration, and the patient remained free of pain during the whole study period. Clinically, we did not obtain a complete healing of the lesion, but a reduced perilesional inflammatory infiltrate was observed at a distance. Therefore, we can conclude that i-PRF has been effective in the management of pain in PMC but does not result in complete healing of the disease.

Short-Term Outcomes of Synovectomy and Total Knee Replacement in Patients with Diffuse-Type Pigmented Villonodular Synovitis.

Diffuse-type pigmented villonodular synovitis is a rare benign disease that causes disorders of the knee, including erosion of subchondral bone and cyst formation, with eventual osteoarthritis. The purpose of this study was to evaluate the short-term outcomes of synovectomy and total knee replacement in patients with the diffuse type of pigmented villonodular synovitis. From November 2011 to May 2015, we performed synovectomy and total knee replacement in 28 patients with diffuse pigmented villonodular synovitis diagnosed on the basis of histopathology of biopsy specimens. Clinical data were collected perioperatively and during follow-up for evaluation of surgical efficacy. No intraoperative complications were encountered. Mean operative duration was 73.4 minutes (range: 47-115 minutes); mean estimated blood loss was 223.9 mL (range: 50-600 mL). The mean duration of follow-up was 58.7 months (range: 36-84 months). Mean range of motion improved from 86.1 ± 11.3 degrees (range: 60-100 degrees) to 107 ± 11.4 degrees (range: 90-130 degrees). Average Knee Society clinical scores improved from 38.9 ± 9.5 (range: 17-54) to 84.4 ± 6.1 (range: 75-98); functional scores improved from 48.9 ± 13.1 (range: 25-80) to 84.6 ± 6.1 (range: 75-95; p < 0.05 for both). Postoperative radiographs showed no signs of prosthesis loosening, periprosthetic fractures, or dislocation. The short-term efficacy of synovectomy and total knee replacement in treating patients with diffuse pigmented villonodular synovitis was satisfactory.

Brain ectopic tissue in sacrococcygeal region of a child, clinically mimicking sacrococcygeal teratoma: a case report

BackgroundMature brain heterotopic tissue in sacrococcygeal region is a very rare benign congenital abnormality of newborn. To date, only two cases of mature heterotopic brain tissue in the sacrococcygeal region is reported by literature. Heterotopic brain tissue in other areas such as lung, nose, face and retroperitoneal region are also rarely reported. Meanwhile, rather than brain heterotopic tissue in sacrococcygeal region, a case of adrenal gland heterotopic tissue in sacrococcygeal region also has been reported.Case presentationA 3.5 month-old male baby presented with history of sacrococcygeal mass since birth. Clinical examination of the child was good with no other problem. Sacrococcygeal region revealed an elevated round mass with no discharge. Computed tomography reported a large sacrococcygeal teratoma type-III arising from the sacrococcygeal region extending intra-abdominally to the level of L2 vertebral body. The mass was excised by the impression of sacrococcygeal teratoma (SCT). On gross examination, a gray-white irregular tissue fragment with 5 cm in greatest dimension was examined. Cut sections showed homogenous yellowish white appearance. Histological examination revealed solid fragments composed of mature neural tissue comprising glial cells and astrocytes with no other germ cell layer component.ConclusionMature brain heterotopic tissue in sacrococcygeal area is a rare benign disease. Two ectopic brain tissue in sacrococcygeal region were previously also reported. Sacrococcygeal teratoma is the most common congenital tumor, but this current rare case of heterotopic brain tissue in sacrococcygeal region should also be in the differential diagnosis.

Hepatic adenoma: indications for minimally invasive resection

Hepatic adenoma (HA) is a rare benign disease. Only selected patients require a liver resection: all male patients; female patients with a progressively enlarging nodule or HA >5 cm or β-catenin mutated tumors (especially if β-catenin mutated HA exon 3); symptomatic patients. We performed a review of the literature to analyze the indications and the results of a laparoscopic resection in patients with HA. The number of minimally invasive resections performed for HA reported in the literature has progressively increased in the most recent years. Laparoscopic resection of HA is safe and feasible and carries the same advantages of minimally invasive liver surgery for other diseases. The minimally invasive approach is standard for HA requiring limited resection of antero-lateral segments or left lateral sectionectomy. Laparoscopic complex resections for HA have been reported, but they are still under evaluation and should be reserved to high-volume centers with adequate expertise. A three-step decisional process should be respected. The surgeon should evaluate: firstly, if the patient needs surgery; secondly, which resection is appropriate; thirdly, if a laparoscopic approach is suitable in his/her center. The possibility to perform a laparoscopic resection for HA should not widen indications or modify surgical strategy. Furthermore, the surgeon’s awareness of his/her expertise and learning curve and that of the entire teams’ capabilities is paramount to increase patient safety and optimize outcomes.

&lt;p&gt;Resection as first-line therapy for large hepatic sclerosing hemangioma: a case report&lt;/p&gt;

Hepatic sclerosing hemangioma is a rare benign disease that occurs in association with hepatic cavernous hemangioma degeneration and sclerosis. Recent studies have shown that radiofrequency (RF) ablation is an alternative treatment for hepatic cavernous hemangiomas, even for large hemangiomas (≥10 cm). However, RF ablation might not be suitable to treat large sclerosing hemangiomas. We herein report the successful surgical removal of a large hepatic sclerosing hemangioma after RF ablation treatment failure in a 65-year-old man. In conclusion, we suggest that resection should be chosen as a first-line therapy for the disease.

Idiopathic granulomatous mastitis: A systematic review of 3060 patients.

Idiopathic granulomatous mastitis is a rare benign breast disease. A systematic review was designed. Clinical and therapeutic characteristics were analyzed. Human Development Index (HDI) was used to define two groups of study: group A (very high and high HDI) and group B (medium and low HDI). Corticosteroid therapy was done in 69% group A and 78% group B. Surgery was done in 63% in group A and 83% in group B. Antibiotics were used in 68% group A and 88% group B. There is no consensus about optimal treatment for granulomatous mastitis.

Imaging features of granulomatous mastitis in 36 patients with new sonographic signs.

Idiopathic granulomatous mastitis is a rare relapsing benign inflammatory breast disease with unknown etiology. Its clinical features and imaging signs may mimic inflammatory breast cancer or some other inflammatory breast disease. This may interfere with correct and timely diagnosis and thus impose an additional burden on the costs of diagnosis and therapy, as well as patient anxiety. We aimed to characterize the imaging findings of this disease and introduce two new imaging signs. This prospective study examined 36 patients with imaging and a clinical diagnosis of mastitis granulomatosis who were untreated and then confirmed by pathology. Demographic information, clinical data, imaging findings, and signs were recorded. The age range of the patients was 22-60years with an average of 36years. Most of the patients (78%) were at reproductive age. None of the patients had a family history of granulomatous mastitis. Most patients with granulomatous mastitis (89%) lived in regions with low socioeconomic status. For most patients, sonography indicated a heterogeneous hypoechoic mass with irregular shape and ill-defined margin (26 cases; 72.2%). Focal asymmetry (36%) and obscured mass (36%) were the most common mammographic findings. Two signs of duct ectasia containing secretion and high-flow pseudocyst appearance were described. Mammographic and ultrasound findings can highly suggest a diagnosis of granulomatous mastitis in an appropriate clinical context.

Disseminated Peritoneal Leiomyomatosis Masquerading as Peritoneal Carcinomatosis

Abstract Background: Disseminated peritoneal leiomyomatosis (DPL), also known as leiomyomatosis peritonealis disseminata, is a rare benign disease characterized by the presence of multiple leiomyom...

Pulmonary nodular lymphoid hyperplasia: a rare benign disease with malignant mask.

Pulmonary nodular lymphoid hyperplasia (PNLH) is a rare benign disease lacking systematically clinical assessment. This study aims to explore the clinical features of PNLH and evaluate the safety and efficacy of different surgical approaches for PNLH. Patients with confirmed PNLH in our department between March 2007 and August 2017 were retrospectively reviewed. The detail information of patients, including demographic characteristics, medical history, preoperative investigations, perioperative findings, postoperative conditions, and recurrence status, was collected and analyzed. A total of 67 patients with PNLH were diagnosed in our department, and 15 of them were suspected to have lung cancer by radiological examination before the surgery. 43 of 67 patients underwent sublobar resection and 24 patients underwent lobectomy. Compared with the lobectomy, sublobar resection showed more significant advantages in operation time (P<0.001), blood loss (P=0.001), volume of chest drainage (P=0.007), duration of chest drainage (P=0.001) and postoperative hospital stay (P=0.001). The diagnosis of PNLH before operation is challenging and it should be taken into consideration in the differential diagnosis of lung nodules. Compared with lobectomy, sublobar resection is an alternative approach for the treatment of PNLH.

Superior mesenteric artery syndrome coexists with Nutcracker syndrome in a female: a case report

BackgroundSuperior mesenteric artery (SMA) syndrome, also known as Wilkie’s syndrome or Benign duodenal stasis, is a rare benign disease. It could threaten the life if the manifestation is severe and the treatment is inappropriate. In the patients with SMA syndrome, the third portion (transverse part) of the duodenum is compressed externally between the SMA and abdominal aorta (AA) leading to duodenal stasis and gastrointestinal obstruction. SMA syndrome may rarely combine with Nutcracker syndrome when left renal vein (LRV) was compressed between SMA and AA.Case presentationA 32-year-old female patient presented with complaints of gradually severe bloating, epigastric pain, left flank ache, nausea and occasional vomiting of 1 month’s duration. The epigastric and left flank ache was aggravated when the patient was supine and relieved in a prone or left lateral decubitus. The abdominal bloating was associated with early satiety. The vomiting always started 40 min after meal. The patient gave a history of urine stone with drotaverine hydrochloride tablets treatment for two weeks before the gastrointestinal symptoms arising. The patient had no significant surgical history, but had a rapid weight loss of approximately 10 kg with a body mass index (BMI) from 21 kg/m2 to less than 18 kg/m2 over the last two months. An abdominal examination revealed upper abdominal tenderness and distention. The urine routine examination showed no significant abnormality. The findings of initial blood tests and other laboratory investigations were unremarkable.ConclusionsThis case reports a female patient with SMA syndrome with Nutcracker syndrome predisposed by Antispasmodics. We highlight the importance of the combination therapy of long-term nutritional supporting and prokinetic agents. Rehabilitating practice after discharge is beneficial to reduce recurrence.

Inflammatory pseudotumor of urinary bladder: A masquerader of bladder malignancy

Inflammatory pseudotumor of urinary bladder is a rare benign disease of unknown etiology, characterized by nonneoplastic proliferation of fibroblastic spindle cells, in a background of myxoid and granulation tissue. We report a case of an inflammatory pseudotumor of urinary bladder and discuss the important differentials. A 47-year-old woman presented with longstanding frequency and urgency of micturition. Ultrasound pelvis, color Doppler, computed tomography, and magnetic resonance imaging were performed. Focal bladder wall thickening at the dome was observed. In addition, there was a heterogeneous solid cystic intramural lesion within this bladder wall thickening showing peripheral rim enhancement with nonenhancing central component. Repeated urine cultures were sterile and urine cytology was found to be negative for malignancy. Finally, histopathology and immunohistochemistry confirmed this lesion to be inflammatory pseudotumor.

Pulmonary tuberculosis occurred in patient with Tracheobronchopathia Osteochondroplastica

Tracheobronchopathia osteoplastica (TO) is a rare benign disease in which the anterior inner wall of the tracheobronchus changes because of abnormal chondrogenesis or ossification, while the posterior wall of the trachea is spared. The etiology is not clearly understood, but may relate with chronic infection, inflammation, and trauma. In some case studies, it has also been reported to be accompanied by other chronic diseases such as atrophic rhinitis and amyloidosis. However, Coexistence of TO and tuberculosis has rarely been reported, and has never been reported in Korea. Here, we report a case of a 70-year-old male patient who complained of hemoptysis and whose case was diagnosed as TO and pulmonary tuberculosis through bronchoscopy with bronchial washing and biopsy.