Rare Benign Disease Research Articles

Intramural pseudodiverticulosis of the esophagus. Clinical aspects, morphologic changes and functional disorders

Oesophageal intramural pseudodiverticulosis, a rare benign disease with as yet unexplained aetiology, was observed in 4 patients during the course of 2 years. The main symptom is dysphagia. Radiographic and endoscopically detectable diverticula or diverticular orifices are pathognomonic. A prolongation in the duration of oesophageal contractions is the main manometric finding. At autopsy, a reduction in the number of oesophageal intramural ganglion cells was seen in one case. A prolonged pressure-effect on the oesophageal wall could be the cause of the wall pouches.

Liver adenomatosis: re‐evaluation of aetiology and management

Liver adenomatosis (LA) is a rare benign parenchymal liver disease with unknown aetiology. In recent reports, LA has been associated with hepatic steatosis, with potential implications for the management of this disease. The aim of this study was to determine prognosis and optimal management of patients with LA. Clinical presentation, diagnostic studies and management of patients with LA were analysed in our centre. Furthermore, a Medline search of all published case reports and series of LA patients was performed. Ninety-four patients with LA have been reported in the literature. Fifty-two per cent of females had a history of oral contraceptive use. Eighteen per cent of patients had steatosis in nontumoral tissue. In our own series, five of six patients had histologically confirmed steatosis. Forty-three per cent of patients presented with acute pain, of whom 46% had a haemorrhagical complication, in contrast to 2% of nonsymptomatic patients. Tumours <5 cm tended to increase in size during follow-up and only in four patients tumour regression was observed. Liver adenomatosis is a progressive, benign parenchymal disease mainly occurring in females. There is a potential link with hepatic steatosis with implications for the management of patients with LA. Noninvasive diagnosis is difficult because of the variety of tumoral and nontumoral components. Management should primarily be conservative.

Kikuchi-Fujimoto's Disease with Adult Onset Still's Disease

Kikuchi-Fujimoto’s disease (KFD), or histiocytic necrotizing lymphadenitis, is a rare benign and self-limiting disease. KFD are confused with systemic autoimmune disease as they present with localized lymphadenopathy, fever, fatigue, arthritis, leukopenia. Furthermore as KFD can occur associated with other autoimmune disease, we need to diagnose carefully. Here, we describe a case of 27-year-old female patient, diagnosed as KFD, who subsequently developed adult onset Still’s disesase (AOSD). As far as we know, this is the first case of KFD with AOSD in Korea.

Die chronisch-rezidivierende multifokale Osteomyelitis und die tumoröse Kalzinose - assoziierte Erkrankungen?

Idiopathic tumorous calcinosis is a rare benign disease of the periarticular tissue near large joints. Deposits of hydroxyapatite in single or multiple pseudocysts lead to consecutive pain or complaints by attaching the surrounding tissues. The etiology of this disease is not definitively clear. We describe the case of an 11-year-old turkish girl with a well known chronic recurrent multifocal osteomyelitis (CRMO) and hyperphosphataemia. Furthermore, she developed a tumorous calcinosis around the left hip, which recurred after surgery, and around the ankle joint. CRMO and tumorous calcinosis can be associated diseases. The development of tumorous calcinosis in patients with CRMO and hyperphosphataemia should be excluded.

Mastitis granulomatosa lobulillar idiopática

We present a case of idiopathic granulomatous lobular mastitis, which is a rare benign disease of the breast. This entity should be taken into account in patients with a breast lump, because it can mimic carcinoma of the breast. Tissue biopsy is the gold standard to confirm the diagnosis, while various options are available for treatment.

Chronic Idiopathic Granulomatous Mastitis

We describe four women with idiopathic granulomatous mastitis, a rare benign disease. Age range was 32-40 years. Disease duration was less than 1 year in three patients and long term in the fourth. The diagnosis was based on histological findings, after extensive workup ruled out malignancy and known causes of granulomatous mastitis. Treatment with prednisone with gradual tapering yielded a good response. Clinicians should consider the possibility of idiopathic granulomatous mastitis in young women with inflammatory breast processes and negative findings on relevant biopsy, laboratory, and imaging studies. Glucocorticoids are the treatment of choice; surgery is not recommended. Some patients require a glucocorticoid-sparing drug.

Idiopathic Granulomatous Mastitis: A Heterogeneous Disease with Variable Clinical Presentation

Idiopathic granulomatous mastitis (IGM) is a rare benign inflammatory breast disease that presents with variable local manifestations. We describe here the different management protocols based on the clinical presentation of these patients. A retrospective review of 20 histopathologic confirmed cases of IGM seen over a period of 10 years was performed. The median age was 34 years (age range: 21-45 years). All were married, parous with history of breast feeding. Ill-defined mass mimicking carcinoma was the commonest presentation (70%); however, with the presence of signs of inflammation like pain (55%), redness (40%), and peau d'orange (40%), an inflammatory process appeared more likely. Axillary lymph node enlargement was infrequently seen (40%). Radiologic findings (mammography and ultrasound) were nonspecific. Histopathology showed the characteristic lobular distribution of granulomatous inflammation in all cases. Surgically, 7 patients had abscess drainage with open biopsy, and 7 patients had lumpectomy. Six patients with diffuse breast involvement were diagnosed by core needle biopsy only. Microbial cultures showed no growth. Antibiotics were given empirically when signs of inflammation where present. Two patients needed further abscess drainage followed by persistent sinus excision 3-6 weeks later. The median follow-up was 24 months (range: 15-42 months). Seventeen patients (85%) were recurrence-free, and 3 patients (15%) were lost to follow-up. Management of IGM cases needs to be tailored according to the clinical presentation. Precise radiologic and pathologic data interpretation by a multidisciplinary breast team will facilitate diagnosis and minimize unnecessary intervention.

Eosinophilic Gastroenteritis: A Review

Eosinophilic gastroenteritis is a rare benign disease characterized by tissue eosinophilic infiltration that may involve several digestive tract layers. Also known as allergic, or eosinophilic allergic, gastroenteropathy, it usually involves the stomach and small intestine: rarely the colon. It may or may not be accompanied by higher counts of eosinophils in the peripheral blood. The main clinical manifestations depend on the site affected. It has been classified according to clinical and pathological features, and the symptoms depend on the patient's immunological response to several cytokines released by eosinophils. Because of lack of understanding of the etiology and triggering factors, treatment is based mainly on corticosteroids; although other drugs acting on the immune system have been tested, the results are not always satisfactory. This review focuses on the epidemiology, pathophysiology, clinical features, and treatment of this hitherto under-diagnosed disease.

Xanthogranulomatous cystitis

Xanthogranulomatous cystitis (XC) is a rare benign chronic inflammatory disease of unknown etiology. We report a patient of XC managed with long-term antibiotics and augmentation cystoplasty. A 50-year-old man presented with urgency, frequency, hematuria and lower abdominal pain. Investigations revealed small capacity bladder with diverticula and cystoscopy showed inflamed bladder with multiple small polypoidal growth that had histological findings suggestive of XC on biopsy. Patient was treated with augmentation cystoplasty and prolonged administration of broad-spectrum antibiotics. Postoperative course was uneventful and patient remains asymptomatic at 1-year follow-up. XC is rare entity of unknown etiology. Patients may be given a trial of long-term broad-spectrum antibiotics.

Successful treatment of generalized eruptive histiocytoma with PUVA

Generalized eruptive histiocytoma (GEH) is a rare benign skin disease mainly affecting adults which belongs to the family of non-Langerhans-cell histiocytoses. A 32-year-old Caucasian woman developed disseminated, monomorphic papules of the trunk after a common cold with sinusitis. Mucous membranes, palms and soles were spared. She also suffered from arthralgia without fever or night sweats. After one month, the patient noticed progression of the reddish papules involving the trunk, extremities and face. Clinical as well as histological examination and immunohistochemistry led to the diagnosis of GEH. The clinical examination and laboratory testing were normal, except for eosinophilia in the peripheral blood and bone marrow. No neoplastic diseases were found during thorough examinations. Systemic PUVA therapy produced rapid regression of the skin lesions. After 10 treatments the lesions began to regress leaving slight papules and multiple brown hyperpigmentations. The lesions resolved completely after 20 PUVA treatments. No relapses occurred. Systemic PUVA therapy represents a promising option for the treatment of GEH.

Extended tracheal resection for chondroma

We report a case of a 43-year-old man who underwent an extended resection of the lower trachea for primary chondroma. Tracheal chondroma is a rare benign disease, arising from the cartilaginous rings, that grows intra-luminally or extends through the tracheal wall determining an obstructing syndrome. The endoscopy may be useful for diagnosis and palliative treatment, but the tracheal resection is recommended because the risk of recurrence or malignant transformation.

Totally laparoscopic management of choledochal cysts using a four-hole method

Choledochal cyst is a rare benign disease of the biliary tract. However, once diagnosed, it must be excised with the gallbladder because of the risk for cancer developing in the biliary tree, including the gallbladder. This report introduces a new surgical technique for totally laparoscopic excision of choledochal cyst and hepaticojejunostomy using a four-hole method. Between October 2003 and May 2005, the authors performed totally laparoscopic choledochal cyst excision for 12 patients. All the patients except one were women, and the mean age was 37.3 years (range, 17-62 years). According to the Todani classification, there were five type Ia cases, four type Ic cases, and three type IV cases. Choledochal cyst excision and Roux-en-Y hepaticojejunostomy were performed laparoscopically using the four-port technique. The mean operation time was 228 min (range, 150-330 min). No operative or postoperative transfusion was required. An oral diet was started on postoperative day 3. The average length of hospital stay was 5.8 days. There was no major complication associated with anastomosis leakage or obstruction. No patient had an adverse response, as determined by clinical or laboratory evaluation during a 2- to 19-month follow-up period. Considering that choledochal cyst is common among young women, who are especially interested in cosmetic results in addition to complete resolution of medical problems, the laparoscopic management of choledochal cyst may be an attractive treatment option.

Prise en charge de la synovite villonodulaire hémopigmentée du genou et de ses récidives: À partir d’une série rétrospective de 28 cas

Purpose of the study The objective of this retrospective study was to analyze clinical observations in pigmented villonodular synovitis (PVNS) of the knee as well as response to treatment in order to better define the diagnostic approach and surgical treatment and follow-up of this rare benign proliferative disease of the synovial observed primarily in the knee joint. Material and methods Twenty-eight patients (13 men and 15 women) were treated for PVNS in our unit between 1996 and 2004. Twenty patients had diffuse disease and eight localized disease. In the localized forms, symptoms mimicked those provoked by intra-articular foreign bodies or meniscal tears (n = 6) and had been present for 14 months on average at first consultation. Mean age at treatment onset was 40 years (range 20-62). Arthroscopic or open surgery was used for resection. In the diffuse forms, symptoms had begun 15 months on average before first consultation and were mainly spontaneous hemarthrosis or diffuse non-specific knee pain. Mean age at treatment onset was 38 years (range 15-59). Bone lesions were observed in four patients. Synoviorthesis or surgical synovectomy were performed. Mean follow-up was 97 months (range 12-309). Outcome was compared between the different aspects of localized and diffuse PVNS and treatment modalities. Results In the localized forms, there were no complications after surgical treatment and there were no cases of recurrence (one surgical revision at four months following incomplete resection). For the diffuse forms, the cumulative recurrence rate was 50%. Mean time to recurrence was 37 months. Three patients developed a stiff knee after open synovectomy. Surgical treatment was required in four patients seen late after development of bony lesions (total knee arthroplasty in three). Clinical outcome was good with a gain in knee flexion. Discussion MRI is essential for the topographic diagnosis and to guide surgical treatment. In severe or advanced primary diffuse di-sease or in the event of local recurrence, adjuvant synoviorthesis can be proposed four to eight weeks after initial surgery. The risk of recurrence for diffuse forms warrants an annual MRI for the first four years.

Pulmonary spread of laryngeal papillomatosis: radiological findings

Laryngeal papillomatosis is a rare benign disease seen in children and young adults. The spread of laryngeal papillomas throughout the respiratory tract occurs rarely; and involvement of the distal bronchi, bronchioles, and lung parenchyma is very rare. We report a case of pulmonary spread of laryngeal papillomatosis in a 34-year-old man, focusing on the radiological evidence. Chest radiographs showed pulmonary nodules, but computed tomography scans more clearly demonstrated multiple small nodules showing cavitations and distributed centrilobularly. Pulmonary nodules and cavitations progressed gradually through the 6-year follow-up. The combination of clinical and characteristic radiological features suggests a diagnosis of pulmonary spread of laryngeal papillomatosis.

Granulomatous mastitis: surgical outcomes.

To report the clinical and pathological features and surgical treatment outcomes of patients with granulomatous mastitis. Case series. Ankara Oncology Training and Research Hospital, between 1999-2003. Data of 16 patients with granulomatous mastitis treated surgically by total excision with disease-free margins were reviewed. Patients given additional medical therapy or treated with mastectomy because of the size and extent of the disease were excluded. The mean age of patients at the time of diagnosis was 31.8 (range: 22-45 years). All patients were diagnosed from the pathological tissue specimens obtained by surgery. Clinical and radiological examinations suggested breast carcinoma in 82.1% patients. Except one patient who developed a fistula from the incision which was treated again with surgery, no other complications were noted, including recurrence of disease during a median follow-up period of 12.8 months (range: 4-30 months). Although granulomatous mastitis is a rare benign breast disease, it usually mimics breast carcinoma both clinically and radiologically, making the diagnosis difficult and challenging. As long as good cosmetic results can be achieved, surgical excision is quick, safe and effective treatment method for idiopathic granulomatous mastitis.

Xanthogranulomatous orchitis in an adult Nigerian

Xanthogranulomatous orchitis (XGO) is a rare benign disease of the testis which has not been previously documented in tropical Africa. We report a case of a 24-year-old Nigerian man who presented with a painless left hemiscrotal swelling. Our clinical diagnosis was left testicular cancer. Testicular tumor markers were normal. At surgical exploration, we found a left testicular tumor. Histopathological examination of the specimen showed XGO of the left testis. He had left radical orchiectomy and left inguinal node dissection. He has remained stable 8 months after the treatment. Xanthogranulomatous orchitis cannot be distinguished clinically from testicular cancer unless by histopathological examination. Orchiectomy is the treatment of choice. However, in all patients and particularly young patients and those with a single testis, histopathological confirmation is suggested to avoid unnecessary radical orchiectomy, useless irradiation and ill-timed chemotherapy.

CT and MR Imaging Findings of Subdural Dermoid Cyst Extending into the Right Foramen Ovale: A Case Report

Intracranial dermoid cyst is a rare congenital benign disease, representing less than 0.5% of primary brain tumors. Nevertheless, if ruptured spontaneously or during surgery, it has a poor prognosis due to chemical meningitis. Therefore, it is essential to perform accurate diagnosis and proper treatment. We report an intracranial subdural dermoid cyst that may be misdiagnosed as extracranial or epidural lesion because of extension into the right foramen ovale, and describe the CT and MR imaging findings.

The Role of Conservative Treatment in Idiopathic Granulomatous Mastitis

Idiopathic granulomatous mastitis (IGM) is a rare benign inflammatory disease of the breast that mimics carcinoma of the breast. Its etiology and treatment remain unclear. A retrospective review of nine women with histopathologic diagnosis of IGM was performed. The women had a mean follow-up of 18.7 months and a mean age of 45.7 years (range 32-83 years). The main presentation was breast mass (100%). Clinically and radiologically, 55.6% of the women were suspected to have malignancy. One patient was treated with lumpectomy without recurrence. Eight patients were treated with expectant management with close regular surveillance. No surgery was performed and no medications were given. Fifty percent of the patients had spontaneous complete resolution of disease after a mean interval of 14.5 months. These four patients had no recurrence. Fifty percent of patients had static disease. In conclusion, it is important to differentiate IGM from carcinoma of the breast. Tissue biopsy remains the gold standard to confirm the diagnosis. Expectant management with close regular surveillance is the treatment of choice.

Computed tomography diagnosis of tracheobronchopathia osteochondroplastica

Tracheobronchopathia osteochondroplastica (TO) is a rare benign disease characterized by the presence of osseous and cartilaginous submucosal nodules projecting into the tracheobronchial tree. Most cases are asymptomatic and discovered incidentally at post-mortem. We identified a case of TO on thoracic spiral CT and confirmed the diagnosis of bronchoscopy. This article reviews the imaging characteristics of TO, and shows the 3-D virtual bronchoscopic and multiplanar reconstruction appearances of TO.

Facial asymmetry with nasal and orbital involvement in a case of sinus histiocytosis with massive lymphadenopathy (Rosai–Dorfman disease)

Sinus histiocytosis with massive lymphadenopathy or "Rosai-Dorfman"s syndrome is a rare benign disease of unknown etiology, usually seen in younger patients. A 12-year-old boy of the disease presented with facial asymmetry, massive lymphadenopathy, nasal and orbital manifestation is reported. Diagnosis was performed by superficial lymph node biopsy. No immunodeficiency was found. Local excision of the orbital lesion and endonasal endoscopic resection of the disease from nasal, paranasal sinuses, and nasopharynx was achieved effectively. The clinical presentation, histologic characteristics, pathogenesis and treatment of this case is discussed. This is the first reported case, to the best of our knowledge, of the disease to be associated with facial asymmetry.