Cholangiocarcinoma accompanied by desmoid-type fibromatosis

BACKGROUND:Cholangiocarcinoma complicated by intraabdominal desmoid-type fibromatosis(DTF)is uncommon. There are no reports on patients with this type of fibromatosis, in which the pre-operative treatment(including diagnosis), surgical approach,post-operative pathologic reports,and prognosis are discussed. METHOD:The clinicopathological features of a 49-year-old man were retrospectively analyzed. RESULTS:Cholangiocarcinoma located in the inferior segment of the bile duct was considered pre-operatively on the basis of clinical findings.At the time of pancreaticoduodenectomy,the mesojejunum was stiff without nodules or a mass at a distance of approximately 80 cm from the ligament of Treitz.Complete excision of the entire lesion of the intestinal mesenteric contracture and its subsidiary was performed.Post-operative pathologic findings confirmed an adenocarcinoma located at the extremity of the common bile duct and infiltrating the full thickness of the common bile duct as well as the deep muscular layer of the duodenum.The contracted jejunal mesentery was shown to have DTF.The patient was alive with no evidence of recurrence after a follow-up of 6 months. CONCLUSIONS:The patient had a rare hereditary disease with intra-abdominal DTF,which manifests the characteristics of an aggressive growth pattern and a high rate of local recurrence; conservative therapy is recommended.Complete excision of the fibromatous lesion during pancreaticoduodenectomy may maximally decrease the risk of local recurrence.

A Case of Shoulder Desmoid-Type Fibromatosis Missed on an Initial Work Up: Case Report and Literature Review

Desmoid-type fibromatosis (DF) is a rare, locally invasive, non-metastasizing soft tissue proliferation derived from mesenchymal progenitor cells. The incidence of DF is 2 to 4 per million per year in the general population and typically affects adults between the ages of 35 - 40. Desmoid-type fibromatosis can either be sporadic or associated with mutation in the adenomatous polyposis coli gene. Trauma, surgery, pregnancy, and oral contraceptives have been identified as risk factors for the development of desmoid-type fibromatosis. MRI is the standard for image characterization, and CT image-guided core needle biopsy for diagnosis. “Wait and see” is the current management recommendation, and studies of y-secretase inhibitors and tyrosine kinase inhibitors have shown promise in the treatment of desmoid-type fibromatosis. This report presents a case of rare right shoulder desmoid type fibromatosis in a 48-year-old male that was missed on an initial workup including EMG/NCS and shoulder MRI, and demonstrates the importance of revisiting the diagnostic process if a former workup has yielded an unclear clinical picture.

Abnormality of chromosome 8 in desmoid-type fibromatosis

Desmoid-type fibromatoses are clonal fibroblastic proliferations that arise in deep soft tissues and are characterized by infiltrative growth and a tendency toward local recurrence. The molecular genetic studies show that there are chromosomal abnormalities relating to the pathogenesis of this lesion, such as trisomy 8. However, there are different results concerning this type of abnormality. Fluorescence in situ hybridization （FISH） is a sensitive and reproducible technique that combines molecular cytogenetics with morphologic information and brings them together in a single frame for evaluation. To explore the controversy of the aneuploid abnormality of chromosome 8, we collected specimens of desmoid-type fibromatosis to determine whether the existence of trisomy 8 chromosome abnormalities correlates with clinicopathologic features, as well as to investigate the feasibility of detecting trisomy 8 in FFPE tissue by FISH method.

Targeted therapy of desmoid-type fibromatosis: mechanism, current situation, and future prospects

Desmoid-type fibromatosis (DF) is a rare monoclonal fibroblastic proliferation that is characterized by locally infiltrative but rarely metastatic lesions. Tyrosine kinase and γ-secretase inhibitors are primarily used in the targeted therapy of DF. The use of these drugs, however, is mainly based on the recommendations of retrospective studies with small sample sizes. Previous studies that focused on the mechanism, efficacy, and safety of targeted therapy for DF were reviewed to provide references for clinical applications and research. The efficacy and safety of targeted therapy were compared with those of other systemic therapy options. Targeted therapy does not provide considerable advantages in efficacy and safety over other medical treatments and is usually applied after the failure of antihormonal therapies, nonsteroidal anti-inflammatory drugs, and chemotherapy. Further studies are required to explore the mechanism, indications, and appropriate drug dosage of the targeted therapy of DF.

Giant mesenteric fibromatosis:Report of a case and review of the literature

Mesenteric fibromatosis poses a diagnostic and therapeutic challenge.This paper presents a 35-year-old female complaining of vague abdominal pain of 2 mo duration.Her computed tomography scan and magnetic resonance imaging revealed a pelvi-abdominal heterogenous mass with significant displacement of the small bowel and urinary bladder.She underwent surgical excision of the mass with resection and anastomosis of the involved loop of the small intestine.Histological examination confirmed mesenteric fibromatosis without infiltration of the bowel.The patient remained well during the 6 mo follow-up.

Desmoid type fibromatosis: A case report with an unusual etiology

Desmoid type fibromatosis(DTF) is a rare, locally invasive, non-metastasizing soft tissue tumor. We report an interesting case of DTF involving the pancreatic head of a 54-year-old woman. She presented with intermittent dysphagia and significant weight loss within a 3-mo period. Laboratory findings showed mild elevation of transaminases, significant elevation of alkaline phosphatase and direct hyperbilirubinemia, indicating obstructive jaundice. Computerized tomography of the abdomen revealed a mass in the head of the pancreas, dilated common bile duct, and dilated pancreatic duct. Endoscopic retrograde cholangiopancreatography and endoscopic ultrasound showed a large hypoechoic massin the head of the pancreas causing extrahepatic biliary obstruction and pancreatic ductal dilation. The patient underwent a successful partial pancreatico-duodenectomy and cholecystectomy. She received no additional therapy after surgery, and liver function tests were normalized within nine days after surgery. Currently, surgical resection is the recommended first line treatment. The patient will be followed for any recurrence.

Gingival fibromatosis with multiple unusual findings:report of a rare case

Gingival fibromatosis is a rare disease, especially its syndromic form. Here, we review the literatures on gingival fibromatosis and briefly summarize some characters on clinical, etiological, genetic and histopathological aspects. We also present a rare case of gingival fibromatosis with multiple unusual findings in a 21-year-old man. And we differentiate it from some well-known syndromes including gingival fibromatosis. Maybe it implies a new syndrome within the spectrum of those including gingival fibromatosis.

Peutz-Jeghers syndrome with mesenteric fibromatosis: A case report and review of literature

BACKGROUND Peutz-Jeghers syndrome(PJS) and mesenteric fibromatosis(MF) are rare diseases,and PJS accompanying MF has not been previously reported. Here, we report a case of a 36-year-old man with both PJS and MF, who underwent total colectomy and MF surgical excision without regular follow-up. Two years later, he sought treatment for recurrent acute abdominal pain. Emergency computed tomography showed multiple soft tissue masses in the abdominal and pelvic cavity, and adhesions in the small bowel and peritoneum. Partial intestinal resection and excision of the recurrent MF were performed to relieve the symptoms.CASE SUMMARY A 36-year-old male patient underwent total colectomy for PJS with MF. No regular reexamination was performed after the operation. Two years later, due to intestinal obstruction caused by MF enveloping part of the small intestine and peritoneum, the patient came to our hospital for treatment. Extensive recurrence was observed in the abdomen and pelvic cavity. The MF had invaded the small intestine and could not be relieved intraoperatively. Finally, partial bowel resection, proximal stoma, and intravenous nutrition were performed to maintain life.CONCLUSION Regular detection is the primary way to prevent deterioration from PJS. Although MF is a benign tumor, it has characteristics of invasive growth and ready recurrence. Therefore, close follow-up of both the history of MF and gastrointestinal surgery are advisable. Early detection and early treatment are the main means of improving patient prognosis.

Coexistence of duodenum derived aggressive fibromatosis and paraduodenal hydatid cyst: A case report and review of literature

Intra-abdominal aggressive fibromatosis is a locally aggressive tumor mostly originating from the mesentery or retroperitoneal space, infiltrating adjacent tissues, and very rarely metastasizing to distant organs. There are only two case reports in the English language literature where intra-abdominal aggressive fibromatosis originated from the intestinal wall. In this study, we aimed to report a case of aggressive fibromatosis originating from the muscularis propria layer of the duodenum and invading pancreas. Another interesting aspect of this case is that a primary paraduodenal hydatid cyst was incidentally detected in the surgical specimen. A 46-year-old female patient presented to our clinic with postprandial nausea and vomiting. A contrast-enhanced abdominal computerized tomography revealed a mass lesion with a size of 100 mm × 80 mm which originated from the distal pancreas and compressed the gastric pilor externally. Upon exploration the distal part of duodenum, proximaljejunum, and pancreatic mass were noted to form a conglomerated structure. Therefore, the fourth part of the duodenum, a 25 cm part of the proximal jejunum, distal pancreas, and the spleen were excised enbloc. The pathology report of the specimen indicated fibromatosis with a diameter of 55 mm that originated from the muscularis propria of the duodenum and extended into the pancreatic parenchyma. There was also an incidentally detected 10 mm paraduodenal hydatid cyst. No tumor recurrence was detected at a follow-up period of 24 mo. In conclusion, the most ideal treatment of desmoid-type fibromatosis is surgical resection of the mass lesion with clean surgical borders. Although rare, this tumor may originate from the intestinal wall. Histopathological verification is of great significance for a proper diagnosis.

Localized intra-abdominal fibromatosis of the small bowel mimicking a gastrointestinal stromal tumor: A case report

Intra-abdominal fibromatosis (IAF) is a benign mesenchymal lesion that can occur throughout the gastrointestinal tract. Although rare, it is the most common primary tumor of the mesentery and can develop at any age. We describe a rare case of primary IAF involving the mesentery and small bowel which clinically, macroscopically and histologically mimicked malignant gastrointestinal stromal tumor (GIST). This report highlights the fact that benign IAF can be misdiagnosed as a malignant GIST localized in the mesentery or arising from the intestinal wall. Their diagnostic discrimination is essential because of their very different biological behaviors and the fact that the introduction of effective therapies involving tyrosine kinase inhibitor STI571 (imatinib mesylate) has greatly changed the clinical approach to intra-abdominal stromal spindle cell tumors.

Misdiagnosis of ligamentoid fibromatosis of the small mesenteric:A case report

BACKGROUND Ligamentoid fibromatosis is a rare borderline tumor that occurs in the muscles,fascia,and aponeurosis.It is a kind of soft tissue tumor of fibrous origin,also known as invasive fibromatosis,desmoid fibroma,neurofibromatosis,etc.The tumor is between benign and malignant tumors and rarely has distant metastasis.Its characteristics are mainly local invasion,destruction and growth and easy recurrence.The World Health Organization defines it as a fibroblast cloning value-added lesion originating from deep soft tissue,which causes local invasion and growth leading to tissue reconstruction,extrusion and destruction of important structures and organs.The incidence rate accounts for 0.03%of all tumors and less than 3%of all soft tissue tumors.Definite diagnosis mainly depends on postoperative pathology.Surgical resection is still the main way to treat the disease,and a variety of nonsurgical treatment methods are auxiliary.Combined treatment can effectively reduce the risk of postoperative recurrence.CASE SUMMARY The patient is a 57-year-old female.One week ago,she accidentally found a mass in the left upper abdomen while lying flat.There was no abdominal pain and abdominal distention,no fever,no black stool and blood in the stool and no nausea and vomiting.She had a 10-year history of glaucoma on the left side,underwent hysterectomy for uterine fibroids 5 years ago,had no hypertension,heart disease,diabetes,hepatitis or tuberculosis,had no history of smoking and had been drinking for 20 years.CONCLUSION Accurate preoperative diagnosis is difficult,surgical resection is the main treatment,and a variety of nonsurgical treatment methods are auxiliary.Combined treatment can effectively reduce the risk of postoperative recurrence.The prognosis is still good,and the risk of recurrence of secondary surgery is greatly increased.

Breast Fibromatosis after Hydrophilic Polyacrylamide Gel Injection for Breast Augmentation: a Case Report and Review of the Literature

BREAST fibromatosis is a rare kind of lesion.The average incidence is about 2-4 per million every year.1 So far there have been about 100 cases reported altogether.2 In this report, we describe a case of breast fibromatosis developed after hydrophilic polyacrylamide gel (HPG) injection for breast augmenta-Received for publication December 10, 2010.

Gingival Fibromatosis

Presented in this paper is a clinico-pathological report of 11 cases of gingival fibromatosis. Of the 11 patients in our series, 2 cases (18.2%) with family history began to have symptom from age of 3, which is manifested by the involvement of whole gum. 9 patients (81.8%), for which the etiology was unknown, had onset of the disease at the periods of deciduous dentition, mixed dentition or permanent dentition, with localized or overall involvement of gingiva. The disease is characterized by diffuse or localized proliferation of gum. Microscopically, the proliferating gum tissue revealed well-developed fibrotic structure with few cells; and the fibers were densely arranged without clear boundary. The fibrotic tissues showed a diminishing of blood vessels and the infiltration of inflammatory cells is not conspicuous.

Ocular findings in syndromic gingival fibromatosis: a case study and electronic microscopic investigation of lens

We report a case of syndromic gingival fibromatosis with notable ocular lesions,bilateral congenital cataracts,esotropia,and high myopia of a 21-year-old male patient from China.The patient was diagnosed with gingival fibromatosis based on his massive gingival overgrowth and histological findings that were consistent with gingival fibromatosis through a gingival biopsy.Lens opacity features were presented and phacoemulsificaion with intraocular lens(IOL)implantation was performed to manage the cataracts in both eyes.Transmission electronic microscopy was used to investigate the ultrastructure of the removed lens tissue.We also review the literature on gingival fibromatosis and briefly summarize the ocular manifestations of this rare disease.

1 Case Clinical Report of Cranium Aggressive Fibromatosis and Literature Review

Objective: The purpose of this study is to explore the clinical characteristics and therapeutic methods of aggressive fibromatosis (AF) in skull. Methods: The clinical data and operative therapy of one case of aggressive fibromatosis in skull in our department were examined and reviewed. The associated literatures were reviewed and discussed. Results: It was indicated that the main manifestation of AF in skull was headache and skull tumor. There was prominent osteolytic destruction found in X-ray plain film for skull AF. And CT scanning showed that skull sclerotin was disorganized and inhomogeneous, with widen diploe. The skull fibromatosis constituted by fibroblasts and myofibroblas, which were mainly spindle-shaped without heteromorphism. Immunohistochemistry showed positive expression of β-catenin and Vim in these cells. The enlarged incision was adopted for the strategy of operation in this patient of skull AF. After follow-up, there was no recurrence of AF discovered. Conclusions: Skull AF is very rare in neurosurgical clinic. The clinical manifestation and iconography of AF were lack of specificity. Therefore, skull AF is hard to diagnose preoperatively. The effective diagnose is mainly dependant on histopathologic examination. As for treatment, operation is the most optimal method so far, which has a good therapeutic effect.

Primary fibromatosis of the breast in a 13 years old girl

The mammary fibromatosis is a rare clinical entity. The etiopathogeny remains unclear. The clinical and radiological characteristics of this injury are often worrying within the main differential diagnosis of the mammary carcinoma;however only the histological examination can confirm the diagnosis. It is characterized by a strictly local evolution with an infiltration and recidivism tendancy without giving metastasis. The treatment is basically surgical. We report here-with an observed case of 13-year-old girl, presenting with a huge tumor located in the left breast with ulceration of the nipple-areolar plate. The diagnosis is confirmed by the histological study. The treatment consisted of a mastectomy. Suites are simple. In view of the clinical evidence of the literature, we call back the difficulties of management of this tumor.

Fibromatosis Colli in Bamako: An Entity to Know in Infants

Introduction: Fibromatosis colli is a congenital muscle tumor with an incidence of 0.4%. This lesion is fibrous involving the sternocleidomastoid muscle, discovered after a few weeks of life in a patient who had known or unknown perinatal trauma. Rarely bilateral, it evolves spontaneously favorably in a few weeks or months in the vast majority of cases. Objectives: The purpose of this work is to bring the interest in ultrasound in the management of fibromatosis colli. Material and Methods: This is a descriptive cross-sectional study covering a period of 21 months from December 2019 to December 2021 in the medical imaging department of the medical clinic “Marie Cuire” in Bamako. The variables analyzed were age, sex and ultrasound results. The ultrasound system used was General Electric (GE). Data analysis was performed using Excel software. Results: During the 21-month study period, 1260 infants were seen in our service, including 0.95% for cervical swelling. We had a male predominance with 8 cases out of 12 cases and the age of the patients was mainly between 21 days and 30 days. The diagnosis was made by ultrasound, which revealed within the Sterno-cleido-mastoid muscle (MSCM) a hypo-isoechoic or heterogeneous oblong mass or thickening without any other associated anomaly. Conclusion: Cervical ultrasound is a significant examination in the management of fibromatosis colli for diagnostic confirmation and therapeutic follow-up.

A case report on aggressive fibromatosis of the arm and shoulder

Background:Aggressive fibromatosis is a locally aggressive tumor that originates from the deep musculo-aponeurotic structures.In this report,we describe the case of an adolescent male with painless,progressively growing swelling in his right arm necessitated surgical excision and postoperative pathologic examination revealed aggressive fibromatosis.Case presentation:A 15-year-old boy presented with a painless,progressively growing swelling of his right arm.The swelling was firm,non-tender and with restricted mobility.MRI imaging revealed a well-defined,heterogenous,lobulated swelling extending beneath arm and shoulder muscles.Wide local excision of the swelling was done under general anesthesia and pathologic examination revealed aggressive fibromatosis of the arm.Adjuvant radiotherapy was provided to the patient to reduce the risk of local recurrence of the tumor.Conclusion:Aggressive fibromatosis of the upper limb presents as a painless,progressively growing swelling.Assessment with MRI is imperative for making a preliminary diagnosis.Wide local excision with safety margin with adjuvant radiotherapy is the main line of treatment to minimize the incidence of recurrence and preserve the limb.

甲状腺术后并发颈部侵袭性纤维瘤病1例报道并文献复习

回顾1例甲状腺乳头状癌(PTC)术后并发颈部侵袭性纤维瘤病(AF)患者的诊治经过及临床病理资料。患者女,25岁,2021年行左PTC根治术,复查甲状腺彩超示右侧甲状腺梭形低回声结节,粗针穿刺考虑为纤维组织增生性病变,基因检测示HRAS、KRAS基因突变。再次入院行右侧颈部肿物切除术,术后病理确诊为AF。结合国内外文献对该病诊疗经验进行总结并归纳其特征,以期为临床工作者更好地了解发病机制和诊疗提供参考。甲状腺术后并发颈部AF多呈局部侵袭,局部复发率高,等待观察是一线治疗手段,综合评估后对进展肿块采取外科治疗,对难以手术治疗的采取全身治疗。

误诊为卵巢肿瘤的结肠侵袭性纤维瘤病一例

腹内侵袭性纤维瘤病是一种较罕见的疾病,因症状及辅助检查征象不典型,临床上常被误认为卵巢或胃肠道肿瘤。回顾分析1例育龄期女性患者因盆腹腔巨大肿物行彩色超声检查提示卵巢来源而被误诊为卵巢肿瘤的诊疗经过。该患者彩色超声考虑卵巢来源肿瘤,后行磁共振成像(magnetic resonance imaging,MRI)考虑间质瘤可能,因性质待定遂行手术探查,术中探查其来源为横结肠,肛肠科协助将肿物完整切除,术后组织病理学及免疫组织化学确诊为结肠侵袭性纤维瘤病。术后随访2年余,患者恢复尚可,暂无复发征象。