Leiomyoma in an index finger: report of case and review of literature.
Ontology highlight
ABSTRACT:
SUBMITTER: Boutayeb F
PROVIDER: S-EPMC2525876 | biostudies-other | 2008 Sep
REPOSITORIES: biostudies-other
Similar Datasets
Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
2024-11-13 | GSE278926 | GEO
Project description:IntroductionSmooth muscle tumors of the vulva are more difficult to diagnose and are frequently mistaken as Bartholin cysts prior to surgery.Case presentationA 41-year-old female presented with a left vulvar mass that increased in size compared to the previous year. The patient had normal urination and a regular menstrual cycle. The presentation was not associated with dyspareunia, abnormal bleeding, and signs of infection (e.g., fever, vaginal discharge). The history of any sexually transmitted disease was inconclusive. There was also no family history of malignancy. Physical examination showed a solitary swelling mass, measuring 5 × 2 cm in the left labia majora at the site of the Bartholin gland. The mass was firm in consistency, partially movable, and non-tender with no inguinal lymphadenopathy. Histopathology after surgical removal revealed a benign vulvar leiomyoma.DiscussionLabia majora leiomyoma at the site of the Bartholin gland is rather uncommon. Some cases can develop into atypical leiomyoma or even leiomyosarcoma with local tissue infiltration.ConclusionIf the clinical picture is unusual, it is better to send the patient for ultrasound and MRI to exclude other causes followed by performing wide local surgical excision of the mass to allow proper histopathological and/or immunohistochemistry examination to differentiate between benign and malignant tumors.
| S-EPMC9142705 | biostudies-literature
Project description:Hemoptysis caused by Parvimonas micra: case report and literature review
| PRJEB72347 | ENA
Project description:We report a case of a 55 years old women who present a ALK associated renal cell carcinoma, with 3p deletion and measling of TFE3 expression. With CGH analysis and FISH we identify the rearrangment of ALK with TPM3
2017-03-24 | GSE96980 | GEO
Project description:Uterine leiomyomas are the most common gynecological tumors in premenopausal women. While the lung is the most common extrauterine organ afflicted, benign metastasizing leiomyomas (BML) of the heart are rarities. We report an incidental finding of a cardiac mass in a 36-year-old woman who presented to the Emergency Department after a motor vehicle accident. CT scan of the chest revealed 2 well-circumscribed pulmonary nodules and a filling defect in the right ventricle. Echocardiogram showed a 4?cm mass attached to the right ventricular (RV) septum. The cardiac tumor was resected and showed benign histologic features. Immunohistochemical staining was positive for smooth muscle ?-actin and desmin, as well as estrogen and progesterone receptors, consistent with the diagnosis of uterine leiomyoma.
| S-EPMC5987332 | biostudies-literature
Project description:Extraskeletal chondroma is defined as a rare, benign, cartilaginous tumor arising from soft tissues such as tendons, tendon sheath synovia, and joint capsules with no continuity to the periosteum or bone cortex. In histopathologic findings, the tumor exhibits many lobular structures and some parts similar to hyaline cartilage. Therefore, it is sometimes difficult to differentiate this tumor from low-grade chondrosarcoma because of their similar histopathologic findings. In order to prevent recurrence, it is necessary to remove the tumor as a whole, including the capsule, so as not to leave any remnants of the tumor. In this article, we report our treatment experience with a case of extraskeletal chondroma in the index finger of a 63-year-old patient.
| S-EPMC5498964 | biostudies-other
Project description:BackgroundBenign metastasizing leiomyoma (BML) is a smooth muscle tumour of genital origin occurring in women with a history of uterine or pelvic leiomyoma. Although histologically benign, it exhibits metastatic behaviour. Lungs are the most common site of metastasis. The heart is a rare site and metastasis at this location has been described in just few cases.Case summaryA 42-year-old woman with a resected uterine leiomyoma and a subsequent and still not-resected left periovarian solid mass began complaining of shortness of breath 2 weeks before presentation. Echocardiography showed a mass located in the right ventricular cavity, enlargement of the right ventricle, and severe tricuspid regurgitation. Cardiac magnetic resonance revealed two masses suggestive of tumours in the right ventricle causing right ventricular outflow tract obstruction. Cardiac surgery was performed and, intraoperatively, a third small mass was detected on the tricuspid valve. The masses were resected, and tricuspid valve replacement was performed. Ten days later, the patient underwent an abdominal surgery for the pelvic mass resection. Immunohistochemical analysis of the cardiac and pelvic masses corroborated the diagnosis of benign leiomyomas. The patient was discharged in good clinical condition.DiscussionBenign metastasizing leiomyoma to the heart is a rare condition. The pathogenesis remains controversial and includes: (i) vascular or lymphatic spread of myomatous tissue cells when leiomyoma resection or hysterectomy is performed and (ii) smooth muscle cell proliferation in multiple regions. The more usual locations of BML in the heart seem to be the tricuspid valve and the right face of the interventricular septum.
| S-EPMC7793117 | biostudies-literature
Project description:Uterine leiomyoma is the most common benign gynecological tumor. Rarely, it has benign extra-uterine growth patterns, including benign metastasizing leiomyoma (BML), with lungs being the most common metastatic site. We present a case of a 47-year-old female who, 3 years prior to presentation, underwent abdominal supra-cervical hysterectomy for benign leiomyoma. Approximately 6 months prior to presentation, she was seen for shortness of breath and chest pain. A CT of the chest revealed multiple new non-calcified pulmonary nodules bilaterally. PET/CT demonstrated mild FDG uptake in multiple lung nodules, with no significant extra-thoracic sites of abnormal FDG uptake. A CT guided lung biopsy showed a low grade, smooth muscle tumor. Immunohistochemical staining was positive for smooth-muscle actin and desmin, estrogen and progesterone receptor and was negative for CD117, HMB-45, CD34, pan cytokeratin and EMA. She underwent wedge resection of one of the nodules which confirmed the above findings. A cytogenetic analysis was also performed, which was consistent with pulmonary BML. She ultimately underwent left lower lobe resection and was started on a daily aromatase inhibitor. BML is a rare disease usually seen in women of reproductive age. The pathogenesis and treatment remain controversial. BML mostly tends to have an indolent course and a favorable outcome.
| S-EPMC6010632 | biostudies-literature
Project description:Myopericytoma (MPC) is a benign soft tissue tumor that develops from perivascular myoid cells and is part of the perivascular tumor group. MPC most commonly occurs in the subcutaneous soft tissues of the extremities, while intracranial MPC is remarkably rare. Herein, we report the case of a 45-year-old woman with myopericytoma who had a 2-week history of recurrent dizziness. Magnetic resonance imaging (MRI) revealed an irregular mass in the pons, with nodular enhancement of the mass on contrast-enhanced scans. The mass was considered a vascular lesion and was highly suspected to be a hemangioblastoma, prompting surgical intervention for the patient. The postoperative pathological report corrected the initial diagnosis, hemangioblastoma, to MPC. Intracranial MPC is extremely rare and there are no detailed imaging sources for this condition; furthermore, MPC occurrence in the pons has not been reported previously. This report presents the etiological characteristics intracranial MPC as visualized through MRI data alongside a comparative discussion on other reported diagnoses that resemble MPC. The case findings will provide a more widespread understanding for radiologists regarding the differential diagnosis of intracranial blood-rich supply lesions.
| S-EPMC9148993 | biostudies-literature
Project description:Objective: The aim of the present study is to explore the clinical and genetic characteristics of 3p deletion syndrome to improve clinicians' understanding of the disease. Methods: The clinical manifestations, process of diagnosis and treatment, and genetic characteristics of an individual case of 3p deletion syndrome were analyzed. CNKI, Wanfang Data, and the Biomedical Literature Database (PubMed) were searched. The search time limit, using "3p deletion syndrome" and "BRPF1" as keywords, was from the creation of the database up to June 2020. Related data were reviewed. Results: The proband was a male child with general developmental and intellectual disabilities, special facial features and congenital heart disease. The child was the parents' first pregnancy and first born. Gene microarray analysis showed a 10.095 Mb deletion in the 3p26.3-p25.3 region, resulting in a heterozygous mutation of the BRPF1 gene; thus, the patient was diagnosed with 3p deletion syndrome. At the time of diagnosis, the child was 1 year of age and was responding to comprehensive rehabilitation training. A total of 29 well-documented cases were found in the literature, of which 19 cases had an onset within 1 year of birth, and mainly manifested with mental and motor development disabilities and abnormal facial features, with different gene deletions, depending on the size and location of the 3p deletion. Conclusion: The genetic test results of the child in this study indicated a heterozygous deletion of the BRPF1 gene on the short arm of chromosome 3, which was a unique feature of this study, since it was rarely mentioned in other reports of 3p deletion syndrome. The clinical phenotype of this syndrome is complex as it can include intellectual and motor development backwardness, low muscle tone, certain abnormal facial features (low hairline, bilateral ptosis, widely spaced eyes, a forward nose, left ear auricle deformity, a high-arched palate, a small jaw), and the deformation of systems such as the gastrointestinal tract and the urinary tract malformation or symptoms of epilepsy. As clinical manifestations can be relatively mild, the syndrome is easy to miss or misdiagnose. Clinical workers need to be aware of this disease when they find that children have special features, such as stunted growth, low muscle tone or ptosis, and it needs to be diagnosed through genetic testing. Most children are able to develop certain social skills after rehabilitation treatment.
| S-EPMC7902511 | biostudies-literature