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1.
J Med Case Rep ; 16(1): 415, 2022 Nov 13.
Artigo em Inglês | MEDLINE | ID: mdl-36371272

RESUMO

BACKGROUND: There are few reports of trigger wrist in the literature, as it is a rare pathology. Furthermore, various authors report that it is also hard to diagnose. It manifests with neurological symptoms at the affected wrist, which are usually induced by wrist movement, and can lead to partial or full loss of wrist function and sensitivity. The reason for reporting this specific case is that it was hard to differentiate between trigger finger and trigger wrist by clinical symptoms; no pathology was palpable or clearly seen on magnetic resonance imaging scan of the wrist. We propose a new diagnostic statement relative to this pathology. CASE PRESENTATION: A case of a 45-year-old white slavic man with trigger wrist associated with carpal tunnel syndrome, caused by a fibroma of the flexor tendon sheath, is reported. Despite careful clinical examination, it was not possible to differentiate between trigger finger and trigger wrist. Magnetic resonance imaging was performed to arrive at the right diagnosis but did not reveal any pathology in the wrist area. Carpal tunnel release was performed with a fibroma identified and excised. Wrist function was maintained well; no signs of carpal tunnel syndrome were seen at last follow-up. CONCLUSIONS: Trigger wrist can be misdiagnosed as trigger finger even if adequate clinical evaluation is performed, and this can lead to inadequate treatment. We state that, when clinical symptoms of both trigger wrist and trigger finger are present, except painful palpation of the A-1 pulley region, the case should be referred to as trigger wrist.


Assuntos
Síndrome do Túnel Carpal , Fibroma , Dedo em Gatilho , Masculino , Humanos , Pessoa de Meia-Idade , Punho/diagnóstico por imagem , Síndrome do Túnel Carpal/diagnóstico por imagem , Síndrome do Túnel Carpal/etiologia , Síndrome do Túnel Carpal/cirurgia , Dedo em Gatilho/diagnóstico por imagem , Dedo em Gatilho/etiologia , Dedo em Gatilho/cirurgia , Articulação do Punho/diagnóstico por imagem , Fibroma/complicações , Fibroma/diagnóstico por imagem , Fibroma/cirurgia
2.
PLoS One ; 17(11): e0277823, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36399450

RESUMO

INTRODUCTION: Fibroadenomas are benign lesions found in the breast tissue. Widespread access to and use of the internet has resulted in more individuals using online resources to better understand health conditions, their prognosis and treatment. The aim of this study was to investigate the readability and visual appearance of online patient resources for fibroadenoma. METHODS: We searched GoogleTM, BingTM and YahooTM on 6 July 2022 using the search terms "fibroadenoma", "breast lumps", "non-cancerous breast lumps", "benign breast lumps" and "benign breast lesions" to identify the top ten websites that appeared on each of the search engines. We excluded advertised websites, links to individual pdf documents and links to blogs/chats. We compiled a complete list of websites identified using the three search engines and the search terms and analysed the content. We only selected pages that were relevant to fibroadenoma. We excluded pages which only contained contact details and no narrative information relating to the condition. We did not assess information where links were directed to alternative websites. We undertook a qualitative visual assessment of each of the websites using a framework of pre-determined key criteria based on the Centers for Medicare and Medicaid Services toolkit. This involved assessing characteristics such as overall design, page layout, font size and colour. Each criterion was scored as: +1- criterion achieved; -1- criterion not achieved; and 0- no evidence, unclear or not applicable (maximum total score 43). We then assessed the readability of each website to determine the UK and US reading age using five different readability tests: Flesch Kincaid, Gunning Fog, Coleman Liau, SMOG, and the Automated Readability Index. We compared the readability scores to determine if there were any significant differences across the websites identified. We also generated scores for the Flesh Reading Ease as well as information about sentence structure (number of syllables per sentence and proportion of words with a high number of syllables) and proportion of people the text was readable to. RESULTS: We identified 39 websites for readability and visual assessment. The visual assessment scores for the 39 websites identified ranged from -19 to 31 points out of a possible score of 43. The median readability score for the identified websites was 8.58 (age 14-15), with a range of 6.69-12.22 (age 12-13 to university level). There was a statistically significant difference between the readability scores obtained across websites (p<0.001). Almost half of the websites (18/39; 46.2%) were classified as very difficult by the Flesch Reading Ease score, with only 13/39 (33.33%) classified as being fairly easy or plain English. CONCLUSION: We found wide differences in the general appearance, layout and focus of the fibroadenoma websites identified. The readability of most of the websites was also much higher than the recommended level for the public to understand. Fibroadenoma website information needs to be simplified to reduce the use of jargon and specificity to the condition for individuals to better comprehend it. In addition, their visual appearance could be improved by changing the layout and including images and diagrams.


Assuntos
Neoplasias da Mama , Fibroadenoma , Fibroma , Idoso , Humanos , Estados Unidos , Adolescente , Criança , Feminino , Compreensão , Medicare , Leitura , Ferramenta de Busca
3.
BMJ Case Rep ; 15(11)2022 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-36446478

RESUMO

Chondromyxoid fibroma (CMF) is a rare, benign bone tumour most commonly located within the metaphyseal region of the long bones surrounding the knee joint. Here, we present an interesting case of a young woman in her early 20s with CMF of the left iliac bone and include a literature review of comparable studies with an emphasis on radiological findings and important differential diagnoses to be aware of in this atypical location.


Assuntos
Fibroma , Radiologia , Feminino , Humanos , Radiografia , Articulação do Joelho , Conscientização , Fibroma/diagnóstico por imagem , Fibroma/cirurgia
4.
J Cardiothorac Surg ; 17(1): 292, 2022 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-36403033

RESUMO

BACKGROUND: Papillary fibroelastomas (PFEs) are a rare subtype of benign primary cardiac tumours, which are most commonly found on the aortic valve. Although median sternotomy is still used frequently there has been different attempts to remove the aortic valve PFEs minimally invasively using robotic and Mini sternotomy approach. CASE PRESENTATION: We report herein a case of totally endoscopic non robotic removal of PFE of aortic valve. CONCLUSIONS: The encouraging intra and post-operative outcomes and fast recovery using totally endoscopic approach for removal of PFE shows the potential benefits of this technique.


Assuntos
Fibroelastoma Papilar Cardíaco , Fibroma , Neoplasias Cardíacas , Robótica , Humanos , Valva Aórtica/cirurgia , Valva Aórtica/patologia , Fibroma/diagnóstico por imagem , Fibroma/cirurgia , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/cirurgia , Neoplasias Cardíacas/patologia , Endoscopia
5.
J Craniofac Surg ; 33(8): 2704-2710, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36409848

RESUMO

OBJECTIVE: To investigate the correlation between the features of basement membranes (BMs) of residual myofibers in the sternocleidomastoid muscle (SCM) and fibrosis of congenital muscular torticollis (CMT) in children, and to evaluate the relationship between BM changes and appearance of CMT. MATERIALS AND METHODS: We reviewed the CMT patients from 2017 to 2018 and performed pathological studies. Forty resected specimens were stained by hematoxylin and eosin and Masson collagen staining. Immunohistochemical staining of collagen IV and laminin was also performed. Five adductor muscle specimens from patients with developmental dysplasia of the hip were used as the control group. RESULTS: Hematoxylin and eosin staining revealed apparent interstitial fibrosis around residual myofibers in lesion specimens. However, the severity of fibrosis differed within the same samples. The average percent area of fibrous tissue in affected SCMs and controls were different significantly. Immunohistochemical staining of collagen IV and laminin showed these proteins were mostly expressed in the BM and vascular wall of affected SCM. However, BMs and myofibers from three different areas within the same SCM tissue exhibited significant differences in proteins expression. CONCLUSIONS: Therefore, the defective BMs are associated with myofiber and mesenchyme fibrosis in patients with CMT, which is crucial for understanding the histopathology of SCM.


Assuntos
Fibroma , Laminina , Criança , Humanos , Hematoxilina , Amarelo de Eosina-(YS) , Músculos do Pescoço , Fibrose , Fibroma/patologia , Membrana Basal/patologia
6.
BMJ Case Rep ; 15(11)2022 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-36442908

RESUMO

Desmoid fibromatosis is a rare connective tissue malignancy. It can occur in a variety of locations, including the abdominal wall, extremities and abdominal cavity. There has been an association with development in a prior surgical scar. Common symptoms can vary depending on the location and can include being painless to having pain at the site, functional impairment and bowel obstruction from intra-abdominal masses. In the following report, we discuss a case in which a patient's abdominal pain was attributed to a postoperative haematoma based on CT radiographic features; however, further work-up and biopsy yielded desmoid fibromatosis, a rare locally aggressive malignancy.


Assuntos
Parede Abdominal , Fibroma , Fibromatose Abdominal , Fibromatose Agressiva , Humanos , Fibromatose Agressiva/complicações , Fibromatose Agressiva/diagnóstico , Fibromatose Agressiva/cirurgia , Dor Abdominal/etiologia , Fibromatose Abdominal/complicações , Fibromatose Abdominal/diagnóstico , Fibromatose Abdominal/cirurgia , Progressão da Doença , Hematoma/diagnóstico por imagem , Hematoma/etiologia
7.
Ann Diagn Pathol ; 61: 152056, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36371890

RESUMO

Calcifying aponeurotic fibroma (CAF) is a very rare benign entity that principally affects the volar fascia, tendons, and aponeuroses of the hands and feet with a peak incidence of between 5 and 15 years, although there have been cases found for a wide age range and at various anatomical sites. We present ten CAF cases; consisting of eight children and two adults. CAF occurred in the extremities in nine of the cases and in the chest wall in one case. CAF ultrasound and radiological findings are nonspecific but may help orientate diagnosis. Magnetic resonance imaging should be performed when there are doubtful cases, when occurring in nontypical sites, and when there are cases of nontypical clinical presentation. Histologically, all cases showed two components, a fibromatosis-like component and a nodular component. Chondroid areas were present in five cases. Calcifications were observed in nine cases. ERG immunostaining showed the same patterns in all the cases; diffuse positivity in pericalcified areas, and patchy positivity in areas away from calcifications. CAF has distinctive histopathological features which should aid in the differential diagnoses with other entities.


Assuntos
Calcinose , Fibroma Ossificante , Fibroma , Neoplasias de Tecidos Moles , Criança , Adulto , Humanos , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias de Tecidos Moles/cirurgia , Fibroma Ossificante/diagnóstico por imagem , Fibroma/diagnóstico por imagem , Fibroma/cirurgia , Calcinose/diagnóstico por imagem , Calcinose/patologia
8.
Am J Case Rep ; 23: e936135, 2022 Oct 22.
Artigo em Inglês | MEDLINE | ID: mdl-36271606

RESUMO

BACKGROUND Brown and jaw tumors are rare entities of poorly understood etiology that are regarded as end-stage of bone remodeling in patients with long-lasting and chronic hyperparathyroidism. Jaw tumors are mainly diagnosed in jaw tumors syndrome (HPT-JT syndrome) and are caused by mutation in the CDC73 gene, encoding parafibromin, a tumor suppressing protein. The aim of this work is to present 4 cases of patients in whom the genetic mutation of the CDC73 gene and clinical presentation coexist in an unusual setting that has not yet been described. CASE REPORT We present cases of 4 patients with primary hyperparathyroidism. Three were diagnosed with brown tumors (located in long bones, ribs, iliac, shoulders) and 1 with brown and jaw tumors. Expression of parafibromin in affected parathyroid tissues were analyzed. In patients without positive parafibromin staining, we searched for CDC73 mutation using next-generation sequencing. Parafibromin staining was positive in 1 patient with brown tumors and was negative in 2 individuals with brown tumors and 1 with brown and jaw tumors. CDC73 mutation was detected in two-thirds of patients (60%) with negative staining for parafibromin and brown tumors. MEN1 mutation was found in the patient with brown tumor and positive staining for parafibromin. CONCLUSIONS Patients with hyperparathyroidism and coexistence of brown tumors or jaw tumors might have decreased expression of parafibromin in parathyroid adenoma tissue, which might be caused by CDC73 mutation and suggest a genetic predisposition. Further research on much larger study groups is needed.


Assuntos
Fibroma , Hiperparatireoidismo Primário , Neoplasias Maxilomandibulares , Neoplasias das Paratireoides , Humanos , Hiperparatireoidismo Primário/diagnóstico , Hiperparatireoidismo Primário/genética , Proteínas Supressoras de Tumor/genética , Neoplasias Maxilomandibulares/genética , Neoplasias Maxilomandibulares/complicações , Neoplasias Maxilomandibulares/patologia , Neoplasias das Paratireoides/complicações , Neoplasias das Paratireoides/genética , Neoplasias das Paratireoides/diagnóstico , Fatores de Transcrição
9.
Kyobu Geka ; 75(12): 1051-1054, 2022 Nov.
Artigo em Japonês | MEDLINE | ID: mdl-36299161

RESUMO

A 74-year-old woman with several oscillating intracardiac masses on the aortic valve was admitted for fever and subacute brain infarction suggestive of infectious endocarditis( IE). After empirical antibiotic treatment for four weeks according to the guidelines for IE, cardiac masses remained on the valve; however, blood culture tests were negative. These findings did not support our initial diagnosis of IE, and, in fact, suggested that IE was unlikely. The patient underwent tumor resection under cardiopulmonary bypass to prevent repeat embolism and obtain definitive diagnosis. Intraoperatively, oscillating masses appeared to be primary cardiac tumors, and were resected from the non-coronary cusp and the commissure between the right and non-coronary cusp. Pathological diagnosis was papillary fibroelastoma, and currently, the patient is free from recurrence.


Assuntos
Fibroelastoma Papilar Cardíaco , Endocardite , Fibroma , Neoplasias Cardíacas , Feminino , Humanos , Idoso , Fibroma/diagnóstico por imagem , Fibroma/cirurgia , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/cirurgia , Valva Aórtica/diagnóstico por imagem , Valva Aórtica/cirurgia , Antibacterianos
12.
BMC Musculoskelet Disord ; 23(1): 892, 2022 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-36183061

RESUMO

PURPOSE: To investigate the factors influencing and long-term effects of manual myotomy (MM) occurring during physiotherapy for congenital muscular torticollis (CMT). METHODS: We retrospectively collected the clinical data of children with CMT receiving physiotherapy between 2008 and 2018. The children were divided into manual myotomy (MM) and non-manual myotomy (NMM) groups according to whether MM occurred during treatment. We assessed physiotherapy outcomes in children with CMT using craniofacial asymmetry parameters and the Cheng-Tang rating score. By measuring the ear-eye distance, ear-nose distance, eye-mouth distance, ear-mouth distance, half-head circumference, and half-head top at two sides to evaluate craniofacial asymmetry. Based on the Cheng-Tang assessment criteria, we recorded the range of rotation, range of lateral flexion, the status of the contracted muscle, the hardness of the mass, the extent of head tilting during activities and sleeping, the status of daily activities, face size, type of head shape, cranial changes, and subjective head tilting to assess the effectiveness of treatment. Clinical data and outcome indicators (craniofacial asymmetry parameters and Cheng-Tang rating score) were compared. RESULTS: The MM group had a significantly higher total Cheng-Tang rating score than the NMM group (P < 0.05). Age at initial physiotherapy session was the risk factor for MM during physiotherapy. CONCLUSION: Children with CMT developing MM during physiotherapy generally have a good outcome, although we do not recommend MM as a goal of treatment. Physiotherapists should understand this phenomenon, assess relevant factors to predict risk, and carefully observe treatment to prevent possible complications.


Assuntos
Fibroma , Miotomia , Torcicolo , Criança , Humanos , Lactente , Músculos do Pescoço , Modalidades de Fisioterapia , Estudos Retrospectivos , Torcicolo/complicações , Torcicolo/congênito , Torcicolo/cirurgia , Resultado do Tratamento
13.
Diagn Pathol ; 17(1): 83, 2022 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-36253781

RESUMO

Ovarian fibroma is the most common benign pure stromal tumor. It has no specific clinical manifestation, most of which are pelvic or adnexal masses. 10-15% of cases with hydrothorax or ascites, after tumor resection, hydrothorax and ascites disappear, known as Meigs Syndrome. The elevated level of CA125 in a few patients was easily misdiagnosed as ovarian malignant tumor. A case of bilateral Ovarian fibroma associated with Meigs Syndrome is reported and the literature is reviewed in order to improve the understanding of the changes and avoid misdiagnosis.


Assuntos
Fibroma , Hidrotórax , Síndrome de Meigs , Neoplasias Ovarianas , Ascite/diagnóstico , Ascite/etiologia , Feminino , Fibroma/complicações , Fibroma/diagnóstico , Fibroma/patologia , Humanos , Síndrome de Meigs/diagnóstico , Síndrome de Meigs/patologia , Síndrome de Meigs/cirurgia , Neoplasias Ovarianas/complicações , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/patologia
14.
Rev. cir. traumatol. buco-maxilo-fac ; 22(3): 51-57, jul.-set. 2022. ilus
Artigo em Português | LILACS, BBO - Odontologia | ID: biblio-1400145

RESUMO

O fibroma ossificante juvenil trabecular (FOJTr) é uma lesão fibro-óssea benigna rara de comportamento agressivo, alto potencial de recorrência, e acometimento no esqueleto craniofacial de crianças e adolescentes. Uma paciente do gênero feminino, 8 anos de idade, compareceu ao ambulatório de Patologia Oral e Maxilofacial da Universidade de Gurupi ­ UNIRG para avaliação clínica de um aumento de volume na região de corpo da mandíbula do lado esquerdo. Não havia sintomatologia dolorosa e sequer desconforto. Nos exames de imagem (radiografia panorâmica e tomografia computadorizada) foram observados uma extensa área radiolúcida que se estendia desde o primeiro molar permanente com rizogênese incompleta até o incisivo central do lado oposto. Após a realização da biópsia incisional e laudos histopatológicos realizou-se a remoção completa da lesão incluindo os remanescentes decíduos sobrejacentes ao fibroma. Nas imagens de controle pós-operatório aos 90 dias (radiografia panorâmica e tomografia computadorizada), notou-se sinais de neoformação óssea com espessamento basilar e os germes dos dentes permanentes em franco desenvolvimento. Diante disso, ressalta-se a importância do conhecimento dos aspectos clínicos, radiográficos e histopatológicos para a realização de um correto diagnóstico e tratamento adequado afim de reduzir as altas taxas de recidivas... (AU)


Trabecular juvenile ossifying fibroma (TrJOF) is a rare benign fibro-osseous lesion, with aggressive behavior, high recurrence potential, which affects the craniofacial skeleton of children and adolescents. This paper aims to describe a clinical case in a female patient, 8 years old, who attended the Oral and Maxillofacial Pathology outpatient clinic ­ Faculty of Dentistry ­ University of Gurupi - UNIRG, city of Gurupi - TOCANTINS - BRAZIL for clinical evaluation of an increased in volume in the region of the mandible body, on the left side. There was no painful symptomatology or even discomfort. Imaging examinations (panoramic radiography and computed tomography (CT) showed an extensive radiolucent area that extended from the first permanent molar with incomplete root formation to the central incisor on the opposite side. After performing an incisional biopsy and histopathological examination, the lesion was completely removed included the remainder deciduous teeth overlying the tumor. In the postoperative control images at 90 days (panoramic radiography and CT), signs of bone neoformation with basilar thickening and the germs of the permanent teeth in full development were noted. In view, this importance of knowledge of clinical, radiographic and histopathological aspects is emphasized for the realization of a correct diagnosis and adequate treatment in order to reduce the high rates of relapses... (AU)


El fibroma osificante trabecular juvenil (TRFOJ) es una lesión fibroósea benigna rara con comportamiento agresivo, alto potencial de recurrencia y afectación del esqueleto craneofacial de niños y adolescentes. Paciente femenina de 8 años de edad que acude al ambulatorio de Patología Oral y Maxilofacial de la Universidad de Gurupi - UNIRG para evaluación clínica de aumento de volumen en la región del cuerpo mandibular del lado izquierdo. No presentaba sintomatología dolorosa ni molestias. Los exámenes de imagen (radiografía panorámica y tomografía computarizada) mostraron una extensa área radiolúcida que se extendía desde el primer molar permanente con formación radicular incompleta hasta el incisivo central del lado opuesto. Tras realizar la biopsia incisional y los informes histopatológicos, se procedió a la extirpación total de la lesión, incluidos los remanentes caducos que recubrían el fibroma. En las imágenes de control postoperatorio a los 90 días (radiografía panorámica y tomografía computarizada), se observaron signos de neoformación ósea con engrosamiento basilar y los gérmenes de los dientes permanentes en pleno desarrollo. Por tanto, es importante conocer los aspectos clínicos, radiográficos e histopatológicos para la realización de un diagnóstico correcto y un tratamiento adecuado con el fin de reducir las altas tasas de recaídas... (AU)


Assuntos
Humanos , Feminino , Criança , Neoplasias Ósseas , Tomografia Computadorizada por Raios X , Fibroma Ossificante , Fibroma , Osso Esponjoso/patologia , Doenças da Boca
15.
Am J Cardiol ; 182: 95-103, 2022 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-36055811

RESUMO

Cardiac fibromas are rare primary tumors that can cause significant morbidity and mortality. There has not been a large clinical case review since 1994. This study provides an updated analysis of clinical impact, thereby enhancing understanding, increasing awareness, and revealing important factors in the diagnosis and management of cardiac fibromas. A retrospective case series was conducted at a tertiary care institution by reviewing radiology, surgical and pathology archives (1964 to 2020). Cases were included if cardiac fibroma was diagnosed through imaging or pathology. Demographics, symptomatology, electrophysiologic data, radiographic findings, pathology, interventions, and outcomes were examined. A total of 26 patients with cardiac fibromas were identified, including 12 women. The median age was 20.5 years (0 days to 72 years). Symptoms included palpitations (commonly due to ventricular tachycardia, 31%), syncope (15%), angina (15%), heart failure (12%), emboli (4%), and murmur (27%). One patient had Gorlin syndrome. A total of 22 patients were diagnosed through imaging, 15 of whom were biopsy-confirmed. A total of 9 patients were initially observed. A total of 2 eventually had surgery, 1 was lost to follow-up, 3 were asymptomatic, 1 had heart failure and atrial fibrillation, and 1 had atrial fibrillation and tachy-brady syndrome, requiring ablation and pacemaker placement. A total of 19 underwent resection. A total of 4 required complex operations, 1 required a second resection, and 1 operative death occurred. In conclusion, cardiac fibromas primarily affect the pediatric population; however, this study demonstrates a significant prevalence in adults. Ventricular tachycardia is common, and multimodality imaging is diagnostically sensitive. Resection is largely successful in symptomatic patients. Surveillance may be appropriate for asymptomatic patients.


Assuntos
Fibrilação Atrial , Fibroma , Insuficiência Cardíaca , Neoplasias Cardíacas , Taquicardia Ventricular , Adulto , Fibrilação Atrial/complicações , Criança , Feminino , Fibroma/complicações , Fibroma/diagnóstico , Fibroma/cirurgia , Insuficiência Cardíaca/complicações , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/cirurgia , Humanos , Estudos Retrospectivos , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/epidemiologia , Taquicardia Ventricular/etiologia , Adulto Jovem
16.
Rom J Morphol Embryol ; 63(1): 181-189, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36074682

RESUMO

INTRODUCTION: Tuberous sclerosis complex (TSC) is a rare autosomal dominant condition characterized by cutaneous, cerebral, and other multiorgan involvement. Aneurysms due to TSC pathogenic mechanism are rarely present, mainly aortic, renal, or intracranial and very few associated with peripheral circulation. A TSC patient, aged 31 years, who developed brachial and subclavian arteries aneurysms is presented. The question of a random association of the aneurysms with TSC versus aneurysms within pathogenic released mammalian target of rapamycin (mTOR) pathway effect was raised. CASE PRESENTATION: Patient's file, available from the age of six months, was analyzed for demonstration of the TSC diagnosis. Patient was examined, and cerebral magnetic resonance imaging (MRI) was repeated. Surgery and angiographic reports and images were reviewed. Pathology of the aneurysmal wall available from surgery was reexamined and special stainings and immunohistochemistry markers were applied. Genetic characterization of the patient was performed. Definite TSC was diagnosed based on major criteria [ungual fibromas, shagreen patch, cortical tubers, subependymal nodules (SENs), subependymal giant cell astrocytoma (SEGA)], minor criteria (confetti skin lesions, dental enamel pits, gingival fibromas), genetic result showing heterozygous variant in exon 8 of TSC1 gene (c.733C>T-p.Arg245*). Pathology analysis revealed markedly thickened aneurysmal wall due to smooth muscle cells (SMCs) proliferation in media and neoformation vessels with similar characteristics in the aneurysmal wall. DISCUSSIONS AND CONCLUSIONS: This is a rare case with aneurysms related to TSC, with an exceptional peripheral localization. Pathology exam is the key investigation in demonstrating the TSC-related pathogenic mechanism. A literature review showed 73 TSC cases presenting aneurysms published until now.


Assuntos
Aneurisma , Astrocitoma , Fibroma , Esclerose Tuberosa , Aneurisma/complicações , Fibroma/complicações , Humanos , Artéria Subclávia/patologia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/genética , Esclerose Tuberosa/patologia
19.
BMJ Case Rep ; 15(9)2022 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-36137643

RESUMO

An otherwise healthy young man was referred to the rheumatologist because of bilateral proximal interphalangeal (PIP) joint enlargements. The main concern was excluding the presence of inflammatory arthritis. Physical examination revealed bilateral PIP finger joints (II-IV) swellings and cutaneous thickenings in adjacent areas. The specificity of this case was the patient who appeared in the physician's room with his violin suitcase pointing to his profession even from the first site. Complete blood count with leucocyte differentials appeared without changes. Radiographics failed to show joint fluid or bony changes. All immunological markers (RF, anti-cyclic citrullinated peptide) and laboratory data (Erythrocyte sedimentation rate, C-reactive protein, etc) were within the reference ranges or negative. After exclusion of rheumatoid and other inflammatory arthritis, and considering the occupation of the patient and demographics the diagnosis of a rare condition-pachydermodactyly was made.


Assuntos
Artrite , Fibroma , Artropatias , Adolescente , Artrite/complicações , Proteína C-Reativa/análise , Edema/etiologia , Fibroma/complicações , Articulações dos Dedos/diagnóstico por imagem , Humanos , Artropatias/complicações , Masculino , Peptídeos
20.
Diagn Pathol ; 17(1): 71, 2022 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-36153594

RESUMO

BACKGROUND: Hyperparathyroidism-Jaw Tumor (HPT-JT) is caused by inactivating germline mutations of CDC73. This hereditary disease can present with a range of symptoms. Jaw ossifying fibroma (OF) is one of the most important clinical presentations, affecting 30% of HPT-JT patients. However, OF is easily confused with other fibro-osseous lesions (FOLs) of the jaw. The correct diagnosis of HPT-JT is a real challenge and must be confirmed by genetic testing. CASE PRESENTATION: A female proband and her father suffered from multiple and recurrent FOLs in the jaw. Considering well demarcated margin and heterogeneous calcified substance lying in a variable density of fibrous stroma, we reached the diagnosis of jaw OF through radiologic and microscopic analyses. Additionally, the proband presented with chronic anemia resulting from menorrhagia, as well as renal mixed epithelial and stromal tumor (MEST). Two patients both presented with no evidence of Hyperparathyroidism (HPT). A germline start codon mutation (c.1A > G) of CDC73 was identified in them. Copy number loss at the CDC73 gene locus was verified in the jaw tumor sample of the proband. CONCLUSION: Regardless of whether HPT manifestations are present, patients with heritable jaw OF may be at risk for HPT-JT. Genetic testing should be adopted to confirm the diagnosis. Early recognition of HPT-JT helps to better develop tailored treatment plans and surveillance programs.


Assuntos
Fibroma Ossificante , Hiperparatireoidismo , Neoplasias Maxilomandibulares , Neoplasias Renais , Adenoma , Códon de Iniciação , Feminino , Fibroma , Humanos , Hiperparatireoidismo/diagnóstico , Hiperparatireoidismo/genética , Hiperparatireoidismo/patologia , Neoplasias Maxilomandibulares/diagnóstico , Neoplasias Maxilomandibulares/genética , Neoplasias Maxilomandibulares/patologia , Neoplasias Renais/diagnóstico , Neoplasias Renais/genética , Fatores de Transcrição/genética , Proteínas Supressoras de Tumor/genética
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