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Jung Min Ko, Jae So Cho, Yongjin Yoo, Jieun Seo, Murim Choi, Jong-Hee Chae, Hye-Ran Lee, Tae-Joon Cho
Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been described, and new phenotypic features continue to be added. In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity...
October 24, 2016: Journal of Child Neurology
I M Zeitoun, G H Borhamy, M M Fata, A M Salloum
Tumour infiltration of the carotid arteries, especially the common carotid artery (CCA) and the internal carotid artery (ICA), is a great challenge in maxillofacial surgery. Cases in which the malignant tumour and/or lymph node is stuck to the carotid artery, especially the ICA, have previously been considered inoperable. Four such cases, two with recurrent metastatic nodal neck masses encasing the ICA, one with aggressive fibromatosis, and one with a carotid body tumour, are described herein. Successful resection of the mass along with the ICA was performed in all cases after a positive balloon occlusion test...
October 10, 2016: International Journal of Oral and Maxillofacial Surgery
Caterina Rebecchini, Antoine Nobile, Simonetta Piana, Rossella Sarro, Bettina Bisig, Sykiotis P Gerasimos, Chiara Saglietti, Maurice Matter, Laura Marino, Massimo Bongiovanni
Various histological variants of papillary thyroid carcinoma have been reported, some with clinical implications, some with peculiar, sometimes misleading morphologies. One of these rare and poorly characterized variants is papillary thyroid carcinoma with nodular fasciitis-like stroma, of which fewer than 30 cases have been documented, mostly as isolated reports. It is a dual tumor comprising a malignant epithelial proliferation that harbors typical features of conventional papillary thyroid carcinoma, admixed with a prominent mesenchymal proliferation resembling nodular fasciitis or fibromatosis...
October 7, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Jacob Rinkinen, Matthew D Chetta, Kevin C Chung
Background: Pyrocarbon implants represent an increasingly popular method to treat proximal interphalangeal joint dysfunction. To this point, no association has been shown between pyrocarbon biomaterials and fibromatosis. We present a potentially serious and destructive complication associated with pyrocarbon arthroplasty. Methods: We demonstrate a clinical case involving pyrocarbon arthroplasty and subsequent fibromatosis development in an otherwise healthy 23-year-old female. To present this association, we illustrate the diagnostic workup involved in a rapidly expanding soft tissue mass of the hand and explain the appropriate treatment...
September 2016: Hand: Official Journal of the American Association for Hand Surgery
Meeta Dipak Mantri, Mahajan M Pradeep, Patil O Kalpesh, Raj J Pranavsinh
Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. It represents a disease spectrum with infantile systemic hyalinosis (ISH) being the severe form and juvenile hyaline fibromatosis (JHF) being the mild form. Dermatologic manifestations include thickened skin, perianal nodules, and facial papules, gingival hyperplasia, large subcutaneous tumors on the scalp, hyperpigmented plaques over the metacarpophalangeal joints and malleoli, and joint contractures...
September 2016: Indian Journal of Dermatology
Etan Marks, Michelle Ewart
Infantile digital fibroma is a rare benign lesion that usually occurs during the first 2 years of life. It can be multiple, but it is usually a single lesion. If it grows large enough it can cause joint deformities or interfere with everyday activities. Microscopically, the neoplastic cells usually have inclusion bodies that are best highlighted with a Masson trichrome stain but can often be seen on hematoxylin-eosin staining. Treatment for this entity is usually watchful waiting because of its ability to spontaneously regress, but excision is recommended if the lesion is symptomatic...
October 2016: Archives of Pathology & Laboratory Medicine
S Simonsen, A Vera Casaño, E Gómez Moyano, A Sanz Trelles, C Bravo Bravo, L Martínez Pilar
No abstract text is available yet for this article.
October 2016: British Journal of Dermatology
Luyuan Li, John N Jensen, Sara Szabo, Peter VanTuinen, Sean M Lew
Desmoid tumors, also known as aggressive fibromatosis, are locally infiltrating musculoaponeurotic neoplasms arising in connective tissues. Desmoid tumors may be associated with familial adenomatous polyposis (FAP), a genetic disorder that presents with hundreds to thousands of precancerous colorectal polyps. The authors report the case of an 18-month-old boy who underwent resection of a right temporal desmoid tumor (initially diagnosed as cranial fasciitis) and developed a bilateral frontoparietal calvarial desmoid tumor 2 years later...
September 16, 2016: Journal of Neurosurgery. Pediatrics
J Hwang, Y-L Kim, S Kang, S Kim, S-O Kim, J H Lee, D-H Han
OBJECTIVES: Our study aims to identify genetic variants associated with hereditary gingival fibromatosis (HGF) by applying whole-exome sequencing (WES) and bioinformatics analyses such as gene set enrichment analysis (GSEA) and protein functional network study. SUBJECTS AND METHODS: Two affected siblings whose grandparents and parents have normal gingiva were chosen for our investigation. Saliva collected from the patients and their parents were used for WES. GSEA and protein functional network study were performed to find gene groups in a biological coordination which are associated with HGF...
September 10, 2016: Oral Diseases
Deepa Bhat, Vanessa Wear, Elliot Weisenberg, Rosalinda Alvarado
Desmoid-type fibromatosis of the breast (also referred to as desmoid tumor or aggressive fibromatosis) is exceedingly rare. Although it does not metastasize, desmoid-type fibromatosisis is frequently locally aggressive. Recurrence is common (up to 35%), even after presumed total excision of the primary tumor [1]. The breast is an unusual location for the development of this tumor, with relatively few cases reported in the literature. We report a case of desmoid-type fibromatosis in the breast in a 31-year-old female who presented with a four-month history of a palpable left breast mass...
August 1, 2016: Breast Disease
Katarzyna Gawron, Katarzyna Łazarz-Bartyzel, Andrzej Fertala, Paweł Plakwicz, Jan Potempa, Maria Chomyszyn-Gajewska
BACKGROUND Hereditary gingival fibromatosis is characterized by slowly progressive enlargement of the gingiva that can present as an isolated condition or present as part of various syndromes. CASE REPORT An 11-year-old female reported with a gingival lesion that caused masticatory problems and poor oral hygiene. Periodontal examination revealed a dense tissue covering 30% of her teeth crowns within both jaws. Panoramic x-ray showed a normal bone height and teeth positioning. The patient did not use any medications, but a similar condition was also present in other family members...
September 9, 2016: American Journal of Case Reports
Marco Fiore, Andrea MacNeill, Alessandro Gronchi, Chiara Colombo
Desmoid-type fibromatosis is a rare nonmetastasizing neoplasm with variable behavior. Recent discoveries into the biology of this disease hold promise for identifying prognostic and predictive features and novel therapeutic targets. Surgery has been the historical standard of care but carries considerable drawbacks in terms of high local recurrence rates and poor functional outcomes. Improved understanding of the natural history of desmoid-type fibromatosis has resulted in a paradigm shift toward nonoperative management...
October 2016: Surgical Oncology Clinics of North America
Danique L M van Broekhoven, Dirk J Grünhagenl, Thijs van Dalen, Frits van Coevorden, Han J Bonenkamp, Lukas B Been, Marc H A Bemelmans, Sander D S Dijkstra, Chiara Colombo, Alessandro Gronchi, Cornelis Verhoef
BACKGROUND: The efficacy of the classical treatment modalities surgery and radiotherapy in the treatment of aggressive fibromatosis is presently disputed and there is a shift towards a more conservative approach. The aim of the present study is to objectify tumor growth in patients with extra-abdominal or abdominal wall aggressive fibromatosis, while adhering to a "watchful waiting" policy. Other objectives are to investigate quality of life and to identify factors associated with tumor growth, in particular the relation with the presence of a CTNNB1-gene mutation in the tumor...
2016: BMC Cancer
Mohamed Fawzy, Mohamed Sedky, Hossam ElZomor, Magdy El Sherbiny, Emad Salama, Ahmed Mahdy
BACKGROUND: Nearly half of soft tissue sarcomas are nonrhabdomyosarcomas (NRSTSs). The low-grade (LG) form comprises a heterogenous group of diseases that rarely metastasize but are known for local recurrence. AIM OF THE STUDY: The aim of the study was to retrospectively evaluate pediatric LG-NRSTS with regard to demography, survival, and factors affecting outcome in Egyptian patients. PATIENTS AND METHODS: The study reviewed 66 NRSTS patients who presented to the Pediatric Oncology Department, National Cancer Institute, Cairo University, between January 2008 and December 2013...
November 2016: Journal of Pediatric Hematology/oncology
Katarzyna Łazarz-Bartyzel, Katarzyna Gawron, Dagmara Darczuk, Maria Chomyszyn-Gajewska
Gingival fibromatosis is a painless gingival overgrowth. It may result in difficulties with proper dental hygiene keeping, mastication and occlusion. Herein, a case of a 10-year-old patient was described. The patient reported to the Department of Periodontology and Oral Medicine of the Jagiellonian University Medical College in Krakow due to the problems with permanent teeth eruption (23-26), chewing and dental hygiene maintaining. Based on medical history, clinical examination, diagnostic tests and histopathological study of gingival tissue biopsies the patient was diagnosed with unilateral idiopathic gingival fibromatosis...
2016: Przegla̧d Lekarski
Z Y Yue, B Ding, Y G Dong, H Wang, W X Li
No abstract text is available yet for this article.
August 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Zbigniew Żuber, Grzegorz Dyduch, Andrzej Jaworek, Dorota Turowska-Heydel, Małgorzata Sobczyk, Marta Banach-Górnicka, Katarzyna Rusnak, Wojciech Górecki
Pachydermodactyly (PDD) is a rare and benign form of digital soft tissues fibromatosis, which affects the skin of the fingers. The disorder is characterized by asymptomatic, symmetric, progressive soft tissue swelling of the proximal interphalangeal (PIP) joints of the fingers. The etiology of disease remains unknown. It is usually acquired, even though there are some publications that document family cases. It affects mainly adolescent men. We report two boys with the bilateral swelling of the of the PIP joints of the fingers and skin and subcutaneous tissue thickening...
2016: Reumatologia
Pooja J Sheth, Spencer Del Moral, Breelyn A Wilky, Jonathan C Trent, Jonathan Cohen, Andrew E Rosenberg, H Thomas Temple, Ty K Subhawong
OBJECTIVE: Imaging criteria for measuring the response of desmoid fibromatosis to systemic therapy are not well established. We evaluated a series of patients with desmoids who underwent systemic therapy to document magnetic resonance imaging (MRI) features associated with a positive clinical response. MATERIALS AND METHODS: This Institutional Review Board-approved retrospective study included 23 patients (mean age 40.5) with 29 extra-abdominal tumors. Therapeutic regimens included cytotoxic chemotherapy (n = 19), targeted therapy (n = 3), and nonsteroid anti-inflammatory drugs (NSAIDS; n = 1)...
October 2016: Skeletal Radiology
(no author information available yet)
INTRODUCTION: Retroperitoneal soft tissue sarcomas (RPS) are rare tumors. Surgery is the mainstay of curative therapy, but local recurrence is common. No recommendations concerning the best management of recurring disease have been developed so far. Although every effort should be made to optimize the initial approach, recommendations to treat recurring RPS will be helpful to maximize disease control at recurrence. METHODS: An RPS transatlantic working group was established in 2013...
October 2016: Annals of Surgical Oncology
Aslı Aksu Çerman, Ezgi Aktaş, Ilknur Kıvanç Kıvanç Altunay, Cuyan Demirkesen
Connective tissue nevi (CTN) are dermal hamartomas characterized by an imbalance in the amount and distribution of the normal components of the extracellular dermal matrix, specifically collagen, elastin, and/or proteoglicans. The term "CTN" was first mentioned by Lewandowsky in 1921 (1), although it was not accepted until the review by Gutmann in 1926 (2). Classification of CTN was established by Uitto et al. (3) in 1980 according to clinical, genetic, and histopathological features. But this classification did not include zosteriform nevi...
June 2016: Acta Dermatovenerologica Croatica: ADC
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