Search results for "Fibromatosi"

Patterns of Prior and Subsequent Neoplasms in Children and Adolescents With Soft Tissue Sarcomas.

2020

Background The occurrence of prior, concurrent and subsequent neoplasms (SN) represents a serious problem in children and adolescents with soft tissue sarcomas. Pathogenic germline variants contribute to the diagnosis of multiple neoplasms in sarcoma survivors. Materials and methods The records of 748 children and adolescents, diagnosed with soft tissue sarcomas and registered in trials/registries by the cooperative soft tissue sarcoma (Cooperative Weichteilsarkom Studie) group, were reviewed for the occurrence of SNs. Reference histology review was available for all cases; the presence of oncogenic fusions known at the time of diagnosis was confirmed for fusion-positive (F+) entities. Resu…

Gists eredo familiari e pediatrici: aspetti biomolecolari e clinici.

2008

Retinal detachment with spontaneous dialysis of the ora serrata in a 13-year-old child with neurofibromatosis type 1: a case report.

2020

A 13‑year‑old child diagnosed with neurofibromatosis type 1 who on a routine control presented with rhegmatogenous retinal detachment associated to dialysis of the ora serrata in the left eye (OS). There were no clinical signs or history of contuse ocular trauma. Neurofibromatosis produces alterations in fibroblasts of the cortex of the vitreous base. This results in deficient production of the collagen fibers that anchor the vitreous base to the pars plana and the peripheral neurosensory retina. Thus, suboptimal function of the fibroblasts explains spontaneous avulsion of the vitreous base. Such avulsion in turn is related to dialysis of the ora serrata.

Dupuytren's contracture: an update of biomolecular aspects and therapeutic perspectives.

2005

The so-called fibrogenic cytokines, able to induce the growth of fibroblasts and their differentiation into myofibroblasts and to stimulate their production of extracellular matrix, are involved in the genesis of Dupuytren’s contracture. Although many studies have been made of biomolecular aspects of palmar fibromatosis, practical applications from them are still far from imminent because of the real difficulty of blocking their action in vivo, even in a chronic, progressive lesion such as Dupuytren’s disease. Consequently, surgical excision of the palmar fascia still remains the treatment of choice.

Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distributio…

2017

Abstract: Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis) is a rare, progressive, autosomal recessive disorder whose main hallmark is the deposition of amorphous hyaline material in soft tissues, with an evolutionary course and health impairment. It may present involvement of subcutaneous or periskeletal soft tissue, or may develop as a visceral infiltration entity with poor prognosis. Very few radiological data about this inherited condition have been reported, due to the extreme rarity of disease. We herein present a case of two siblings, affected by different severity of the disease, with different clinical features. They were examined by whole-body MR (WBMR) in order to as…

Symmetrical palatal fibromatosis: An additional case report with immunohistochemical characterization

2021

Background The term "symmetrical palatal fibromatosis" was recently suggested to designate bilateral palatal lesions presenting as typically broad, "mirror" images on the posterior lateral region of the hard palate. Purpose We report an additional case of this as-yet poorly understood oral lesion in a 67-year-old male patient, with emphasis on differential diagnoses and immunohistochemical characterization. Case Report The histopathological examination demonstrated a hypocellular, fibrous connective tissue with prominent thick collagen bundles and few blood vessels. Scattered large, stellate, and sometimes binucleated fibroblasts were found. Immunohistochemistry was positive for vimentin an…

Malignant peripheral nerve sheath tumor of the maxila

2005

Summary We present a case of a malignant peripheral nerve sheath tumor [MPNST] of the maxilla corresponding to a 12 year old male who had a painful, ulcerated rapid growing tumor. Histology revealed the presence of a tumor consisting of fusiform cells with abundant mitosis, with negative cytokeratins, actin, desmin, myoglobin and factor VIII. In contrast, the protein S-100 was positive. MPNST was not associated with signs of Neurofibromatosis Type 1. The patient was surgically intervened and received radiotherapy, then died within 10 months posterior to surgical intervention after suffering recurrence.

Uncommon site of Neurofibromatosis type 1 (NF1) involving the external auditory canal (EAC). Case Report

2007

Purpose: Evaluation and discussion of the procedure of the gufoni manoeuvre and its advantages in the treatment of BPPV of LSC Matherial and methods:Prospective study of 58 patients affected by LSC BPPV who where office-treated with Gufoni manoeuvre Results:Seventy-nine percent of ptients so treated had complete resolution of symptons, and 6,9% did not show any improvement in their symptons.The remaining 13,8% had a conversion into posterior semicircular BPPV Conclusions:Gufoni''s manoeuvre is effective in treating patients suffering from BPPV of LSC;it is simple to perform;there are not many movement to execute, it needs low time of positioning, and positionsare confortable to the patient …

Neurofibromatosis of the nipple-areolar area : nine case reports

2010

Introduction: Neurofibromatosis type 1 is an autosomal dominant disorder that occurs across all ethnic groups and affects approximately one in 4000 individuals. One of the most noticeable characteristics of the disease is the development of neurofibromas. Case presentation: A total of 258 patients (131 women, 127 men) with neurofibromatosis type 1 were evaluated between 1994 and 2004 in our hospital's dermatology department. Nine patients (3.45%, 95% confidence limits 1.22 to 5.68) had neurofibromas of the breast. One of these nine patients presented with an extensive congenital plexiform neurofibroma in the outer quadrants of her right breast, extending to the nipple-areolar complex. Meanw…

Hereditary gingival fibromatosis: Characteristics and treatment approach

2017

Hereditary gingival fibromatosis (HGF) is a rare disorder characterized by a benign, non-hemorrhagic, fibrous gingival overgrowth that can appear in isolation or as part of a syndrome. Clinically, a pink gingiva with marked stippling can be seen to cover almost all the tooth, in many cases preventing eruption. HGF usually begins during the transition from primary to permanent teeth, giving rise to a condition that can have negative psychological effects at that age. As it does not resolve spontaneously, the treatment of choice is gingivectomy, which can be performed with an internal or external bevel incision, depending on each case and bearing in mind the changes that will take place at th…