نتایج جستجو برای: bullosa

تعداد نتایج: 3547  

Journal: :Archives of dermatology 2012
Peter C van den Akker Miranda Nijenhuis Gonnie Meijer Robert M W Hofstra Marcel F Jonkman Anna M G Pasmooij

BACKGROUND Dystrophic epidermolysis bullosa is a genetic blistering disorder caused by mutations in the type VII collagen gene, COL7A1. In revertant mosaicism, germline mutations are corrected by somatic events resulting in a mosaic disease distribution. This "natural gene therapy" phenomenon long has been recognized in other forms of epidermolysis bullosa but only recently in dystrophic epider...

2003
CHRISTOPH M. LANSCHUETZER JOHANN W. BAUER

Epidermolysis bullosa naevi are large, eruptive melanocytic naevi which frequently arise in areas of former blisters in patients suffering from inherited epidermolysis bullosa. Morphologically, these naevi are similar to malignant melanoma, although so far no malignant transformation has been observed. To investigate the pathogenesis of these moles we documented their clinical evolution and the...

Journal: :The Journal of clinical investigation 1980
K J Valle E A Bauer

Using a sensitive, specific immunoprecipitation method, the biosynthesis of human skin collagenase was studied in fibroblast cultures from patients with recessive dystrophic epidermolysis bullosa. Sodium dodecyl sulfate polyacrylamide gel electrophoresis of solubilized immunoprecipitates showed two 3H-labeled procollagenase species that comigrated with those harvested from control cultures. Rec...

2013
Turhan San Barış Erdoğan Bülent Taşel

In recent years, with the widespread use of imaging techniques such as paranasal sinus computed tomography (CT), many variations of nasal turbinates have been described. One of these variations known as concha bullosa (CB) is pneumatization of nasal turbinates. CB is the most frequently encountered anatomical variations of the middle turbinate. The term of septated concha bullosa has been descr...

Journal: :Head & Face Medicine 2006
Alper Nabi Erkan Tuba Canbolat Cem Ozer Ismail Yilmaz Levent N Ozluoglu

Polyp originating within a concha bullosa is uncommon; we report only the third such case in the English literature. A 45-year-old man presented with nasal obstruction and headache. Examination of the nose revealed right septal deviation and a hypertrophic left middle concha. Computed tomography confirmed right septal deviation and identified left concha bullosa with thickening of the mucosa co...

2012
Ibrahim Cukurova Aytekin Yaz Murat Gumussoy Orhan G Yigitbasi Yucel Karaman

INTRODUCTION Anatomic variations of the paranasal sinuses are very common. The paranasal sinus anatomy should be carefully examined prior to performing endoscopic sinus surgery in terms of both existent pathologies and anatomic variations. The anatomy of the paranasal sinuses and its variations have gained importance, along with advances in coronal paranasal sinus computed tomography and extens...

2016
Kenan Yilmaz Deniz Demirci Numan Baydilli Sinan Nazlim

Epidermolysis bullosa is a rare inherited muco-cutaneous disorder that sometimes presentes with genitourinary involvement. Herein we report the case of an 11-year-old girl with a history of junctional epidermolysis bullosa who was admitted with urological symptoms. On cystoscopy, suspected bullous bladder lesions were observed. Mesonephroid, intestinal and squamous metaplasia is reported here f...

Journal: :Anais brasileiros de dermatologia 2011
Carolina Porto Cotrim Fernanda Tolstoy de Simone Ricardo Barbosa Lima Carlos Baptista Barcaui Maria Auxiliadora Jeunon Sousa Gabriela Lowy

Acquired melanocytic lesions resembling malignant melanoma have been described in all major categories of Epidermolysis bullosa and referred to as "Epidermolysis bullosa nevi''. They easily induce to diagnostic error, although no malignant transformation has been reported. We report the development of a large acquired melanocytic nevus at a site of recurrent blisters in a 5-year-old child with ...

Journal: :The Journal of investigative dermatology 2010
Jouni Uitto Leena Bruckner-Tuderman John A McGrath Rainer Riedl Clare Robinson

Epidermolysis bullosa, a group of heritable blistering disorders, shows extensive phenotypic variability due to mutations in as many as 20 distinct genes. There is no cure for this devastating group of disorders; however, a number of preclinical developments show promise, and some approaches have already reached the stage of early clinical trials. Dystrophic Epidermolysis Bullosa Research Assoc...

Journal: :iranian journal of basic medical sciences 0
armita kakavand hamidi department of biology, faculty of sciences, guilan university, rasht, iran mohammad moghaddam hematology research center, shiraz university of medical sciences, shiraz, iran nasim hatamnejadian skin research center, shahid beheshti university of medical sciences, tehran, iran ahmad ebrahimi cellular-molecular research center (cmerc), research institute for endocrine sciences, shahid beheshti university of medical sciences, tehran, iran

objective(s): epidermolysis bullosa is one of the most important series of mechano-bullous heritable skin disorders which is categorized into four major types according to the layer that bullae forms within basement membrane zone. in dystrophic form of the disease, blisters are made in the sublamina densa zone, at the level of type vii collagen protein which produce anchoring fibrils. type vii ...

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