نتایج جستجو برای: bullosa
تعداد نتایج: 3547 فیلتر نتایج به سال:
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...
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...
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...
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...
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...
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...
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...
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 ...
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...
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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