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Epidermolysis bullosa simplex (EBS) is the most common subtype of epidermolysis bullosa and mutations in keratin genes (KRT 5/14) are responsible for this condition. Painful blisters and keratoderma of the feet are common and the blisters in EBS typically get worse in the summer due to sweating and increased environmental heat. The primary objective of the study is to evaluate the clinical effect of Botulinum toxin A (Dysport®), injected in the foot, on plantar pain in patients with EBS. Quality of life, pain in feet, effect duration, plantar sweating and safety of the treatment will also be studied.
Control: Placebo Control, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor), Primary Purpose: Treatment
Epidermolysis Bullosa Simplex
Dysport® (Botulinumtoxin A (Btx A)), Placebo
Department of Dermatology and Venerology
SE - 751 85
Published on BioPortfolio: 2014-08-27T03:20:53-0400
The investigators hypothesize that palmar injections of botulinic toxin, via an inhibition of the sudation, would limit the occurrence of blisters in localized epidermolysis bullosa simple...
: Epidermolysis bullosa (EB) simplex is a rare orphan disease caused by a mutation in DNA leading to abnormal dominant keratins in the skin. Patients with EB simplex develop lifelong painf...
Epidermolysis bullosa (EB) simplex is a rare orphan disease caused by a mutation in DNA leading to abnormal dominant keratins in the skin. Patients with EB simplex develop lifelong painful...
The primary objective of this study is to evaluate the long term safety and tolerability of Diacerein 1% Ointment for 2 treatment cycles in subjects with EBS that were previously enrolled ...
Epidermolysis Bullosa(EB) is an inherited bullous disease. Tetracycline is believed to have anti inflammatory properties. 20 patients with EB older than 13 years will be treated for 4 mo...
Dominant mutations in the KLHL24 gene, encoding for kelch-like protein 24, have been implicated in the pathogenesis of epidermolysis bullosa simplex (EBS). So far, 26 patients from different ethniciti...
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive musc...
Dystrophic epidermolysis bullosa is a rare blistering condition caused by mutations in the COL7A1 gene. Different clinical variants have been described, with dominant and recessive inheritance, but no...
Type VII collagen (COL7), a major component of anchoring fibrils in the epidermal basement membrane zone, has been characterized as a defective protein in dystrophic epidermolysis bullosa and as an au...
Historically, diagnosis of epidermolysis bullosa has required skin biopsies for electron microscopy, direct immunofluorescence to determine which gene(s) to choose for genetic testing, or both.
A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.
Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
Form of epidermolysis bullosa characterized by trauma-induced, subepidermal blistering with no family history of the disease. Direct immunofluorescence shows IMMUNOGLOBULIN G deposited at the dermo-epidermal junction.
Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.
A type I keratin that is found associated with the KERATIN-5 in the internal stratified EPITHELIUM. Mutations in the gene for keratin-14 are associated with EPIDERMOLYSIS BULLOSA SIMPLEX.
Within medicine, nutrition (the study of food and the effect of its components on the body) has many different roles. Appropriate nutrition can help prevent certain diseases, or treat others. In critically ill patients, artificial feeding by tubes need t...
An anesthesiologist (US English) or anaesthetist (British English) is a physician trained in anesthesia and perioperative medicine. Anesthesiologists are physicians who provide medical care to patients in a wide variety of (usually acute) situations. ...
Pain is defined by the International Association for the Study of Pain as “an unpleasant sensory and emotional experience associated with actual or potential tissue damage or described in terms of such damage”. Some illnesses can be excruci...