Genetic loss of collagen VII causes recessive dystrophic epidermolysis bullosa (RDEB)-a severe skin fragility disorder associated with lifelong blistering and disabling progressive soft tissue fibrosis. Causative therapies for this complex disorder face major hurdles, and clinical implementation remains elusive. Here, we report an alternative evidence-based approach to ameliorate fibrosis and r...

angiofibromas.4 Successful treatment of nonangiofibroma cutaneous manifestations of TSC has been sparse. To our knowledge, topical rapamycin has not been used successfully to treat the ungual fibromas of TSC. In our case, the use of topical rapamycin was well tolerated and resulted in the resolution of subungual tumors and rapid normalization of the overlying nail distortion. The pathogenesis o...

Fifty patients with Dystrophic Epidermolysis Bullosa (DEB) underwent surgery including release of limb, oral, anal, eye and penile contractures and treatment of chronic skin ulceration or skin tumours. Correction of contractures involves extensive release of skin and underlying tissues, with split skin grafting of secondary defects. Specific regions are discussed. Recurrence is inevitable due t...

AIMS To describe the ophthalmic findings in a large cohort of epidermolysis bullosa (EB) patients managed in one large specialist centre. METHODS A case note review of consecutive patients seen at Great Ormond Street Children's Hospital. Data on the dermatological disease, ophthalmic history, and examination were collected and coded onto a data sheet. RESULTS 181 patients: 50 (28%) simplex ...

Epidermolysis bullosa occurs in all races worldwide and not differ on incidence between the genders. It is a very rare disease and its occurrence in the population is not known precisely, but it is estimated that the prevalence of dystrophic form is between one case in every 20,000 to 130,000 people and the way acquired a case for 1.3 million people. According to epidemiological data from the U...

BACKGROUND Epidermolysis bullosa acquisita (EBA) is a rare, chronic, autoimmune bullous dermatosis that is caused by autoantibodies against the noncollagenous terminus of the α chain of type VII collagen, resulting in decreased anchoring fibrils in the lamina densa. It classically presents with skin fragility and trauma-induced blisters that are particularly extensive over the distal aspect of ...

In order to evaluate the serum anti-skin autoantibodies and cytokine concentrations in patients with different epidermolysis bullosa (EB) types and severity, 42 EB patients and 38 controls were enrolled. Serum anti-skin antibodies were significantly higher in the patients than in the controls (p = 0.008, p < 0.001, p < 0.001, p < 0.001 and p < 0.001 for desmoglein 1 (DSG1) desmoglein 3 (DSG3), ...

This article is the first in a series of three focusing on the causes, clinical presentation, complications and care of adult patients affected by epidermolysis bullosa (EB), a group of rare genetic skin fragility disorders. Although the condition is rare, in some cases it presents extreme challenges both to those affected and those involved in the care of the EB patient; therefore, these artic...

Epidermolysis Bullosa is a genetic disorder that affects mainly the skin, however, all others systems are influenced. The nutritional care of children and adolescents with Epidermolysis Bullosa is a key treatment strategy, since the energy needs are increased due to the disease's metabolism, burdening the immune system and cicatrization process, symptoms caused by the disease hinder the intake ...

EBS: epidermolysis bullosa simplex INTRODUCTION Botulinum toxin has been used to treat plantar blistering and pain in 7 epidermolysis bullosa simplex patients, includingone child,with excellent but transient success (Table I). Most of these patients were treated with abobotulinumtoxinA, including the indexed pediatric patient. We recently investigated the use of onabotulinumtoxinA to treat epid...