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...

We identified a congenital mechanobullous skin disorder in six calves on a single farm of an endangered German cattle breed in 2010. The condition presented as a large loss of skin distal to the fetlocks and at the mucosa of the muzzle. All affected calves were euthanized on humane grounds due to the severity, extent and progression of the skin and oral lesions. Examination of skin samples unde...

I Gibbs RB, Minus HR. Epidermolysis bullosa acquisita with electron microscopical studies. Arch Dermatol 1975;111:215-20. 2 Yaoita H, Briggaman RA, Lawlev IJ, P'rovost TI', Katz SI. Epidermolysis bullosa acquisita: ultrastructural and immunologic studies. J Invest Dermatol 1981;76:288-92. 3 Epstein JH. Pseudoporphyria and U'A suntan salons [Abstract]. PhotochemPhotobtol 1987;45:40S. 4 Diffev BL...

Epidermolysis bullosa is a genetic mechanobullous disease of the stratified squamous keratinizing epithelium that affects the skin and mucous membranes. Its primary feature is the formation of blisters after minor shearing trauma to the skin or mucous membranes that can result in debilitating, even life-threatening scarring. The disease presents special problems for the anesthesia provider beca...

Three children with an unusual but clearly defined combination of clinical findings that appear to have been inherited in an autosomal recessive manner are described. All had developed laryngeal abnormalities, chronic skin ulceration, nail dystrophy, and conjunctival disease in infancy. In every case, dental enamel was hypoplastic and both skin and mucosal surfaces demonstrated increased suscep...

Epidermolysis bullosa simplex Weber-Cockayne type (EBS-WC) is a genetically inherited skin disease characterized by blistering restricted to the palms and soles. Its inheritance in nearly all kindreds is caused by a dominant-negative mutation in either KRT5 or KRT14, the genes encoding keratin 5 and keratin 14 proteins, respectively. Rarely, recessive mutations have also been found. We describe...

BACKGROUND Epidermolysis bullosa simplex associated with muscular dystrophy is a genetic skin disease caused by plectin deficiency. A case of a 19-year-old Czech patient affected with this disease and a review all previously published clinical cases are presented. MAIN OBSERVATIONS In our patient, skin signs of the disease developed after birth. Bilateral ptosis at the age of 8 years was cons...