Inheritance in epidermolysis bullosa letalis.

Inheritance in epidermolysis bullosa letalis.

Epidermolysis bullosa hereditaria letalis: report of a case surviving for two and a half years.

Epidermolysis bullosa is a chronic hereditary disease of unknown aetiology involving the skin and mucous membranes. It is characterized by the formation of multiple superficial vesicles and bullae which develop spontaneously or as a result of minimal trauma. The disease may occur in varying grades of severity but there is one form with distinct characteristics which has been classified as epide...

Epidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa.

OBJECTIVE To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia. DESIGN Observational study (cross-sectional and longitudinal). SETTING Australian private dermatology practice, inpatient ward, and outpatient clinic. PATIENTS Systematic case finding of patients with EB simplex, junctional EB (JEB...

Epidermolysis bullosa acquisita.

Autoimmunity to type-WI collagen is characterized by autoantibodies predominantly of lgG class to the non-collagenous domain of type-WI collagen present in the anchoring fibrils which bind basement membrane lamina densa to the anchoring plaques in the dermis. This results in a sublami.na densa split with a blister formation. Type WI collagen autoim.munity is heterogenous in its clinical spectru...

Junctional epidermolysis bullosa.

Epidermolysis bullosa (EB) encompasses a heterogeneous group of genodermatoses, characterized by fragility and blistering of the skin, often associated with extracutaneous manifestations. The level of vesiculation within the skin defines 3 major subtypes of EB: EB simplex, junctional EB, and dystrophic EB. We present the case of a male neonate of 36 weeks of gestation, who was born with a few b...