Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

Immunological mapping in hereditary epidermolysis bullosa.

Immunological mapping, an immunofluorescence technique, is currently the method most used to diagnose and differentiate the principal types of hereditary epidermolysis bullosa, since this technique is capable of determining the level of cleavage of this mechanobullous disease.

Immunofluorescence antigen mapping for hereditary epidermolysis bullosa.

Epidermolysis bullosa (EB) is a group of inherited, mechanobullous disorders that are caused by mutations in the structural proteins in the epidermis or dermoepidermal junction. Characteristic clinical picture is the presence of blisters at trauma prone areas of the body, which develops at or soon after birth. Availability of specific monoclonal antibodies against the target proteins together w...

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...

Junctional epidermolysis bullosa with LAMB3 splice-site mutations.

A Newborn with Epidermolysis Bullosa

Bullous disorders of newborn are a rare entity. Genetically inherited bullous disorders, especially the dystrophic and junctional types have a fatal course (1). Breach of the epidermis in the newborn predisposes them to sepsis.