Plectin is an important organizer of the keratin filament cytoskeleton in basal keratinocytes. It is essential for anchoring these filaments to the extracellular matrix via hemidesmosomal integrins. Loss of plectin…
Quality of life (QOL) evaluation in epidermolysis bullosa (EB) has important applications in clinical management, patient advocacy, clinical research, and the development of new treatments. Several new quantitative and qualitative…
Epidermolysis bullosa (EB) nevi are large, eruptive, asymmetrical, often irregularly pigmented melanocytic lesions. Such nevi may give rise to small satellite nevi surrounding the primary nevus, and thus frequently manifest…
Patients with recessive dystrophic epidermolysis bullosa develop numerous life-threatening skin cancers. The reasons for this remain unclear. Parallels exist with other scarring skin conditions, such as Marjolin ulcer. We summarize…
Hair abnormalities observed in epidermolysis bullosa (EB) are of variable severity and include mild hair shaft abnormalities, patchy cicatricial alopecia, cicatricial alopecia with a male pattern distribution, and alopecia universalis….
Nail abnormalities are a common feature in most subtypes of epidermolysis bullosa (EB), and they recently have been included among the criteria for scoring EB severity. Trauma undoubtedly contributes to…
The craniofacial and oral manifestations of the different epidermolysis bullosa (EB) types vary markedly in character and severity depending largely on the EB type. The tissues affected and the phenotypes…
Eye involvement in inherited epidermolysis bullosa (EB) can occur as a spectrum of symptoms and signs. This article describes these signs and symptoms. It also offers options for treatment. Eye…
For more than 2 decades, animal models have been used to clarify the pathogenic mechanisms of human diseases and develop new therapeutics for these diseases. Several therapies for human diseases…
Lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessive disorder caused by mutations in the gene encoding the desmosomal protein, desmoplakin (DSP). It is recognized as a distinct form of…
