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…
Pathogenic mutations have now been described in ten different desmosomal proteins: plakophilin 1 (PKP1) and 2 (PKP2); desmoplakin; plakoglobin; desmoglein 1, 2, and 4; desmocollin 2, and 3 corneodesmosin. Nevertheless,…
Kindler syndrome is caused by genetic defects in the focal contact–associated protein, fermitin family homologue 1 (FFH1), encoded by the gene FERMT1 (known as KIND1). Defects in FFH1 lead to…
Kindler syndrome (MIM173650) is an autosomal recessive genodermatosis characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity. Loss-of-function mutations in the FERMT1 gene are the cause of Kindler syndrome….
Dystrophic epidermolysis bullosa (DEB) is relatively well understood. Potential therapies are in development. This article describes the pathogenesis and clinical features of DEB. It also describes therapeutic options and the…
