Annals of medicine
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A key function of human skin is the formation of a structural barrier against the external environment. In part, this is achieved through the formation of a cornified cell envelope derived from a stratified squamous epithelium attached to an epithelial basement membrane. Resilient in health, the structural integrity of skin can become impaired or break down in a collection of inherited skin diseases, referred to as the blistering genodermatoses. ⋯ In recent years, an improved understanding of the molecular basis of the blistering genodermatoses has led to better disease classification and genetic counselling. For patients, this has also advanced translational research with the advent of new clinical trials of gene, protein, cell, drug, and small molecule therapies. Although curing inherited blistering skin diseases still remains elusive, significant improvements in patients' quality of life are already being achieved.