Genetic syndromes with skin fragility represent a heterogeneous group of very rare
disorders caused by mutations in genes encoding proteins or protein subunits important for
the mechanical resistance of keratinocytes and for cell–cell or cell–extracellular matrix
adhesion. The common symptoms are skin blistering or peeling, with various degrees of
severity and distribution, ranging from localized to generalized forms. Associated features
include involvement of skin annexes, mucous membranes, teeth, muscles or the digestive …