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Inherited epidermolysis bullosa is a skin fragility disorder typified by blister formation following minor trauma. Four major EB types are distinguished based on the level of cleavage within the skin. Among these, epidermolysis bullosa simplex (EBS) is characterized by blister formation within the basal epidermis. EBS is the most heterogeneous EB type with mutations in seven different genes and a spectrum of clinical manifestations, ranging from widespread life-threatening skin and mucosal involvement to mild localized disease forms.
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Journal_of_the_European_Academy_of_Dermatology_and_Venereology_:_JEADV
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Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review.
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