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Official Journal of the Italian Society of Dermatology and Sexually Transmitted Diseases
Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,014
Online ISSN 1827-1820
Cozzani E., Sorbara S., Alibrandi B., Rebora A., Parodi A.
Di.S.E.M. Section of Dermatology University of Genoa, Genoa, Italy
Pretibial epidermolysis bullosa (PEB) is a very rare subtype of localized dystrophic epidermolysis bullosa (DEB) characterized by recurring bullae with scarring involving the pretibial area. Clinically PEB should be differentiated from the others forms of localized form of DEB as inverse DEB, DEB pruriginosa (DEBP), and localized DEB. Usually the inheritance pattern of transmission is dominant; however some “sporadic” forms have been reported and also cases in whom a heterozogous for COL7A1 mutation has been reported supporting the notion that a recessive pattern of inheritance can also occur in PEB. We describe an additional patient with PEB whose family history was negative for blistering diseases.