title: Late-onset pretibial recessive dystrophic epidermolysis bullosa.
abstract: Pretibial epidermolysis bullosa (EB) is a rare form of localized dystrophic EB, characterized by recurrent blistering and scarring plaques occurring predominantly in the pretibial area. In most cases, nail dystrophy, especially of the toenails, is also present. Often there are no clinical abnormalities at birth, and the disorder may only appear after several years. We report a patient who developed symptoms in his fifth decade. Genetic testing identified compound heterozygosity for two pathogenic mutations in the COL7A1 gene. This case highlights a rare variant of mechanobullous disease, and stresses the importance of molecular screening in establishing a correct diagnosis. Precisely why the disorder specifically localizes to the shins or why it may only become apparent in later life is not known.
authors.affiliation: Department of Dermatology, Royal Free Hospital, London, UK. anjalimahto@hotmail.com
authors.forename: A
authors.initials: A
authors.lastname: Mahto
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.forename: F
authors.initials: F
authors.lastname: Deroide
authors.forename: M H A
authors.initials: MH
authors.lastname: Rustin
mesh_terms: D017668:Age of Onset; D024143:Collagen Type VII / Q000235:genetics; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics / Q000473:pathology*; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D013977:Tibia
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII