Late-onset pretibial recessive dystrophic epidermolysis bullosa

A. Mahto, J. A. McGrath, F. Deroide, M. H.A. Rustin

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)630-632
Number of pages3
JournalClinical and Experimental Dermatology
Issue number6
Publication statusPublished - 2013 Aug

All Science Journal Classification (ASJC) codes

  • Dermatology


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