Conflict of interest: none declared.
Clinical dermatology ● Concise report
Late-onset pretibial recessive dystrophic epidermolysis bullosa
Article first published online: 20 JUN 2013
© 2013 British Association of Dermatologists
Clinical and Experimental Dermatology
Volume 38, Issue 6, pages 630–632, August 2013
How to Cite
Mahto, A., McGrath, J. A., Deroide, F. and Rustin, M. H. A. (2013), Late-onset pretibial recessive dystrophic epidermolysis bullosa. Clinical and Experimental Dermatology, 38: 630–632. doi: 10.1111/ced.12072
- Issue published online: 10 JUL 2013
- Article first published online: 20 JUN 2013
- Manuscript Accepted: 30 SEP 2012
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.