R Mallipeddi and FM Keane contributed equally to this paper.
Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa
Article first published online: 18 MAY 2004
Journal of the European Academy of Dermatology and Venereology
Volume 18, Issue 5, pages 521–526, September 2004
How to Cite
Mallipeddi, R., Keane, F., McGrath, J., Mayou, B. and Eady, R. (2004), Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa. Journal of the European Academy of Dermatology and Venereology, 18: 521–526. doi: 10.1111/j.1468-3083.2004.00968.x
- Issue published online: 2 JUL 2004
- Article first published online: 18 MAY 2004
- Received: 20 February 2003, accepted 14 May 2003
- laminin 5;
- skin cancer
Non-Herlitz junctional epidermolysis bullosa (JEB) is an autosomal recessive genodermatosis characterized by skin fragility and blistering. It is usually caused by mutations in the genes encoding the basement membrane proteins laminin 5 or type XVII collagen. Clinically, impaired wound healing and chronic erosions cause major morbidity in affected patients. Previously it was thought that these individuals, unlike patients with dystrophic EB, did not have an increased risk of developing skin cancer. However, we describe three patients with non-Herlitz JEB (aged 42, 56 and 75 years) who developed cutaneous squamous cell carcinomas (SCCs). The tumours were well-differentiated in two cases, but one patient had multiple primary SCCs that were either well- or moderately differentiated. Most cases of SCC in non-Herlitz JEB described have occurred in those with laminin 5 defects and on the lower limbs. These clinicopathological observations have important implications for the management of patients with this mechanobullous disorder as well as providing further insight into the biology of skin cancer associated with chronic inflammation and scarring.