Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa

Authors

  • R Mallipeddi,

    1. Genetic skin disease group, Guy’s, King's and St Thomas’ School of Medicine, St John's Institute of Dermatology, St Thomas’ Hospital, London SE1 7EH,
    Search for more papers by this author
  • FM Keane,

    1. Genetic skin disease group, Guy’s, King's and St Thomas’ School of Medicine, St John's Institute of Dermatology, St Thomas’ Hospital, London SE1 7EH,
    Search for more papers by this author
  • JA McGrath,

    1. Genetic skin disease group, Guy’s, King's and St Thomas’ School of Medicine, St John's Institute of Dermatology, St Thomas’ Hospital, London SE1 7EH,
    Search for more papers by this author
  • BJ Mayou,

    1. Lister Hospital, Chelsea Bridge Road, London SW1W 8RH, UK.
    Search for more papers by this author
  • RAJ Eady

    Corresponding author
    1. Genetic skin disease group, Guy’s, King's and St Thomas’ School of Medicine, St John's Institute of Dermatology, St Thomas’ Hospital, London SE1 7EH,
      *Corresponding author, tel. +44 (0)20 7188 7188 ext 86428; fax +44 (0)20 7188 6379; E-mail: robin.eady@kcl.ac.uk
    Search for more papers by this author

  • R Mallipeddi and FM Keane contributed equally to this paper.

*Corresponding author, tel. +44 (0)20 7188 7188 ext 86428; fax +44 (0)20 7188 6379; E-mail: robin.eady@kcl.ac.uk

ABSTRACT

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.

Ancillary