Acta Dermato-Venereologica (Sep 2017)

Epidemiology and Outcome of Squamous Cell Carcinoma in Epidermolysis Bullosa in Australia and New Zealand

  • Minhee Kim,
  • Minmin Li,
  • Lizbeth R.A. Intong-Wheeler,
  • Kim Tran,
  • Damian Marucci,
  • Dedee F. Murrell

DOI
https://doi.org/10.2340/00015555-2781
Journal volume & issue
Vol. 98, no. 1
pp. 70 – 76

Abstract

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We investigate the epidemiology and outcomes of squamous cell carcinoma (SCC) in recessive dystrophic epidermolysis bullosa (RDEB) from the Australasian EB registry cohort. Seventeen out of 49 (34.6%) RDEB patients developed at least one SCC. Data detailing SCC was obtainable from 16/17 RDEB-SCC patients. A total number of 161 primary SCCs occurred in 16 RDEB-SCC patients with a mean of 10 SCCs per person. The earliest age of first SCC development was 16 years. Eleven out of 16 RDEB-SCC patients eventually developed metastatic SCCs. The majority of the tumours were well and moderately differentiated. The cumulative risk of SCC development by age 35 was 76.1% for RDEB-Generalized Severe (RDEB-GS) and 10% for RDEB-Generalized Intermediate (RDEB-GI). Amongst those who developed SCCs, their median time to death after first SCC was 5 years for RDEB-GI and 4 years for RDEB-GS. This is the first retrospective study of RDEB-SCC in Australasia.

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