Recessive dystrophic epidermolysis bullosa-associated squamous-cell carcinoma: an enigmatic entity with complex pathogenesis

Ulrich Rodeck; Jouni Uitto

doi:10.1038/sj.jid.5700939

Recessive dystrophic epidermolysis bullosa-associated squamous-cell carcinoma: an enigmatic entity with complex pathogenesis

J Invest Dermatol. 2007 Oct;127(10):2295-6. doi: 10.1038/sj.jid.5700939.

Authors

Ulrich Rodeck¹, Jouni Uitto

Affiliation

¹ Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA. Ulrich.Rodeck@mail.tju.edu

PMID: 17853916
DOI: 10.1038/sj.jid.5700939

Abstract

Expression of either collagen VII or the noncollagenous (NC1) fragment derived from it has been suggested to be indispensable for the development of squamous-cell carcinomas (SCCs) in patients affected by recessive dystrophic epidermolysis bullosa (RDEB). This view is challenged here by the observation that SCCs do develop in RDEB patients lacking expression of collagen VII altogether. The aggressive behavior of RDEB-associated SCCs remains unexplained.

Publication types

Comment

MeSH terms

Carcinoma, Squamous Cell / etiology*
Carcinoma, Squamous Cell / genetics
Carcinoma, Squamous Cell / metabolism
Cell Transformation, Neoplastic / genetics
Collagen Type VII / genetics
Collagen Type VII / metabolism
Epidermolysis Bullosa Dystrophica / complications*
Epidermolysis Bullosa Dystrophica / genetics
Epidermolysis Bullosa Dystrophica / metabolism
Genetic Predisposition to Disease
Humans
Mutation / genetics
Risk Factors
Skin Neoplasms / etiology*
Skin Neoplasms / genetics
Skin Neoplasms / metabolism

Substances

Collagen Type VII