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MMP13 can be a useful differentiating marker between squamous cell carcinoma and benign hyperkeratotic lesions in recessive dystrophic epidermolysis bullosa.

[dystrophic epidermolysis bullosa]

Recessive dystrophic epidermolysis bullosa (RDEB) is a severe hereditary mechanobullous disease resulting from mutations in the COL7A1, gene coding for type VII collagen. RDEB patients tend to develop squamous cell carcinomas (SCC) at sites of chronic ulceration or scarring on the whole body. Distinguishing SCC from benign hyperkeratotic lesions is often difficult not only clinically but also histologically in RDEB patients. We investigated several matrix metalloendopeptidase (MMP) subtypes by comparing the DNA amplification microarray findings between evident SCC and benign hyperkeratotic lesion in the same RDEB patient. We report that MMP13 was found to be strongly positive in SCC but negative in benign hyperkeratotic lesions. We found that there is an evident difference in the transitional area between SCC and benign hyperkeratotic lesions. We propose that MMP13 may be a useful differentiating marker between squamous cell carcinoma and benign hyperkeratotic lesions in RDEB. This article is protected by copyright. All rights reserved.