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Recessive dystrophic epidermolysis bullosa (RDEB) is a severe hereditary mechanobullous disease resulting from mutations in the COL7A1 gene, coding for type VII collagen. Patients with RDEB tend to develop squamous cell carcinomas (SCCs) 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 patients with RDEB. We investigated several matrix metallopeptidase (MMP) subtypes by comparing the DNA amplification microarray findings between evident SCCs and benign hyperkeratotic lesions in the same patient with RDEB. We report that MMP13 was found to be strongly positive in SCCs but negative in benign hyperkeratotic lesions. We found that there is an evident difference in the transitional area between SCCs and benign hyperkeratotic lesions. We propose that MMP13 may be a useful differentiating marker between SCC and benign hyperkeratotic lesions in RDEB.

Nagashima-type palmoplantar keratosis (NPPK; MIM#615598) is the most common form of palmoplantar keratodermas (PPKs) in Japan and probably in other East-Asian countries, inherited in an autosomal recessive fashion.(1) NPPK is clinically characterized by hyperkeratosis and erythema on the palms and soles extending to the dorsum of the hands and the feet, the flexor aspects of the wrists and the ankles, and the Achilles tendon areas.(2) Histologic findings include orthokeratotic hyperkeratosis, acanthosis, hypergranulosis and parakeratosis in the lower layers of the stratum corneum (SC).(3) In late 2013, putative loss-of-function mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, were identified as a cause of NPPK. This article is protected by copyright. All rights reserved.