{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T22:56:27Z","timestamp":1769813787555,"version":"3.49.0"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,8,17]],"date-time":"2006-08-17T00:00:00Z","timestamp":1155772800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:p>Dystrophic epidermolysis bullosa (DEB) pruriginosa (DEB\u2010Pr) is a rare variant of DEB due to COL7A1 dominant and recessive mutations, which is characterized by severe itching and lichenoid or nodular prurigo\u2010like lesions, mainly involving the extremities. Less than 30 patients have been described showing variable disease expression, and frequently, delayed age of onset. We report the clinical and molecular characterization of seven Italian DEB patients, three affected with recessive DEB\u2010Pr and four with dominant DEB\u2010Pr. In all the patients, the signs were typical of a mild DEB phenotype, until the onset of pruritus, which was followed by worsening of the clinical picture, with appearance of the distinctive lichenified lesions of DEB\u2010Pr. Nine mutations were found in the COL7A1 gene, three of which were novel and one was <jats:italic>de novo<\/jats:italic>. DEB\u2010Pr patients with either dominant or recessive mutations were shown to synthesize a normal or variably reduced amount of type VII collagen, which was correctly deposited at the dermal\u2013epidermal junction. Since six of these mutations have been reported in DEB patients in the absence of intense pruritus, these data implicate a role of yet unidentified phenotype\u2010modifying factors in the pathogenesis of DEB\u2010Pr.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00679.x","type":"journal-article","created":{"date-parts":[[2006,8,17]],"date-time":"2006-08-17T12:23:12Z","timestamp":1155817392000},"page":"339-347","source":"Crossref","is-referenced-by-count":29,"title":["Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular 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