Dystrophic epidermolysis bullosa pruriginosa in Italy: Clinical and molecular characterization

B. Drera, D. Castiglia, N. Zoppi, R. Gardella, G. Tadini, G. Floriddia, N. de Luca, C. Pedicelli, S. Barlati, G. Zambruno, M. Colombi

Research output: Contribution to journalArticlepeer-review

Abstract

Dystrophic epidermolysis bullosa (DEB) pruriginosa (DEB-Pr) is a rare variant of DEB due to COL7A1 dominant and recessive mutations, which is characterized by severe itching and lichenoid or nodular prurigo-like 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-Pr and four with dominant DEB-Pr. 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-Pr. Nine mutations were found in the COL7A1 gene, three of which were novel and one was de novo. DEB-Pr 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-epidermal 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-modifying factors in the pathogenesis of DEB-Pr.

Original languageEnglish
Pages (from-to)339-347
Number of pages9
JournalClinical Genetics
Volume70
Issue number4
DOIs
Publication statusPublished - Oct 2006

Keywords

  • COL7A1
  • Dermal
  • Dystrophic epidermolysis bullosa pruriginosa
  • Epidermal junction
  • Mutation detection

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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