Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen

Valeria Boccaletti, Giovanna Zambruno, Daniele Castiglia, Cinzia Magnani, Elena Tognetti, Giuseppe Fabrizi, Chiara Cortelazzi, Calogero Pagliarello, Sergio Di Nuzzo

Research output: Contribution to journalArticle

Abstract

Bullous dermolysis of the newborn is a dominant or recessive inherited subtype of dystrophic epidermolysis bullosa characterized by the tendency to spontaneously stop blistering within the first months of life. Here we report two siblings with bullous dermolysis of the newborn who were born prematurely and have a novel recessive mutation, p.Pro2259Leu, in the triple helix domain of type VII collagen. We discuss the possible relationship between genotype and prematurity and clinical manifestations in these patients.

Original languageEnglish
Pages (from-to)e42-e47
JournalPediatric Dermatology
Volume32
Issue number2
DOIs
Publication statusPublished - Mar 1 2015

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ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

Boccaletti, V., Zambruno, G., Castiglia, D., Magnani, C., Tognetti, E., Fabrizi, G., Cortelazzi, C., Pagliarello, C., & Di Nuzzo, S. (2015). Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen. Pediatric Dermatology, 32(2), e42-e47. https://doi.org/10.1111/pde.12513