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.
journal_name
Pediatr Dermatoljournal_title
Pediatric dermatologyauthors
Boccaletti V,Zambruno G,Castiglia D,Magnani C,Tognetti E,Fabrizi G,Cortelazzi C,Pagliarello C,Di Nuzzo Sdoi
10.1111/pde.12513subject
Has Abstractpub_date
2015-03-01 00:00:00pages
e42-7issue
2eissn
0736-8046issn
1525-1470journal_volume
32pub_type
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journal_title:Pediatric dermatology
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