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

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 Dermatol

journal_title

Pediatric dermatology

authors

Boccaletti V,Zambruno G,Castiglia D,Magnani C,Tognetti E,Fabrizi G,Cortelazzi C,Pagliarello C,Di Nuzzo S

doi

10.1111/pde.12513

subject

Has Abstract

pub_date

2015-03-01 00:00:00

pages

e42-7

issue

2

eissn

0736-8046

issn

1525-1470

journal_volume

32

pub_type

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