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

doi:10.1111/pde.12513

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 journal › Article › peer-review

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 language	English
Pages (from-to)	e42-e47
Journal	Pediatric Dermatology
Volume	32
Issue number	2
DOIs	https://doi.org/10.1111/pde.12513
Publication status	Published - Mar 1 2015

ASJC Scopus subject areas

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

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10.1111/pde.12513

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Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen. / Boccaletti, Valeria; Zambruno, Giovanna; Castiglia, Daniele; Magnani, Cinzia; Tognetti, Elena; Fabrizi, Giuseppe; Cortelazzi, Chiara; Pagliarello, Calogero; Di Nuzzo, Sergio.

In: Pediatric Dermatology, Vol. 32, No. 2, 01.03.2015, p. e42-e47.

Research output: Contribution to journal › Article › peer-review

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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.",

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AU - Castiglia, Daniele

AU - Magnani, Cinzia

AU - Tognetti, Elena

AU - Fabrizi, Giuseppe

AU - Cortelazzi, Chiara

AU - Pagliarello, Calogero

AU - Di Nuzzo, Sergio

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AB - 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.

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

Abstract

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