title: 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.
authors: Department of Dermatology, Parma University Hospital, Parma, Italy.
authors: Valeria
authors: V
authors: Boccaletti
authors: Giovanna
authors: G
authors: Zambruno
authors: Daniele
authors: D
authors: Castiglia
authors: Cinzia
authors: C
authors: Magnani
authors: Elena
authors: E
authors: Tognetti
authors: Giuseppe
authors: G
authors: Fabrizi
authors: Chiara
authors: C
authors: Cortelazzi
authors: Calogero
authors: C
authors: Pagliarello
authors: Sergio
authors: S
authors: Di Nuzzo
mesh_terms: D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D008991:Monitoring, Physiologic; D020125:Mutation, Missense; D012075:Remission, Spontaneous; D012494:Sampling Studies; D012720:Severity of Illness Index; D035781:Siblings
chemical_list: D024143:Collagen Type VII