“Nails Only” Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex

Epidermolysis bullosa (EB) is a heterogeneous group of rare, chronic, inherited skin disorders characterized by marked mechanical fragility of epithelial tissues, with blistering and erosions after minor trauma. We present the first report of a nails‐only phenotype in two patients with epidermolysis...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Pediatric dermatology 2017-07, Vol.34 (4), p.e205-e206
Hauptverfasser:	González‐Cantero, Álvaro, Sánchez‐Moya, Ana Isabel, Pérez‐Hortet, Cristina, Martínez‐Lorenzo, Elena, Gómez‐Dorado, Blas, Schoendorff‐Ortega, Cristina
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Child Epidermolysis bullosa Epidermolysis Bullosa Simplex - genetics Female Genetic counseling Heredity Humans Keratin-5 - genetics Male Mutation Nails (Anatomy) Nails - pathology Phenotype Trauma
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!