title: Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy.
abstract: In dystrophic epidermolysis bullosa, the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane and its consequent loss. A 46 year-old female patient presented blisters with a pretibial distribution associated with nail dystrophy. Her two children had hyponychia and anonychia, which affected all toe nails and the thumb, forefinger and middle finger. DNA sequencing identified in exon 75 of COL7A1 gene a pathologic mutation: c.6235G>A (p.Gly2079Arg). Immunomapping of a blister demonstrated collagen IV (basal membrane) in the blister roof and collagen VII in its floor, confirming dystrophic epidermolysis bullosa. Scanning electron microscopy of an inverted blister showed net-forming collagen attached to the blister roof . The variability found in this family has already been reported and confirms, on a clinical basis, the nail subtype as a dystrophic variant.
authors.affiliation: Federal and Catholic University of Pelotas, RS, Brazil. hiramalmeidajr@hotmail.com
authors.forename: Hiram Larangeira de
authors.initials: HL
authors.lastname: Almeida
authors.forename: Luciane Maria Alves
authors.initials: LM
authors.lastname: Monteiro
authors.forename: Fernanda Mendes
authors.initials: FM
authors.lastname: Goetze
authors.forename: Ricardo Marques e
authors.initials: RM
authors.lastname: Silva
authors.forename: Nara Moreira
authors.initials: NM
authors.lastname: Rocha
mesh_terms: D001768:Blister / Q000473:pathology; D002648:Child; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D008855:Microscopy, Electron, Scanning; D008875:Middle Aged; D009260:Nail Diseases / Q000235:genetics / Q000473:pathology