SciELO - Scientific Electronic Library Online

 
vol.87 issue1Breast cancer: 2 case reportsBuschke -Loewenstein tumor: identification of HPV type 6 and 11 author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Anais Brasileiros de Dermatologia

Print version ISSN 0365-0596

Abstract

ALMEIDA JR, Hiram Larangeira de et al. Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy. An. Bras. Dermatol. [online]. 2012, vol.87, n.1, pp. 127-130. ISSN 0365-0596.  http://dx.doi.org/10.1590/S0365-05962012000100017.

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.

Keywords : Epidermolysis bullosa dystrophica; Genetic variation; Microscopy, electron, scanning; Nails; Skin diseases; vesiculobullous.

        · abstract in Portuguese     · text in English     · pdf in English