Late-onset pretibial recessive dystrophic epidermolysis bullosa.
Clin Exp Dermatol
; 38(6): 630-2, 2013 Aug.
Article
en En
| MEDLINE
| ID: mdl-23786535
ABSTRACT
Pretibial epidermolysis bullosa (EB) is a rare form of localized dystrophic EB, characterized by recurrent blistering and scarring plaques occurring predominantly in the pretibial area. In most cases, nail dystrophy, especially of the toenails, is also present. Often there are no clinical abnormalities at birth, and the disorder may only appear after several years. We report a patient who developed symptoms in his fifth decade. Genetic testing identified compound heterozygosity for two pathogenic mutations in the COL7A1 gene. This case highlights a rare variant of mechanobullous disease, and stresses the importance of molecular screening in establishing a correct diagnosis. Precisely why the disorder specifically localizes to the shins or why it may only become apparent in later life is not known.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Epidermólisis Ampollosa Distrófica
Tipo de estudio:
Prognostic_studies
Límite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Clin Exp Dermatol
Año:
2013
Tipo del documento:
Article
País de afiliación:
Reino Unido