Pretibial dystrophic epidermolysis bullosa
An. bras. dermatol
;
92(5,supl.1): 126-128, 2017. graf
Artículo
en Inglés
| LILACS
| ID: biblio-887097
ABSTRACT
Abstract Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main constituent of anchoring fibrils. In this group, there are autosomal dominant and recessive inheritances. The pre-tibial form is characterized by the presence of blisters, milia, atrophic scars and lesions similar to lichen planus. The diagnosis is clinical and laboratory and subtypes are distinguished by means of immunohistochemical and ultrastructural studies, in addition to genetic differentiation. Electron microscopy and immunomapping are used in the diagnosis.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Epidermólisis Ampollosa Distrófica
Tipo de estudio:
Estudio diagnóstico
Límite:
Adulto
/
Femenino
/
Humanos
Idioma:
Inglés
Revista:
An. bras. dermatol
Asunto de la revista:
Dermatologia
Año:
2017
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Santa Casa de Misericórdia de São Paulo/BR
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