Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.
Diagnostics (Basel)
; 12(6)2022 May 27.
Article
en En
| MEDLINE
| ID: mdl-35741135
ABSTRACT
Epidermolysis bullosa is a heterogeneous group of rare genetic disorders characterized by mucocutaneous fragility and blister formation after minor friction or trauma. There are four major epidermolysis bullosa types based on the ultrastructural level of tissue cleavage simplex, junctional, dystrophic, and Kindler epidermolysis bullosa. They are caused by mutations in genes that encode the proteins that are part of the hemidesmosomes and focal adhesion complex. Some of these disorders can be associated with extracutaneous manifestations, which are sometimes fatal. They are inherited in an autosomal recessive or autosomal dominant manner. This review is focused on the phenomena of heterogeneity (locus, allelic, mutational, and clinical) in epidermolysis bullosa, and on the correlation genotype-phenotype.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Idioma:
En
Revista:
Diagnostics (Basel)
Año:
2022
Tipo del documento:
Article
País de afiliación:
Rumanía