Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.
Pediatr Dev Pathol
; 21(6): 580-584, 2018.
Article
em En
| MEDLINE
| ID: mdl-29504492
ABSTRACT
Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of EB which is characterized by intense pruritus with blistering and nodular or lichenoid lesions most prominent on the lower extremities. It is caused by variants in COL7A1 which encodes for type VII collagen. There is wide phenotypic and genotypic variability between affected individuals. We report 2 potentially pathogenic variants in COL7A1 occurring on the same allele in a family with EBP and autosomal dominant inheritance. Late-onset EBP and incomplete penetrance may lead to delayed presentation in affected family members with the same variants. The broad phenotypic variability seen in EBP suggests that further genotypic and environmental factors may influence presentation. Genetic and histopathological diagnosis is essential, given the considerable overlap with clinically similar presentations such as hypertrophic lichen planus.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Epidermólise Bolhosa Distrófica
/
Mutação de Sentido Incorreto
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Colágeno Tipo VII
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Heterozigoto
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Dev Pathol
Assunto da revista:
PATOLOGIA
/
PEDIATRIA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Reino Unido