Gorlin-Like Phenotype in a Young Girl With a De Novo PTCH2 Variant Mutation of Uncertain Significance.
Am J Dermatopathol
; 46(4): 247-251, 2024 Apr 01.
Article
em En
| MEDLINE
| ID: mdl-38354379
ABSTRACT
ABSTRACT Gorlin syndrome, also known as basal cell nevus syndrome, is an autosomal dominant genetic disorder that predisposes humans to tumors. In most cases, this syndrome results from inactivating mutations in the patched homologue 1 gene. Basal cell carcinomas are one of the main characteristics of this syndrome and serve as a major diagnostic criterion. Gorlin syndrome shows a variable phenotype, and recently, other less common mutations in the suppressor of fused homologue or patched homologue 2 genes have been documented in individuals with this syndrome. We present the case of a patient with early-onset basal cell carcinomas and a mild Gorlin syndrome phenotype, attributed to a de novo patched homologue 2 variant of uncertain significance, which has not been previously reported in the literature.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome do Nevo Basocelular
Limite:
Female
/
Humans
Idioma:
En
Revista:
Am J Dermatopathol
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Espanha