Arteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case series.
Pediatr Dermatol
; 41(2): 292-295, 2024.
Article
em En
| MEDLINE
| ID: mdl-37800459
ABSTRACT
High-flow vascular malformations have been associated with multiple syndromes including capillary malformation-arteriovenous malformation (CM-AVM) syndrome, hereditary hemorrhagic telangiectasia syndrome, and less commonly, phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We present a series of three patients with clinically challenging complex AVMs who were found to have underlying PHTS. In all patients, diagnosis was delayed, and the presence of the AVM prompted sampling and genetic testing for PHTS in the absence of other clinical features of the condition. This series highlights the importance of screening for PHTS in the setting of high-flow vascular malformations.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Malformações Arteriovenosas
/
Telangiectasia Hemorrágica Hereditária
/
Síndrome do Hamartoma Múltiplo
/
Capilares
/
Mancha Vinho do Porto
/
Malformações Vasculares
Limite:
Humans
Idioma:
En
Revista:
Pediatr Dermatol
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Estados Unidos