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Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature.

Familial cancer - 15 Nov 2024

Gonzalez Maria Laura, Vazquez Carolina, Argüero Maria J, Santino Juan P, Braslavsky Ana, Serra Marcelo M

Abstract excerpt

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal vascular dysplasia characterized by the presence of mucocutaneous telangiectasia and arteriovenous malformations in solid organs. The Curaçao criteria and/or detection of ALK1, ENG, and SMAD4 gene mutations are used for diagnosis. Juvenile Polyposis Syndrome (JPS) is diagnosed according to the number and localization of juvenile polyps, and family...

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Identifiers

PMID: 39546055
DOI: 10.1007/s10689-024-00425-9

Genes

SMAD4
ENG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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