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Peutz-Jeghers Syndrome Presenting With Anemia: A Case Report

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant condition characterized by hamartomatous polyps, primarily in the gastrointestinal tract and mucocutaneous pigmented macules. PJS patients are at an increased lifetime risk of malignancies and complications, such as gastrointestinal bleeding...

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Detalles Bibliográficos
Autores principales: Shakil, Sidra, Aldaher, Zackery, DiValentin, Louis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9339141/
https://www.ncbi.nlm.nih.gov/pubmed/35919209
http://dx.doi.org/10.7759/cureus.26481
Descripción
Sumario:Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant condition characterized by hamartomatous polyps, primarily in the gastrointestinal tract and mucocutaneous pigmented macules. PJS patients are at an increased lifetime risk of malignancies and complications, such as gastrointestinal bleeding from polyposis. Routine screening is critical in patients diagnosed with PJS in order to avoid complications. We report a case of a 30-year-old female with PJS who had no family history presenting acutely due to gastrointestinal bleeding and poor surveillance of her condition.