Hamartomatous polyps of Peutz-Jeghers are mostly found in patients affected by Peutz-Jeghers syndrome (PJS), but they can be rarely encountered in the general population. It is unclear whether a solitary Peutz-Jeghers polyp (PJP) is an incomplete form of PJS or a separate entity. We report a case of solitary PJP in a paediatric patient in whom the other features of PJS were absent. The patient underwent laparotomy due to small bowel intussusception secondary to an ileac polyp. Histological examination showed the characteristic features of PJP, but the patient did not fulfill the WHO criteria for PJS diagnosis (negative family history for PJS and absence of mucocutaneous pigmentation); moreover analysis of the STK11/LKB1 gene did not reveal any genomic abnormality. The clinical and investigative findings in our case suggest that the solitary PJP can be considered a different clinical entity from PJS.

Retrosi, G., Nanni, L., Vecchio, F. M., Manzoni, C., Canali, R., Busato, G., Pintus, C., Solitary Peutz-Jeghers Polyp in a Paediatric Patient, <<CASE REPORTS IN GASTROENTEROLOGY>>, 2010; 4 (3): 452-456. [doi:10.1159/000321573] [http://hdl.handle.net/10807/61356]

Solitary Peutz-Jeghers Polyp in a Paediatric Patient

Retrosi, Giuseppe;Nanni, Lorenzo;Vecchio, Fabio Maria;Manzoni, Carlo;Canali, Raffaella;Pintus, Claudio
2010

Abstract

Hamartomatous polyps of Peutz-Jeghers are mostly found in patients affected by Peutz-Jeghers syndrome (PJS), but they can be rarely encountered in the general population. It is unclear whether a solitary Peutz-Jeghers polyp (PJP) is an incomplete form of PJS or a separate entity. We report a case of solitary PJP in a paediatric patient in whom the other features of PJS were absent. The patient underwent laparotomy due to small bowel intussusception secondary to an ileac polyp. Histological examination showed the characteristic features of PJP, but the patient did not fulfill the WHO criteria for PJS diagnosis (negative family history for PJS and absence of mucocutaneous pigmentation); moreover analysis of the STK11/LKB1 gene did not reveal any genomic abnormality. The clinical and investigative findings in our case suggest that the solitary PJP can be considered a different clinical entity from PJS.
2010
Inglese
Retrosi, G., Nanni, L., Vecchio, F. M., Manzoni, C., Canali, R., Busato, G., Pintus, C., Solitary Peutz-Jeghers Polyp in a Paediatric Patient, <<CASE REPORTS IN GASTROENTEROLOGY>>, 2010; 4 (3): 452-456. [doi:10.1159/000321573] [http://hdl.handle.net/10807/61356]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/61356
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