Pelvic Vascular Malformations and Recurrent Rectal Prolapse in a Patient With Maffucci Syndrome: A Diagnostic and Therapeutic Challenge

Maffucci syndrome is an extremely rare congenital condition characterized by the development of multiple enchondromas and haemangiomas, primarily on the extremities, and an association with various tumors. Colonic and pelvic floor function has never been explored in patients with Maffucci syndrome....

Descripción completa

Detalles Bibliográficos
Autores principales: Sciberras, Peter, Calleja, Rebecca, Bugeja, Rebecca, Montebello, Gloria, Camilleri-Brennan, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10270431/
https://www.ncbi.nlm.nih.gov/pubmed/37332422
http://dx.doi.org/10.7759/cureus.39095
_version_ 1785059318330032128
author Sciberras, Peter
Calleja, Rebecca
Bugeja, Rebecca
Montebello, Gloria
Camilleri-Brennan, John
author_facet Sciberras, Peter
Calleja, Rebecca
Bugeja, Rebecca
Montebello, Gloria
Camilleri-Brennan, John
author_sort Sciberras, Peter
collection PubMed
description Maffucci syndrome is an extremely rare congenital condition characterized by the development of multiple enchondromas and haemangiomas, primarily on the extremities, and an association with various tumors. Colonic and pelvic floor function has never been explored in patients with Maffucci syndrome. We report a case illustrating the challenges in managing colonic and pelvic floor dysfunction in a female patient secondary to vascular malformations as part of Maffucci syndrome.
format Online
Article
Text
id pubmed-10270431
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Cureus
record_format MEDLINE/PubMed
spelling pubmed-102704312023-06-16 Pelvic Vascular Malformations and Recurrent Rectal Prolapse in a Patient With Maffucci Syndrome: A Diagnostic and Therapeutic Challenge Sciberras, Peter Calleja, Rebecca Bugeja, Rebecca Montebello, Gloria Camilleri-Brennan, John Cureus Genetics Maffucci syndrome is an extremely rare congenital condition characterized by the development of multiple enchondromas and haemangiomas, primarily on the extremities, and an association with various tumors. Colonic and pelvic floor function has never been explored in patients with Maffucci syndrome. We report a case illustrating the challenges in managing colonic and pelvic floor dysfunction in a female patient secondary to vascular malformations as part of Maffucci syndrome. Cureus 2023-05-16 /pmc/articles/PMC10270431/ /pubmed/37332422 http://dx.doi.org/10.7759/cureus.39095 Text en Copyright © 2023, Sciberras et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Sciberras, Peter
Calleja, Rebecca
Bugeja, Rebecca
Montebello, Gloria
Camilleri-Brennan, John
Pelvic Vascular Malformations and Recurrent Rectal Prolapse in a Patient With Maffucci Syndrome: A Diagnostic and Therapeutic Challenge
title Pelvic Vascular Malformations and Recurrent Rectal Prolapse in a Patient With Maffucci Syndrome: A Diagnostic and Therapeutic Challenge
title_full Pelvic Vascular Malformations and Recurrent Rectal Prolapse in a Patient With Maffucci Syndrome: A Diagnostic and Therapeutic Challenge
title_fullStr Pelvic Vascular Malformations and Recurrent Rectal Prolapse in a Patient With Maffucci Syndrome: A Diagnostic and Therapeutic Challenge
title_full_unstemmed Pelvic Vascular Malformations and Recurrent Rectal Prolapse in a Patient With Maffucci Syndrome: A Diagnostic and Therapeutic Challenge
title_short Pelvic Vascular Malformations and Recurrent Rectal Prolapse in a Patient With Maffucci Syndrome: A Diagnostic and Therapeutic Challenge
title_sort pelvic vascular malformations and recurrent rectal prolapse in a patient with maffucci syndrome: a diagnostic and therapeutic challenge
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10270431/
https://www.ncbi.nlm.nih.gov/pubmed/37332422
http://dx.doi.org/10.7759/cureus.39095
work_keys_str_mv AT sciberraspeter pelvicvascularmalformationsandrecurrentrectalprolapseinapatientwithmaffuccisyndromeadiagnosticandtherapeuticchallenge
AT callejarebecca pelvicvascularmalformationsandrecurrentrectalprolapseinapatientwithmaffuccisyndromeadiagnosticandtherapeuticchallenge
AT bugejarebecca pelvicvascularmalformationsandrecurrentrectalprolapseinapatientwithmaffuccisyndromeadiagnosticandtherapeuticchallenge
AT montebellogloria pelvicvascularmalformationsandrecurrentrectalprolapseinapatientwithmaffuccisyndromeadiagnosticandtherapeuticchallenge
AT camilleribrennanjohn pelvicvascularmalformationsandrecurrentrectalprolapseinapatientwithmaffuccisyndromeadiagnosticandtherapeuticchallenge

Ejemplares similares