CASE REPORT
Hindquarter Amputation as a Successful Treatment of Chronic Pain in an Adolescent with PTEN Hamartoma Tumor Syndrome
Fiona J Taverner1, Nicole E Wylie1, Lachlan DM Farmer2, Christopher P Barnett3, Ping HJ Yeung4, Laura L Burgoyne*, 1
Article Information
Identifiers and Pagination:
Year: 2023Volume: 16
E-location ID: e187638632303310
Publisher ID: e187638632303310
DOI: 10.2174/18763863-v16-23005050-2022-9
Article History:
Received Date: 31/08/2022Revision Received Date: 07/02/2023
Acceptance Date: 21/03/2023
Electronic publication date: 29/05/2023
Collection year: 2023
open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Abstract
Background:
The PTEN hamartoma tumor syndrome comprises a group of rare conditions caused by germline mutations of the tumor suppressor gene PTEN (Phosphatase and TENsin homolog deleted on chromosome 10). They include Cowden syndrome, Lhermitte-Duclos disease, and Bannayan–Riley–Ruvalcaba syndrome, but it appears likely that these conditions represent the spectrum of PTEN hamartoma tumor syndrome, in which penetrance and clinical variability play significant roles. The clinical features of PTEN hamartoma tumor syndrome vary between individuals and can appear at any age. They include an increased risk for certain types of cancers and benign tumors, as well as tumor-like malformations (hamartomas) and neurodevelopmental disorders.
Case Presentation:
We report the case of an adolescent male with PTEN hamartoma tumor syndrome who developed severe chronic pain in the context of multiple arteriovenous malformations of the left lower limb. He successfully underwent hindquarter amputation to manage a nonhealing ulcer, recurrent episodes of life-threatening hemorrhage, and escalating analgesic requirements. He had a remarkable recovery with neither pain nor phantom sensory issues and significant improvement in his quality of life.
Conclusion:
Despite chronic preoperative pain, the radical surgery in this patient with PTEN hamartoma tumor syndrome resulted in an improved quality of life and virtually no long-term pain or analgesia requirements.
