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Exploring tonsil pathology in PTEN hamartoma syndrome: a cohort study

by Amonoo-Kuofi, Kwamena , Patel, Nimesh N. , Jayakody, Nimeshi , Lachlan, Katherine L. , Findlay, Callum , Cairns, Lauren M.

in Adenoidectomy / Adolescent / Adult / Age / Airway management / Apnea / Case reports / Child / Child development / Child, Preschool / Cohort Studies / Complications / Families & family life / Family medical history / Female / Genetic disorders / Hamartoma Syndrome, Multiple - genetics / Hamartoma Syndrome, Multiple - pathology / Hamartoma Syndrome, Multiple - surgery / Histology / Humans / Hyperplasia / Infant / Main / Main Article / Male / Neoplasia / Otolaryngology / Palatine Tonsil - pathology / Palatine Tonsil - surgery / Pathology / Patients / Postoperative / PTEN Phosphohydrolase - genetics / PTEN protein / Sleep apnea / Sleep Apnea, Obstructive - surgery / Sleep disorders / Surgeons / Throat surgery / Thyroid gland / Tonsillectomy / Tonsillitis / Tonsillitis - pathology / Tonsillitis - surgery / Young Adult

2024

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Exploring tonsil pathology in PTEN hamartoma syndrome: a cohort study

by Amonoo-Kuofi, Kwamena , Patel, Nimesh N. , Jayakody, Nimeshi , Lachlan, Katherine L. , Findlay, Callum , Cairns, Lauren M.

2024

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Exploring tonsil pathology in PTEN hamartoma syndrome: a cohort study

by Amonoo-Kuofi, Kwamena , Patel, Nimesh N. , Jayakody, Nimeshi , Lachlan, Katherine L. , Findlay, Callum , Cairns, Lauren M.

2024

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Journal Article

Exploring tonsil pathology in PTEN hamartoma syndrome: a cohort study

Amonoo-Kuofi, Kwamena,

Patel, Nimesh N.,

Jayakody, Nimeshi,

Lachlan, Katherine L.,

Findlay, Callum,

Cairns, Lauren M.

2024

Overview

PTEN hamartoma tumour syndrome (PHTS) comprises a group of genetic disorders with varied clinical presentations, including macrocephaly, developmental delay, and increased cancer susceptibility. Recent reports have highlighted the occurrence of tonsil-related issues in PHTS. Clinical data focusing on tonsil-related pathology and tonsillectomy details (indications, histology and post-operative complications) were collected from 53 patients with PHTS. Tonsil issues affected 58 per cent of the cohort, with 43 per cent requiring tonsillectomy. Primary indications for tonsillectomy included obstructive sleep apnoea (43 per cent), recurrent tonsillitis (17 per cent) and other causes (17 per cent). Tonsil-related problems were observed both before (45 per cent) and after (55 per cent) PHTS. Tonsillectomy with adenoidectomy was the predominant surgical intervention performed (87 per cent), spanning a broad age range (1-27 years old). Our findings highlight the complex nature of PHTS and its association with tonsil-related pathology, demonstrating its relevance for ENT surgeons. Early recognition and intervention are pivotal for managing sleep apnoea and the associated health problems.

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Publisher

Cambridge University Press

Subject

Adenoidectomy

/ Adolescent

/ Adult

/ Age

/ Airway management

/ Apnea

/ Case reports