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Pediatric Challenges With Cowden Syndrome and Graves' Disease: A Case Report
Saraladevi Manimaran1, Ramya Ramanathan1, Sundari Subramanian1
1Department of Pediatrics, Sree Balaji Medical College and Hospital, Chennai, IND.
Insights
Cowden syndrome, a PTEN gene disorder, increases cancer risk, particularly thyroid cancer. Managing Cowden syndrome with co-occurring Graves' disease in pediatric patients requires a multidisciplinary approach for optimal care.
Area of Science:
- Genetics
- Endocrinology
- Oncology
Background:
- Cowden syndrome is a rare genetic disorder caused by PTEN gene mutations.
- It presents with mucocutaneous lesions and a high risk of malignancies, especially thyroid cancer.
- Co-occurrence with thyroid disorders like Graves' disease complicates management.
Abstract:
Cowden syndrome is a rare genetic anomaly mostly attributed to mutations in the Phosphatase and Tensin (PTEN) Homolog gene. This illness manifests with a diverse array of symptoms that impact several physiological systems and an increased susceptibility to various forms of malignancy. The patient typically exhibits mucocutaneous lesions and a heightened vulnerability to the formation of neoplasms, specifically thyroid carcinomas. The inclusion of thyroid disorders, such as Graves' disease, introduces complications to the management procedure, necessitating a complete approach that includes many healthcare practitioners to guarantee optimal care. Despite some advancements in the field, there remains a dearth of evidence-based recommendations for pediatric patients, encompassing individuals with Cowden syndrome and other thyroid disorders. The current investigation focuses on a 13-year-old female patient who presents with comorbid Cowden syndrome and Graves' disease. We emphasize the challenges associated with the diagnosis and treatment of these illnesses. A collaborative and multidisciplinary team approach was used to administer therapeutic approaches, such as total thyroidectomy, emphasizing the essential requirement for interdisciplinary cooperation among healthcare providers. Continual research endeavors play a pivotal role in elucidating the optimal management protocols and augmenting outcomes for this particular cohort of individuals.
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