Cowden syndrome

AbstractLhermitte–Duclos disease, also known as dysplastic cerebellar gangliocytoma, is a rare hamartomatous tumor localized in cerebellum. An association with Cowden syndrome is observed in 50% of cases who present with symptoms of increased intracranial pressure and cerebellar ataxia. These patients have specific magnetic resonance imaging and histopathological findings. Surgical resection is the treatment of choice. Here, we report a case of a young female with traumatic frontal hemorrhage associated with Lhermitte–Duclos disease.

Download Full-text

PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy

Cancers ◽

10.3390/cancers13133120 ◽

2021 ◽

Vol 13 (13) ◽

pp. 3120

Author(s):

David D. Dragoo ◽

Ahmed Taher ◽

Vincenzo K. Wong ◽

Ahmed Elsaiey ◽

Nikita Consul ◽

...

Keyword(s):

Autosomal Dominant ◽

Malignant Tumors ◽

Cowden Syndrome ◽

Benign Tumors ◽

Imaging Findings ◽

Pten Hamartoma Tumor Syndrome ◽

Associated Lesions ◽

Tumor Recognition ◽

Integral Role ◽

Early Tumor

PTEN hamartoma tumor syndrome/Cowden syndrome (CS) is a rare autosomal dominant syndrome containing a germline PTEN mutation that leads to the development of multisystem hamartomas and oncogenesis. Benign tumors such as Lhermitte–Duclos disease and malignant tumors involving the breast, thyroid, kidneys, and uterus are seen in CS. Radiologists have an integral role in the comanagement of CS patients. We present the associated imaging findings and imaging screening recommendations. Knowledge of the types of cancers commonly seen in CS and their imaging findings can aid in early tumor recognition during cancer screening to help ensure near-normal life spans in CS patients.

Download Full-text

Mystery Case: Cowden syndrome presenting with paraneoplastic encephalitis

Neurology ◽

10.1212/wnl.0000000000008398 ◽

2019 ◽

Vol 93 (18) ◽

pp. 814-816

Author(s):

Meng-sha Yao ◽

Sheng Chen ◽

Jun Liu

Keyword(s):

Cowden Syndrome ◽

Paraneoplastic Encephalitis

Download Full-text

Early-onset chronic lymphocytic leukaemia in a young man with Cowden syndrome

Annals of Hematology ◽

10.1007/s00277-016-2677-z ◽

2016 ◽

Vol 95 (7) ◽

pp. 1205-1206

Author(s):

C. Molloy ◽

R. Cahill ◽

D. Gallagher ◽

P. Murphy ◽

J. Quinn

Keyword(s):

Chronic Lymphocytic Leukaemia ◽

Early Onset ◽

Lymphocytic Leukaemia ◽

Cowden Syndrome

Download Full-text

PTEN mutation in a family with Cowden syndrome and autism

American Journal of Medical Genetics ◽

10.1002/ajmg.1477 ◽

2001 ◽

Vol 105 (6) ◽

pp. 521-524 ◽

Cited By ~ 137

Author(s):

Aleide Goffin ◽

Lies H. Hoefsloot ◽

Ermanno Bosgoed ◽

Ann Swillen ◽

Jean-Pierre Fryns

Keyword(s):

Cowden Syndrome ◽

Pten Mutation

Download Full-text

Streptococcal toxic shock syndrome following total thyroidectomy

Annals of The Royal College of Surgeons of England ◽

10.1308/003588413x13629960048118 ◽

2013 ◽

Vol 95 (7) ◽

pp. 457-460 ◽

Cited By ~ 4

Author(s):

J AZ Hung ◽

P Rajeev

Keyword(s):

Total Thyroidectomy ◽

Toxic Shock Syndrome ◽

Cowden Syndrome ◽

Streptococcal Toxic Shock Syndrome ◽

Rare Occurrence ◽

Toxic Shock ◽

Group A ◽

High Index Of Suspicion ◽

Improve Patient ◽

Management Issues

Group A streptococcal toxic shock syndrome following clean surgery is a rare occurrence. Its incidence following thyroid surgery has not been described in the literature. We report on the presentation and management of severe streptococcal toxic shock syndrome following a total thyroidectomy for a multinodular goitre in a patient with Cowden syndrome. This report presents an overview of streptococcal toxic shock syndrome with a focus on the management issues to consider so as to improve patient outcome. All surgeons must maintain a high index of suspicion for this rare but dangerous entity.

Download Full-text