cowden’s syndrome
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2021 ◽  
Vol 37 (2) ◽  
pp. 57-60
Author(s):  
Jung Hwan Um ◽  
Soon Heum Kim ◽  
Dong In Jo

Tumor of follicular infundibulum (TFI) is a rare benign cutaneous appendage tumor that does not have characteristic clinical features. It is mainly present in the head, neck, and trunk as a solitary lesion. In particular, TFI typically manifests as a plate-like proliferation with multiple thin epidermal connections comprise of monomorphic cells. TFI do not represent cutaneous characteristics, but have clinical significance because TFI is associated with basal cell carcinoma and Cowden's syndrome. We report a case of TFI in parietal scalp with a review of literatures.


2020 ◽  
Vol 158 (6) ◽  
pp. S-1023
Author(s):  
Anshika Khare ◽  
Carol A. Burke ◽  
Brandie Heald ◽  
Margaret O'Malley ◽  
Lisa A. LaGuardia ◽  
...  

2020 ◽  
Vol 158 (6) ◽  
pp. S-1022
Author(s):  
Anshika Khare ◽  
Carol A. Burke ◽  
Brandie Heald ◽  
Margaret O'Malley ◽  
Lisa A. LaGuardia ◽  
...  

Author(s):  
M. Marshall ◽  
D. Otero ◽  
S. Niklander ◽  
R. Martínez-Flores

Oral Oncology ◽  
2019 ◽  
Vol 99 ◽  
pp. 104346
Author(s):  
Zhongfeng Liu ◽  
Qi Wang ◽  
Jun Li

2019 ◽  
Vol 114 (1) ◽  
pp. S1584-S1585
Author(s):  
Anshika Khare ◽  
Carol A. Burke ◽  
Brandie Leach ◽  
Margaret O'Malley ◽  
Lisa LaGuardia ◽  
...  
Keyword(s):  

Author(s):  
Mrs. Maureen Marshall ◽  
Ms. Doris Otero ◽  
Mr. Sven Niklander ◽  
Mr. Rene Martinez

Author(s):  
Hòa Trần

Familial non-medullary thyroid cancer (FNMTC) comprises about 5-15% of non-medullary thyroid cancer (NMTC) is a heterogeneous of diseases including both non-syndromic and syndrom forms , Non-syndromic FNMTC tends to manifest paillary thyroid carcinoma,usually multifocal and bilateral.Several high-penetrance genes for FNMTC have been indentified but they are often confined to a few or single families and other susceptibility loci appear to play a small part ,conferring only small increments in risk . Familial susceptibility is like to be due to a combination of genetic and environmental influences . The current focus of research in FNMTC is to charactetise the susceptibility genes and their role in carcinogenesis .FNMTC can also occur as a part of multitumor genetic syndromes such as familial adenomatous polyposis ,Cowden’s syndrome, Werner’s sydrome and Carney complex . There tend to present at an early age and are multicentric and bilateral with distinct pathology . The clinical evaluaion of these patients is similar to that for most patients with a thyroid nodule. Key words: Familial non-medullary thyroid cancer (FNMTC)


2018 ◽  
Vol 80 (02) ◽  
pp. 134-137
Author(s):  
Anwar Haq ◽  
Ibrahim Alzahrani ◽  
Essam Shail ◽  
Abdulaziz Almubarak

AbstractLhermitte-Duclos disease is a rare condition with less than 250 cases reported in the literature. It was considered a neoplastic or hamartomatous growth in the cerebellum. It commonly presents with symptoms of high intracranial pressure or obstructive hydrocephalus. Surgical resection is often curative. The lesion is associated with PTEN gene mutation, and it is considered to be one of the diagnostic criteria of Cowden's syndrome. Vascular tumors are reported in this syndrome, including glioblastomas and meningiomas. Furthermore, central nervous system vascular lesions were also reported in Lhermitte-Duclos disease, such as deep venous anomalies and brain arteriovenous fistulas. A report of an asymptomatic spinal cervical AVF in a patient with Lhermitte-Duclos disease was published in 2006. We present the second case of Lhermitte-Duclos disease associated with an asymptomatic spinal cervical AVF in a 17-year-old young woman with literature review of central nervous system vascular lesions in Lhermitte-Duclos disease.


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