scholarly journals Testicular pain as a presentation of Cowden syndrome

2011 ◽  
Vol 93 (5) ◽  
pp. e51-e52 ◽  
Author(s):  
Hussain M Alnajjar ◽  
Arun Sahai ◽  
Andrew Keane ◽  
Stephen Gordon
Keyword(s):  
Cowden Syndrome ◽  
Limited Information ◽  
Nodular Goitre ◽  
Phosphatase And Tensin Homolog ◽  
Testicular Pain ◽  
Left Testicle ◽  
Tensin Homolog ◽  
History Of ◽  
Multiple Hamartoma Syndrome

This case report outlines a rare case in Cowden syndrome and PTEN (phosphatase and tensin homolog) gene mutation and how it may initially present to the urologist. Also known as multiple hamartoma syndrome, Cowden syndrome is a rare disorder associated with the development of several types of malignancy. A thorough search of the literature reveals limited information regarding its presentation to the urologist. We report the case of a 47-year-old gentleman with a two-week history of worsening pain and swelling in his left testicle. Testicular ultrasound revealed multiple hyperechoic areas bilaterally suggestive of multiple lipomas. He was also found to have macrocephaly, freckling of his glans and foreskin and an enlarged nodular goitre and the geneticist diagnosed Cowden syndrome. The disease is discussed and guidance is given on its management and follow up.

scholarly journals Cowden Syndrome: report of a case and brief review of literature

2013 ◽  
Vol 88 (6 suppl 1) ◽  
pp. 52-52 ◽  
Author(s):  
Ana Carolina Souza Porto ◽  
Elisabeth Roider ◽  
Thomas Ruzicka
Keyword(s):  
Cell Cycle Progression ◽  
Cowden Syndrome ◽  
Pten Gene ◽  
Benign Tumors ◽  
Cutaneous Lesions ◽  
Phosphatase And Tensin Homolog ◽  
Tensin Homolog ◽  
Increased Risk ◽  
History Of ◽  
Risk Of Cancer

We present the case of a female patient with facial cutaneous lesions, a cobblestone-like pattern of the oral mucosa, and verruciform lesions on the hand since her youth. She reported a history of breast cancer, endometrial cancer, melanoma and multiple benign tumors and cysts. PTEN gene analysis was performed and confirmed Cowden Syndrome, a rare genodermatosis with an autosomal dominant pattern of inheritance, characterized by multiple hamartomas. The phosphatase and tensin homolog (PTEN) gene negatively regulates cell proliferation and cell cycle progression. Loss of PTEN function contributes to an increased risk of cancer. We emphasize the importance of early detection and accurate management of Cowden Syndrome.

scholarly journals Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome

2019 ◽  
Vol 12 (2) ◽  
pp. bcr-2017-224079
Author(s):  
Daphna Prat ◽  
Iris Ben Bassat Mizrachi ◽  
Vicktoria Vishnevskia-Dai
Keyword(s):  
Young Children ◽  
Gene Mutation ◽  
Inflammatory Cells ◽  
Intermediate Uveitis ◽  
Phosphatase And Tensin Homolog ◽  
Tensin Homolog ◽  
Ophthalmic Manifestations ◽  
First Case ◽  
Pars Plana

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a congenital disorder characterised by macrocephaly, multiple hamartomas, lipomas, and pigmented macules of the glans penis. Intermediate uveitis is characterised by chronic inflammatory cells aggregates on the pars plana (snowbanks) and within the vitreous cavity (snowballs). We describe what we believe to be the first case of intermediate uveitis associated with BRRS. Early examination under anaesthesia should be considered in the management of young children diagnosed with this syndrome in order to provide appropriate ocular evaluation, treatment and follow-up. Further research is needed to establish a better understanding of the ophthalmic manifestations of this syndrome.

scholarly journals Androgen actions via androgen receptor promote PTEN inactivation induced uterine cancer

2015 ◽  
Vol 22 (5) ◽  
pp. 687-701 ◽  
Author(s):  
Jaesung (Peter) Choi ◽  
Reena Desai ◽  
Yu Zheng ◽  
Mu Yao ◽  
Qihan Dong ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Uterine Cancer ◽  
Serum Testosterone ◽  
Cowden Syndrome ◽  
Corpora Lutea ◽  
Phosphatase And Tensin Homolog ◽  
Tensin Homolog ◽  
Uterine Growth ◽  
Uterine Cancers ◽  
Reproductive Cancers

Haploinsufficient inactivating phosphatase and tensin homolog (Pten) mutations cause Cowden syndrome, an autosomal dominant risk genotype for hormone dependent reproductive cancers. As androgen actions mediated via the androgen receptor (AR) supports uterine growth and may modify uterine cancer risk, we hypothesized that a functional AR may increase PTEN inactivation induced uterine cancer. To test the hypothesis, we compared the PTEN knockout (PTENKO) induced uterine pathology in heterozygous PTENKO and combined heterozygous PTEN and complete AR knockout (PTENARKO) female mice. PTENKO induced uterine pathology was significantly reduced by AR inactivation with severe macroscopic uterine pathology present in 21% of PTENARKO vs 46% of PTENKO at a median age of 45 weeks. This could be due to reduced stroma ERα expression in PTENARKO compared to PTENKO uterus, while AR inactivation did not modify PTEN or P-AKT levels. Unexpectedly, while progesterone (P4) is assumed protective in uterine cancers, serum P4was significantly higher in PTENKO females compared to WT, ARKO, and PTENARKO females consistent with more corpora lutea in PTENKO ovaries. Serum testosterone and ovarian estradiol were similar between all females. Hence, our results demonstrated AR inactivation mediated protection against PTENKO induced uterine pathology and suggests a potential role for antiandrogens in uterine cancer prevention and treatment.

scholarly journals A.6 Vagus Nerve Stimulation in patients with therapy resistant generalized epilepsy

2021 ◽  
Vol 48 (s3) ◽  
pp. S15-S15
Author(s):  
AS Suller Marti ◽  
SM Mirsattari ◽  
KW MacDougall ◽  
D Steven ◽  
A Parrent ◽  
...  
Keyword(s):  
Vagus Nerve ◽  
Nerve Stimulation ◽  
Vagus Nerve Stimulation ◽  
Hospital Admissions ◽  
Focal Epilepsy ◽  
Limited Information ◽  
Best Response ◽  
History Of ◽  
Generalized Epilepsy

Background: For patients with generalized epilepsy who do not respond to anti-seizure medications, the therapeutic options are limited. Vagus nerve stimulation (VNS) is a treatment mainly approved for therapy resistant focal epilepsy. There is limited information on the use of VNS on generalized epilepsies, including Lennox Gastaut Syndrome(LGS) and genetic generalized epilepsy(GGE). Methods: We identified patients with a diagnosis of Lennox-Gastaut Syndrome or Genetic Generalized Epilepsy, who underwent VNS implantation, between1997 and July 2018. Results: A total of 46 patients were included in this study with a history of therapy resistant generalized epilepsy. The mean age at implantation was 24 years(IQR= 17.8-31 years) and 50%(n=23) were female. The most common etiologies were GGE in 37%(n=17) and LGS in 63%(n=29). Median follow-up since VNS implantation was 63 months(IQR:31-112.8months). 41.7%(n=12) of the LGS group became responders, and 64.7%(n=11) in the GGE group. The best response in seizure reduction was seen in generalized tonic-clonic seizures. There was a reduction of seizure-related hospital admissions from 89.7%(N=26) pre-implantation, to 41.4%(N=12) post-implantation (p<0.0001). The frequency of side effects due to the stimulation was similar in both groups(62.1% in LGS and 61.1% in GGE). Conclusions: VNS is an effective treatment in patients with therapy resistant generalized epilepsy, especially GGE.

Abstract WMP27: PAT Model Accurately Predicts Aneurysm Enlargement in 16 Growing Aneurysm Cases

Stroke ◽  
2020 ◽  
Vol 51 (Suppl_1) ◽  
Author(s):  
Aichi Chien ◽  
Michelle Hildebrandt ◽  
Geoffrey Colby ◽  
Victor Chang ◽  
Gary Duckwiler ◽  
...  
Keyword(s):  
Medical Records ◽  
Intracranial Aneurysms ◽  
Medical Center ◽  
Patient Characteristics ◽  
Percentage Error ◽  
Limited Information ◽  
Unruptured Intracranial Aneurysms ◽  
History Of ◽  
And Behavior

Objective: Imaging technology for unruptured intracranial aneurysms (UIA) has improved detection of such aneurysms. However, there is limited information on UIA change over time, and how to predict the rate of enlargement. The objective of this study was to quantify the accuracy of the Predicted Aneurysm Trajectory (PAT) model recently developed by Chien et al. (J Neurosurgery. 2019; Mar 1:1-11). Methods: Patients diagnosed with UIA were prospectively enrolled at the UCLA Medical Center, and followed through serial imaging. 16 UIA cases exhibiting growth across multiple follow-ups were included in this study. Prior images and medical records were collected. Characteristics relevant to the PAT model (mean ± stdev), including initial UIA size (7.26 ± 6.38), patient age (67.4 ± 9.48 yrs.), sex (4 male), history of smoking (n=5), hypothyroidism (n=4), and follow-up duration (36.5 ± 50.0 mos.) were used to predict UIA size at each follow-up. Predicted and actual UIA sizes at follow-up were compared using symmetric mean absolute percentage error (SMAPE) with percentage error ranging from 0-100%. Results: The 16 UIA cases were split by initial UIA size. For UIA smaller than 7 mm (10 cases, 23 follow-up), SMAPE = 11.13%. For UIA greater than 7 mm (6 cases, 15 follow-up), SMAPE = 8.07%. For all UIA cases (16 cases, 38 follow-up), SMAPE = 9.92%. Conclusions: The PAT model predicts the rate of enlargement for UIA, as opposed to whether or not UIA will grow. With this new sample of data, we found the predicted UIA size at follow-up to be quite accurate, deviating in the range of 10% from the actual, measured size. Patient characteristics such as the demographics and behavior included in the model influence the growth of UIA, which allows prediction of growth to optimize treatment and management in future cases.

scholarly journals The Skin in Cowden Syndrome

2021 ◽  
Vol 8 ◽  
Author(s):  
Agnes Lim ◽  
Joanne Ngeow
Keyword(s):  
Targeted Therapies ◽  
Autosomal Dominant ◽  
Malignant Tumors ◽  
Skin Lesions ◽  
Cowden Syndrome ◽  
Differential Diagnoses ◽  
Phosphatase And Tensin Homolog ◽  
Autosomal Dominant Condition ◽  
Tensin Homolog ◽  
Dominant Condition

Cowden syndrome (CS) is an autosomal dominant condition caused by mutations in the phosphatase and tensin homolog (PTEN) gene, and is characterized by multiple hamartomas and a predisposition to malignant tumors. Characteristic skin lesions include trichilemmomas, acral keratosis, mucocutaneous neuromas, oral papillomas, and penile macules, and are often the first clues to the underlying diagnosis. Here, we discuss the mucocutaneous manifestations of CS, differential diagnoses of genetic causes of each cutaneous finding, genetic analyses for patients with skin manifestations, management of patients with CS, and potential new targeted therapies for CS.

Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome

2013 ◽  
Vol 12 (1) ◽  
pp. 87-92 ◽  
Author(s):  
Karam Moon ◽  
Andrew F. Ducruet ◽  
R. Webster Crowley ◽  
Kathleen Klas ◽  
Ruth Bristol ◽  
...  
Keyword(s):  
High Risk ◽  
Arteriovenous Fistula ◽  
Dural Arteriovenous Fistula ◽  
Signs And Symptoms ◽  
Pseudotumor Cerebri ◽  
Symptomatic Improvement ◽  
Vascular Imaging ◽  
Phosphatase And Tensin Homolog ◽  
Tensin Homolog

In this paper the authors report the case of a complex dural arteriovenous fistula (dAVF) with high-risk features in a 14-year-old girl with Bannayan-Riley-Ruvalcaba syndrome (BRRS), a phosphatase and tensin homolog–associated syndrome, presenting with signs and symptoms of increased intracranial pressure (ICP) that had previously been attributed to pseudotumor cerebri. This fistula was obliterated following 2 stages of embolization, and the patient experienced immediate symptomatic improvement. At the 2-month follow-up evaluation, the fistula remained angiographically occluded, and her symptoms continue to improve. This is the third reported case of an intracranial dAVF in a patient with BRRS. Because high-risk dAVFs can result in devastating morbidity, early detection with vascular imaging is crucial for patients with BRRS presenting with signs of increased ICP. Goals of treatment should include complete fistula obliteration whenever possible.

Lhermitte-Duclos disease and Cowden's syndrome in an adolescent patient

1994 ◽  
Vol 81 (1) ◽  
pp. 133-136 ◽  
Author(s):  
Gregg B. Wells ◽  
Todd M. Lasner ◽  
David M. Yousem ◽  
Eric L. Zager
Keyword(s):  
Cystic Hygroma ◽  
Content Type ◽  
Adenomatous Goiter ◽  
Cowden’S Syndrome ◽  
Long Term Follow Up ◽  
History Of ◽  
The Right ◽  
Multiple Hamartoma Syndrome

✓ Recent reports of seven cases of Lhermitte-Duclos disease occurring in adult patients with Cowden's syndrome (multiple hamartoma syndrome) strongly suggest that Lhermitte-Duclos disease is one of the types of neoplasia that characterize this syndrome. A case of Lhermitte-Duclos disease is reported in a 16-year-old girl with craniomegaly, choroidal hamartoma, and conjunctival papilloma of the right eye, and a history of bilateral multinodular adenomatous goiter and cystic hygroma. These findings strongly suggest a diagnosis of Cowden's syndrome. Although the syndrome traditionally has been defined by mucocutaneous criteria, it typically also involves hamartomas and neoplasia of internal organs, most commonly in the thyroid, breast, and female genitourinary tract. Because the mucocutaneous features may develop several decades after birth, the present case both supports the previously reported association between Lhermitte-Duclos disease and Cowden's syndrome and highlights the need for long-term follow-up monitoring of a pediatric patient with Lhermitte-Duclos disease because of the risk of malignancies associated with Cowden's syndrome.

PTEN-Related Overgrowth Syndromes

2019 ◽  
pp. 163-186
Author(s):  
Lamis Yehia ◽  
Joanne Ngeow ◽  
Charis Eng
Keyword(s):  
Autosomal Dominant ◽  
Vascular Malformations ◽  
Treatment Strategies ◽  
Suppressor Gene ◽  
Cowden Syndrome ◽  
Loss Of Function ◽  
Autosomal Dominant Disorder ◽  
Phosphatase And Tensin Homolog ◽  
Tensin Homolog ◽  
Cell Growth And Proliferation

Individuals carrying germline mutations in the tumor suppressor gene phosphatase and tensin homolog (PTEN) may present with diverse clinical phenotypes, grouped under the term of PTEN hamartoma tumor syndrome (PHTS). This chapter will focus on two PHTS conditions: Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome. The first condition is an autosomal dominant disorder characterized by macrocephaly, intestinal hamartomatous polyposis, vascular malformations, lipomas, hemangiomas, and genital freckling. Other features include developmental delay, hypotonia, and scoliosis. Cowden syndrome is also an autosomal dominant disorder, mainly characterized by multiple hamartomas and high risk of breast, thyroid, and other cancers. PTEN encodes the main inhibitor of the PI3K-AKT pathway, regulating cell growth and proliferation, and protein synthesis. Therefore, germline loss-of-function mutations in this gene lead to excessive growth, particularly affecting connective tissues. Detection of PTEN mutations is critical for clinical management and treatment strategies.

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