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.

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.

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

Cancers ◽  
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.

Macrostomia, Preauricular Tags, and External Ophthalmoplegia: A New Autosomal Dominant Syndrome within the Oculoauriculovertebral Spectrum?

2006 ◽  
Vol 43 (4) ◽  
pp. 429-434 ◽  
Author(s):  
Antonio Richieri-Costa ◽  
Lucilene Arilho Ribeiro
Keyword(s):  
Embryonic Development ◽  
Autosomal Dominant ◽  
Wide Spectrum ◽  
Branchial Arch ◽  
Early Embryonic Development ◽  
Bilateral Ptosis ◽  
First Report ◽  
Autosomal Dominant Condition ◽  
Oculoauriculovertebral Spectrum ◽  
Dominant Condition

Objective First and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that encompass diverse, superimposed, and heterogeneous phenotypes within the so-called oculoauriculovertebral spectrum. Nine members of a Brazilian family presenting typical branchial arch involvement in association with external opthalmoplegia are reported. Conclusion Macrostomia or abnormal mouth contour, preauricular tags, and uni- or bilateral ptosis were present in association in several patients. To our knowledge, this is the first report on this type of autosomal dominant condition. Clinical and genetic aspects are discussed.

Thanatophoric dysplasia: An autosomal dominant condition?

1988 ◽  
Vol 31 (4) ◽  
pp. 815-820 ◽  
Author(s):  
M. L. Martínez-Frías ◽  
M. A. Ramos-Arroyo ◽  
J. Salvador ◽  
John M. Opitz ◽  
James F. Reynolds
Keyword(s):  
Autosomal Dominant ◽  
Thanatophoric Dysplasia ◽  
Autosomal Dominant Condition ◽  
Dominant Condition

Cowden’s disease: a rare cause of oral papillomatosis

2002 ◽  
Vol 116 (3) ◽  
pp. 221-223 ◽  
Author(s):  
Marissa Botma ◽  
Derrick I. Russell ◽  
Robin A. Kell
Keyword(s):  
Gastrointestinal Tract ◽  
Female Patient ◽  
Autosomal Dominant ◽  
Past History ◽  
Breast Malignancy ◽  
Autosomal Dominant Condition ◽  
Increased Risk ◽  
Cowden’S Disease ◽  
History Of ◽  
Dominant Condition

Cowden’s disease is a rare autosomal dominant condition with characteristic mucocutaneous papillomatous lesions. These lesions are mucocutaneous markers for increased risk of malignancies in the thyroid, breast and the gastrointestinal tract. We discuss the case of a 50-year-old female patient who presented with oral and cutaneous papillomoas and a past history of breast malignancy. Important management aspects of these patients are considered.

scholarly journals A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

2011 ◽  
Vol 19 (7) ◽  
pp. 820-826 ◽  
Author(s):  
Judith B A van de Meerakker ◽  
Klaartje van Engelen ◽  
Inge B Mathijssen ◽  
Ronald H Lekanne dit Deprez ◽  
Jan Lam ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Autosomal Dominant Condition ◽  
Chromosome 9Q ◽  
Dominant Condition ◽  
Atrial Rhythm

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.

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