| Autor: |
Anthony C. Torres, DO, Parth Upadhyaya, MS-IV, Rajneesh Agrawal, MD |
| Jazyk: |
angličtina |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
Interdisciplinary Neurosurgery, Vol 10, Iss , Pp 155-158 (2017) |
| Druh dokumentu: |
article |
| ISSN: |
2214-7519 |
| DOI: |
10.1016/j.inat.2017.09.007 |
| Popis: |
Cowden disease is a rare autosomal dominant disorder first described by Rachel Cowden in 1963 as one of the phosphatase and tensin homolog (PTEN) gene hamartoma tumor syndromes. Commonly affecting multiple systems, patients typically have an increased risk of breast and thyroid cancers as well as macrocephaly and benign hamartomatous growths. Due to the benign nature of many of the symptoms, true prevalence is likely higher than reported rates. Malformations associated with PTEN gene lead to dysregulation of cell proliferation yielding increased risk of neoplasm and frequently benign growths. Associated dysregulation of angiogenesis may result in arteriovenous malformations (AVMs). Intracranial AVMs may be asymptomatic. These AVMs present a risk of rupture and subsequent morbidity and mortality. Those with Cowden disease must be monitored for development of intracranial AVMs. Patients should be made aware that treatment for intracranial AVMs may be invasive and include serial embolization. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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