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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature.

OBJECT: Cowden disease is a rare autosomal-dominant phacomatosis and cancer syndrome that is associated with Lhermitte-Duclos disease (LDD), also called dysplastic cerebellar gangliocytoma. METHODS: In this review the authors summarize the additions to the literature during the past 5 years, with emphasis on new case reports and advances in imaging and molecular biology. Adult-onset LDD is now considered pathognomonic for Cowden disease. Approximately 220 cases of LDD have been reported. Magnetic resonance imaging in patients with LDD is often diagnostic, and imaging studies have facilitated accurate diagnosis and contributed to the improved outcome in affected patients. Cowden disease and other rare, related disorders, such as Bannayan-Riley-Ruvalcaba, Proteus, and Proteus- like syndromes, are often caused by mutations of the PTEN gene. CONCLUSIONS: Because of the high incidence of systemic cancer in patients with Cowden disease, it is important for neurosurgeons to recognize the association between this disease and LDD and to refer affected patients for appropriate cancer screenings and interventions.[1]

References

  1. Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature. Robinson, S., Cohen, A.R. Neurosurgical focus [electronic resource]. (2006) [Pubmed]
 
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