| Autor: |
K A, Arun, R, Sreejith, B, Hitha, P, Geetha, P K, Sasidharan |
| Rok vydání: |
2015 |
| Předmět: |
|
| Zdroj: |
The National medical journal of India. 28(2) |
| ISSN: |
0970-258X |
| Popis: |
Cowden syndrome or multiple hamartoma syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomatous lesions of ectodermal, mesodermal and endodermal origin. A 45-year-old man presented to us with a history of dural arteriovenous fistula and intracerebral bleed in the past with gradually progressive difficulty in walking. Magnetic resonance imaging (MRI) of the brain showed a heterogeneous lesion in the cerebellum which was diagnosed as adult Lhermitte-Duclos disease which is considered a component of Cowden syndrome. On examination we found florid skin and mucosal manifestations of Cowden syndrome. A family history of thyroid malignancy was also present. Using the Cleveland Clinic web calculator, the patient had an 82% chance of having a phosphatase and tensin homologue (PTEN) mutation. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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