COWDEN SYNDROME DIAGNOSIS FROM ORAL MANIFESTATIONS: A CASE REPORT
| Autor: | Renata Peres Cirilo, Daniel Vasques Wanderley, Josiane Costa Rodrigues De Sá, Ana Flávia Schueler De Assumpção Leite, Adriana Terezinha Neves Novellino Alves, Simone De Queiroz Chaves Lourenço, Luisa Aguirre Buexm |
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| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
medicine.diagnostic_test business.industry Autosomal dominant trait Nodule (medicine) Physical examination Cowden syndrome medicine.disease Dermatology Asymptomatic Pathology and Forensic Medicine stomatognathic diseases medicine.anatomical_structure Tongue medicine Radiology Nuclear Medicine and imaging Dentistry (miscellaneous) Surgery Medical history Oral Surgery medicine.symptom Labial Mucosa business |
| Zdroj: | Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 130:e230 |
| ISSN: | 2212-4403 |
| DOI: | 10.1016/j.oooo.2020.04.569 |
| Popis: | Cowden syndrome (CS) is a rare condition, inherited with autosomal dominant trait, resulting from mutation in the Phosphatase and Tensin homolog gene on chromosome 10 and characterized mainly by multiple hamartomas and increased risk of malignant development. The report describes a case in a 43-year-old white male patient, complaining of a nodule on the tongue. In the anamnesis, a previous history of malignant neoplasms in the thyroid and testicles treated 20 years ago was been reported. Physical examination showed multiple small papules on the facial skin around eyes and mouth, multiple asymptomatic hamartomas in the labial mucosa, buccal mucosa, dorsal tongue and gingivae, and small superficial keratotic plaques in the dorsal surface of the hands. Three biopsies were performed in different oral sites with histopathological diagnosis of fibrous hyperplasia. Diagnosis of CS was confirmed by medical history, clinical, and histopathological characteristics. The patient is followed up in medical and dental care. |
| Databáze: | OpenAIRE |
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