Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome: A Case Report
| Autor: | Charles M. Cobb, Keerthana M. Satheesh, Amon E. Holt, Brett L. Ferguson, Tanya M. Gibson |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty biology business.industry Thyroid General Engineering Macrocephaly General Medicine Cowden syndrome 030105 genetics & heredity Hyperplasia medicine.disease Proteus syndrome 03 medical and health sciences 0302 clinical medicine medicine.anatomical_structure 030220 oncology & carcinogenesis medicine biology.protein Hamartoma PTEN Tensin medicine.symptom business |
| Zdroj: | Clinical Advances in Periodontics. 6:21-26 |
| ISSN: | 2163-0097 |
| DOI: | 10.1902/cap.2015.140095 |
| Popis: | Introduction: Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) may manifest as one of four distinctive disorders: 1) Cowden syndrome; 2) Bannayan-Riley-Ruvalcaba syndrome; 3) Proteus syndrome; or 4) Proteus-like syndrome. Clinical features of PHTS commonly include multiple benign hamartomas of the skin and mucous membranes as well as macrocephaly. Despite the benign nature of the characteristic lesions, patients diagnosed with PHTS are at increased risk of certain cancers, most notably carcinomas of the breast, thyroid, and endometrium.Case Presentation: A 28-year-old African-American female presented with generalized gingival overgrowth that involved the palate, gingival margins, and retromolar areas. The dorsal tongue also exhibited a generalized tissue hyperplasia. Based on clinical presentation, biopsies were performed for histology and genetic testing. Although histology revealed non-specific fibroepithelial hyperplasia, genetic testing revealed a novel heterozygous mutation of t... |
| Databáze: | OpenAIRE |
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