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DeCS
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Descriptor English:
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Hamartoma Syndrome, Multiple
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Descriptor Spanish:
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Síndrome de Hamartoma Múltiple
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Descriptor Portuguese:
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Síndrome do Hamartoma Múltiplo
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Synonyms English:
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Bannayan-Riley-Ruvalcaba Syndrome
Cowden Disease
Cowden's Disease
Lhermitte-Duclos Disease
Multiple Hamartoma Syndrome
PTEN Hamartoma Tumor Syndrome
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Tree Number:
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C04.445.435
C04.651.435
C04.700.435
C16.320.700.435
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Definition English:
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A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. |
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History Note English:
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91(87); was see under NEOPLASMS, MULTIPLE PRIMARY 1987-90
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Allowable Qualifiers English:
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Record Number:
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19179
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Unique Identifier:
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D006223
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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