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Hamartoma Syndrome, Multiple

More information in Books or onNLM PubMed
Definition: 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.     
Examples Proteus Syndrome 		Other names PTEN Hamartoma Tumor Syndrome; Multiple Hamartoma Syndrome; Lhermitte-Duclos Disease; Cowden's Disease; Cowden Disease; Bannayan-Riley-Ruvalcaba Syndrome; Syndromes, Multiple Hamartoma; Syndrome, Ruvalcaba-Myhre-Smith; Syndrome, Ruvalcaba; Syndrome, Riley-Smith; Syndrome, Myhre-Riley-Smith; Syndrome, Multiple Hamartoma; Syndrome, Cowden's; Syndrome, Cowden; Syndrome, Bannayan-Zonana; Syndrome, Bannayan-Riley-Ruvalcaba; Ruvalcaba Myhre Smith Syndrome; Riley Smith Syndrome; Myhre Riley Smith Syndrome; Multiple Hamartoma Syndromes
 
SubstanceCAS Registry & nameCategoriesSource
Basal cell carcinoma, multiple  0   *Carcinoma, Basal Cell *Hamartoma Syndrome, Multiple.
Graham Boyle Troxell syndrome  0   *Hamartoma Syndrome, Multiple *Kidney Neoplasms *Lung Neoplasms. Am J Med Genet. 1987;27(1):45-59
Sacral hemangiomas multiple congenital abnormalities  0   *Hamartoma Syndrome, Multiple.
Heart defect, tongue hamartoma and polysyndactyly  0   *Hamartoma Syndrome, Multiple.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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