 Hamartoma Syndrome, Multiple
"Hamartoma Syndrome, Multiple" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D006223
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| MeSH Number(s) |
C04.445.435 C04.651.435 C04.700.435 C16.320.700.435
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| Concept/Terms |
Hamartoma Syndrome, Multiple- Hamartoma Syndrome, Multiple
- Hamartoma Syndromes, Multiple
- Multiple Hamartoma Syndromes
- Multiple Hamartoma Syndrome
- Cowden's Disease
- Cowdens Disease
- Cowden's Syndrome
- Cowdens Syndrome
- Cowden Disease
- Cowden Syndrome
Lhermitte-Duclos Disease- Lhermitte-Duclos Disease
- Lhermitte Duclos Disease
- Dysplastic Gangliocytoma of Cerebellum
- Cerebellum Dysplastic Gangliocytoma
- Cerebellum Dysplastic Gangliocytomas
- Dysplastic Gangliocytoma of the Cerebellum
Bannayan-Riley-Ruvalcaba Syndrome- Bannayan-Riley-Ruvalcaba Syndrome
- Bannayan Riley Ruvalcaba Syndrome
- Macrocephaly, Multiple Lipomas, and Hemangiomata
- Macrocephaly, Pseudopapilledema, and Multiple Hemangiomas
- Ruvalcaba-Myhre Syndrome
- Myhre-Riley-Smith Syndrome
- Myhre Riley Smith Syndrome
- Riley-Smith Syndrome
- Riley Smith Syndrome
- Ruvalcaba-Myhre-Smith Syndrome
- Ruvalcaba Myhre Smith Syndrome
- Bannayan-Ruvalcaba-Riley Syndrome
- Bannayan-Zonana Syndrome
- Bannayan Zonana Syndrome
- Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata
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Below are MeSH descriptors whose meaning is more general than "Hamartoma Syndrome, Multiple".
- Diseases [C]
- Neoplasms [C04]
- Hamartoma [C04.445]
- Hamartoma Syndrome, Multiple [C04.445.435]
- Neoplasms, Multiple Primary [C04.651]
- Hamartoma Syndrome, Multiple [C04.651.435]
- Neoplastic Syndromes, Hereditary [C04.700]
- Hamartoma Syndrome, Multiple [C04.700.435]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Neoplastic Syndromes, Hereditary [C16.320.700]
- Hamartoma Syndrome, Multiple [C16.320.700.435]
Below are MeSH descriptors whose meaning is more specific than "Hamartoma Syndrome, Multiple".
This graph shows the total number of publications written about "Hamartoma Syndrome, Multiple" by people in this website by year, and whether "Hamartoma Syndrome, Multiple" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 1 | 0 | 1 | | 1998 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2012 | 0 | 1 | 1 | | 2017 | 3 | 0 | 3 | | 2022 | 4 | 0 | 4 | | 2024 | 1 | 0 | 1 | | 2025 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Hamartoma Syndrome, Multiple" by people in Profiles.
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Schultz KAP, MacFarland SP, Perrino MR, Mitchell SG, Kamihara J, Nelson AT, Mallinger PHR, Brzezinski JJ, Maxwell KN, Woodward ER, Gallinger B, Kim SY, Greer MC, Schneider KW, Scollon SR, Das A, Wasserman JD, Eng C, Malkin D, Foulkes WD, Michaeli O, Bauer AJ, Stewart DR. Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex. Clin Cancer Res. 2025 Jan 17; 31(2):234-244.
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MacFarland SP, Duvall M, Kemajou RT, Baldino SE, Zelley K, Black C, Thomas A, Thomas NH, Ruffner M, Li Y, Miller JS, Brodeur GM, Shabason E. Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome. Am J Med Genet A. 2024 08; 194(8):e63608.
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Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ. Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol. 2022 06 01; 117(6):846-864.
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Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ. Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc. 2022 06; 95(6):1025-1047.
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Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ. Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. 2022 06; 162(7):2063-2085.
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Leibowitz MS, Zelley K, Adams D, Brodeur GM, Fox E, Li MM, Mattei P, Pogoriler J, MacFarland SP. Neuroblastoma and cutaneous angiosarcoma in a child with PTEN hamartoma tumor syndrome. Pediatr Blood Cancer. 2022 10; 69(10):e29656.
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Balci TB, Davila J, Lewis D, Boafo A, Sell E, Richer J, Nikkel SM, Armour CM, Tomiak E, Lines MA, Sawyer SL. Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome. Am J Med Genet B Neuropsychiatr Genet. 2018 Jan; 177(1):101-109.
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Achatz MI, Porter CC, Brugi?res L, Druker H, Frebourg T, Foulkes WD, Kratz CP, Kuiper RP, Hansford JR, Hernandez HS, Nathanson KL, Kohlmann WK, Doros L, Onel K, Schneider KW, Scollon SR, Tabori U, Tomlinson GE, Evans DGR, Plon SE. Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood. Clin Cancer Res. 2017 07 01; 23(13):e107-e114.
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Ni Y, Seballos S, Fletcher B, Romigh T, Yehia L, Mester J, Senter L, Niazi F, Saji M, Ringel MD, LaFramboise T, Eng C. Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma. Hum Mol Genet. 2017 01 15; 26(2):243-257.
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Hoogkamer W, Van Calenbergh F, Swinnen SP, Duysens J. Cutaneous reflex modulation and self-induced reflex attenuation in cerebellar patients. J Neurophysiol. 2015 Feb 01; 113(3):915-24.
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