Svensk definition
En ärftlig sjukdom som kännetecknas av mångtaliga ektodermala, mesodermala och endodermala, nevus- och tumörliknande anomalier. Blemmor i ansiktet och munnens slemhinnor är typiska sjukdomstecken. Förändringar i huden, sköldkörteln, bröstet, mag-tarmsystemet och nervsystemet förekommer också.
Engelsk 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.
Svenska synonymer
Hamartomsyndrom, multipelt — Cowdens syndrom — Dysplastiskt cerebellärt gangliocytom — Lhermitte-Duclos sjukdom — Bannayan–Riley–Ruvalcaba syndrom — Ruvalcaba-Myhre-Smith syndrom
Engelska synonymer
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 — Dysplastic Gangliocytoma of Cerebellum — Cerebellum Dysplastic Gangliocytoma — Cerebellum Dysplastic Gangliocytomas — Dysplastic Gangliocytoma of the Cerebellum — PTEN Hamartoma Tumor 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