Hamartoma Syndrome, Multiple

Multipelt hamartomsyndrom

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 Cowden Disease Cowden Syndrome Cowden's Disease Cowdens Disease Cowden's Syndrome Cowdens Syndrome Multiple Hamartoma Syndrome PTEN Hamartoma Tumor Syndrome 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-Zonana Syndrome Bannayan Zonana Syndrome Macrocephaly, Multiple Lipomas, and Hemangiomata Macrocephaly, Pseudopapilledema, and Multiple Hemangiomas Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata 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 Ruvalcaba-Myhre Syndrome