Abstract is: Lhermitte–Duclos disease (LDD) (English: /ˌlɛərˈmiːtˌduːˈkloʊ/), also called dysplastic gangliocytoma of the cerebellum, is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. It is often associated with Cowden syndrome. It was described by Jacques Jean Lhermitte and P. Duclos in 1920.
Abstract is: Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, and other cancers. It is often underdiagnosed due to variability in disease presentation, but 99% of patients report mucocutaneous symptoms by age 20–29. Despite some considering it a primarily dermatologic condition, Cowden's syndrome is a multi-system disorder that also includes neurodevelopmental disorders such as macrocephaly. The incidence of Cowden's disease is about 1 in 200,000, making it quite rare. Furthermore, early and continuous screening is essential in the management of this disorder to prevent malignancies. It is associated with mutations in PTEN on 10q23.3, a tumor suppressor gene otherwise known as phosphatase and tensin homolog, that results in dysregulation of the mTOR pathway leading to errors in cell proliferation, cell cycling, and apoptosis. The most common malignancies associated with the syndrome are adenocarcinoma of the breast (20%), followed by adenocarcinoma of the thyroid (7%), squamous cell carcinomas of the skin (4%), and the remaining from the colon, uterus, or others (1%).
Abstract is: Multiple hamartoma syndrome is a syndrome characterized by more than one hamartoma. It is sometimes equated with Cowden syndrome. However, MeSH also includes Bannayan–Zonana syndrome (that is, Bannayan–Riley–Ruvalcaba syndrome) and Lhermitte–Duclos disease under this description. Some articles include Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, and at least some forms of Proteus syndrome and Proteus-like syndrome under the umbrella term PTEN hamartoma tumor syndromes (PHTS).
class of disease | Q112193867 |
disease | Q12136 |
syndrome | Q179630 |
multiple hamartoma syndrome | Q3508737 |
autosomal dominant disease | Q18553439 |
P699 | Disease Ontology ID | DOID:6457 |
P557 | DiseasesDB | 31336 |
P673 | eMedicine ID | 1093383 |
P2888 | exact match | http://identifiers.org/doid/DOID:6457 |
http://purl.obolibrary.org/obo/DOID_6457 | ||
http://www.orpha.net/ORDO/Orphanet_201 | ||
P646 | Freebase ID | /m/07qhfl |
P4317 | GARD rare disease ID | 6202 |
P7464 | Genetics Home Reference Conditions ID | cowden-syndrome |
P665 | KEGG ID | H01222 |
P6366 | Microsoft Academic ID | 2780846426 |
P5270 | Mondo ID | MONDO_0008021 |
P1748 | NCI Thesaurus ID | C3076 |
P492 | OMIM ID | 158350 |
158350 | ||
P10283 | OpenAlex ID | C2780846426 |
P1550 | Orphanet ID | 201 |
P4233 | PatientsLikeMe condition ID | cowden-syndrome |
P5082 | Store medisinske leksikon ID | Cowdens_syndrom |
P2892 | UMLS CUI | C0018553 |
C0391826 | ||
P11430 | UniProt disease ID | DI-01440 |
P11143 | WikiProjectMed ID | Cowden syndrome |
P3471 | WikiSkripta article ID | 52940 |
P2293 | genetic association | PTEN | Q14878377 |
P1995 | health specialty | neurology | Q83042 |
oncology | Q162555 | ||
gastroenterology | Q120569 | ||
medical genetics | Q1071953 | ||
P5008 | on focus list of Wikimedia project | WikiProject Medicine | Q4099686 |
Q35755400 | First Polish Cowden syndrome patient with confirmed PTEN gene mutation | main subject | P921 |