Maffucci, Maffucci disease, hemangiomatosis osteolytica
Definition: Maffucci syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. It is a subtype of enchondromatosis (Ollier disease) (MIM.166000) associating hemangiomas. As multiple enchondromatosis, Maffucci disease is caused by mutation in the PTH/PTHRP type I receptor (PTHR1) (MIM.168468).
Images
spindle cell hamngioma in Maffucci syndrome (...)
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Tumoral predisposition
Articles
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Maffucci syndrome
19 June 2003 -
renal oncocytosis
21 February 2005renal oncocytomatosis
Definition: Renal oncocytosis is a rare disorder in which numerous oncocytic nodules develop in the kidney. Renal oncocytosis is a precursor lesion of renal oncocytoma and chromophobe renal cell carcinoma.
The renal cell neoplasms of oncocytosis seem to have distinct morphologic, immunohistochemical, and cytogenetic profiles and likely are a distinct entity, not closely related to oncocytoma or chromophobe renal cell carcinoma. (#20305535#)
References
Renal (...) -
Rothmund-Thomson syndrome
28 October 2003poikiloderma atrophicans and cataract
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tuberous sclerosis
15 December 2003Tuberous sclerosis complex (TSC), Bourneville tuberous sclerosis
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von Hippel-Lindau disease
20 November 2003von Hippel-Lindau syndrome, VHL
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Denys-Drash syndrome
11 February 2004Ent. 1967
Synospsis
diffuse mesangial sclerosis (DMS)
male sex reversal (male pseudohermaphrosim)
Etiology
constitutional punctual mutations in the WT1 gene (zing-fingers)
References
Management of Wilms tumors in Drash and Frasier syndromes. Auber F, Jeanpierre C, Denamur E, Jaubert F, Schleiermacher G, Patte C, Cabrol S, Leverger G, Nihoul-Fékété C, Sarnacki S. Pediatr Blood Cancer. 2009 Jan;52(1):55-9. PMID: #18816692#
Case report: WT1 exon 6 truncation mutation and ambiguous (...) -
Gardner syndrome
9 August 2004Images
focal matrical focus in epidermoid cyst : a clue to Gardner’s syndrome
https://twitter.com/BenjaminAwood/status/817171629843316736
https://www.ncbi.nlm.nih.gov/pubmed/27914683
Synopsis
digestive tumors predisposition
numerous adenomatous colonic polyps (colonic adenomas)
gastric fundic gland polyposis
duodenal ampulloma
adenoma of the common human bile duct (#9250908#)
jejunal myoepithelial hamartoma
minor dental abnormalities
caniofacial osteomas
mandibular (...) -
MUTYH-associated polyposis
5 June 2009MAP; MYH-associated polyposis
Definition: MUTYH-associated polyposis (MAP) is a recessively inherited disorder which predisposes biallelic carriers for a high risk of polyposis and colorectal carcinoma (MAP-CRC).
This recently recognized type of adenomatous polyposis was first documented in a Welsh kindred in which three siblings had multiple colorectal adenomas and carcinomas but lacked a germline APC mutation.
MUTYH-associated polyposis (MAP) may be difficult to distinguish from (...) -
Perlman syndrome
31 May 2005association renal hamartoma, nephroblastomatosis and fetal gigantism. Ent. Nom. 1973.
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dyskeratosis congenita
18 November 2003congenital dyskeratosis, Zinsser-Engman-Cole syndrome
Definition: Dyskeratosis congenita (DC) is a rare inherited syndrome characterized by the triad of abnormal skin pigmentation, nail dystrophy, mucosal leucoplakia and bone marrow failure syndrome.
Synopsis
aplastic anemia
bone marrow hypoplasia with bone marrow failure and pancytopenia (40%)
bone marrow failure syndrome
anemia
leucopenia
thrombopenia
erythrokeratodermia variablis
chronic keratoconjunctivitis
nail (...)
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