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About 220 results

ALLMedicine™ Maffucci Syndrome Center

Research & Reviews  109 results

Monomelic Maffucci syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7931748
BMJ Case Reports; Verma GG, Jain VK et. al.

Mar 4th, 2021 - Maffucci syndrome is a rare congenital, non-hereditary condition characterised by presence of multiple enchondromas and haemangiomas. Enchondromatous lesions affecting epiphysial growth plates can lead to angular deformities and leg-length discrep...

Gene of the month: IDH1.
https://doi.org/10.1136/jclinpath-2020-206813
Journal of Clinical Pathology; Bruce-Brand C, Govender D

Jul 30th, 2020 - Isocitrate dehydrogenase 1 (IDH1) encodes a protein which catalyses the oxidative decarboxylation of isocitrate to α-ketoglutarate. Mutant IDH1 favours the production of 2-hydroxyglutarate, an oncometabolite with multiple downstream effects which ...

Malignant Transformation of Maffucci Syndrome.
https://doi.org/10.1097/RHU.0000000000001424
Journal of Clinical Rheumatology : Practical Reports on R... Triki W, Belem A et. al.

Jun 12th, 2020 - Malignant Transformation of Maffucci Syndrome.|2020|Triki W,Belem A,Labbene E,Riahi H,Chelli-Bouaziz M,|

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of c...
https://doi.org/10.1002/ajmg.a.61530
American Journal of Medical Genetics. Part A REFERENCES; El Abiad JM, Robbins SM et. al.

Mar 7th, 2020 - Ollier disease (OD) and Maffucci syndrome (MS) are characterized by multiple enchondromas. Patients with MS also have benign vascular overgrowths that become malignant in 8.5% of cases. OD is characterized by multiple enchondromas, typically unila...

Differential Diagnosis of Cartilaginous Lesions of Bone.
https://doi.org/10.5858/arpa.2019-0441-RA
Archives of Pathology & Laboratory Medicine; Suster D, Hung YP et. al.

Dec 26th, 2019 - Cartilaginous tumors represent one of the most common tumors of bone. Management of these tumors includes observation, curettage, and surgical excision or resection, depending on their locations and whether they are benign or malignant. They can b...

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Clinicaltrials.gov  109 results

Monomelic Maffucci syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7931748
BMJ Case Reports; Verma GG, Jain VK et. al.

Mar 4th, 2021 - Maffucci syndrome is a rare congenital, non-hereditary condition characterised by presence of multiple enchondromas and haemangiomas. Enchondromatous lesions affecting epiphysial growth plates can lead to angular deformities and leg-length discrep...

Gene of the month: IDH1.
https://doi.org/10.1136/jclinpath-2020-206813
Journal of Clinical Pathology; Bruce-Brand C, Govender D

Jul 30th, 2020 - Isocitrate dehydrogenase 1 (IDH1) encodes a protein which catalyses the oxidative decarboxylation of isocitrate to α-ketoglutarate. Mutant IDH1 favours the production of 2-hydroxyglutarate, an oncometabolite with multiple downstream effects which ...

Malignant Transformation of Maffucci Syndrome.
https://doi.org/10.1097/RHU.0000000000001424
Journal of Clinical Rheumatology : Practical Reports on R... Triki W, Belem A et. al.

Jun 12th, 2020 - Malignant Transformation of Maffucci Syndrome.|2020|Triki W,Belem A,Labbene E,Riahi H,Chelli-Bouaziz M,|

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of c...
https://doi.org/10.1002/ajmg.a.61530
American Journal of Medical Genetics. Part A REFERENCES; El Abiad JM, Robbins SM et. al.

Mar 7th, 2020 - Ollier disease (OD) and Maffucci syndrome (MS) are characterized by multiple enchondromas. Patients with MS also have benign vascular overgrowths that become malignant in 8.5% of cases. OD is characterized by multiple enchondromas, typically unila...

Differential Diagnosis of Cartilaginous Lesions of Bone.
https://doi.org/10.5858/arpa.2019-0441-RA
Archives of Pathology & Laboratory Medicine; Suster D, Hung YP et. al.

Dec 26th, 2019 - Cartilaginous tumors represent one of the most common tumors of bone. Management of these tumors includes observation, curettage, and surgical excision or resection, depending on their locations and whether they are benign or malignant. They can b...

see more →

News  2 results

Recurrent Cerebriform Connective Tissue Nevus on the Foot of a Patient With Proteus Syndrome
https://www.mdedge.com/dermatology/article/115831/pediatrics/recurrent-cerebriform-connective-tissue-nevus-foot-patient/page/0/1

Oct 18th, 2016 - To make a diagnosis of PS, one must have all the general criteria and various specific criteria. The revised diagnostic criteria for PS are given in the Table.

Maffucci Syndrome: A Case Report
https://www.mdedge.com/dermatology/article/66729/maffucci-syndrome-case-report
Kuwahara RT, Skinner Rb Jr.

The multiple enchondromas and hemangiomas of Maffucci syndrome affect the skin and skeletal systems. The disease develops slowly, with enlargement of enchondromas and hemangiomas occurring during the first 2 decades of life.

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