Maffucci syndrome


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Maf·fuc·ci syn·drome

(mă-fū'chē), [MIM*166000]
enchondromas of the limbs in association with venous and lymphaticovenous malformation; propensity to develop other benign or malignant tumors. The ipsilateral lower limb is usually involved, but the ipsilateral upper extremity or (rarely) a contralateral lower limb (usually isolated) may be included. Abdomen, flank, and back may rarely be included. Compare: Parkes Weber syndrome.

Maf·fuc·ci syn·drome

(mă-fū'chē sin'drōm)
Enchondromas of the limbs in association with venous and lymphaticovenous malformation; propensity to develop other benign or malignant tumors.
Synonym(s): Kast syndrome.

Maffucci,

Angelo, Italian physician, 1847-1903.
Maffucci syndrome - enchondromatosis with multiple cavernous hemangiomas. Synonym(s): dyschondroplasia with hemangiomas
References in periodicals archive ?
1-3,6,7) They can also be associated with Ollier disease and Maffucci syndrome.
Juvenile GCTs are exceedingly rare but can also be associated with mesodermal dysplastic syndromes characterized by the presence of enchondromatosis and hemangioma formation, such as Ollier disease or Maffucci syndrome.
Maffucci syndrome is a rare, non-hereditary sporadic subtype characterized by hemangiomas in addition to multiple enchondromas.
First described by Angelo Maffucci in 1881, Maffucci syndrome is an exceedingly rare disease with less than 200 cases reported.
Maffucci syndrome is a sporadic disorder occurring only in isolated patients without familial transmission.
The presentation of the enchondromas in Maffucci syndrome is asymmetrically distributed and can be extremely variable in terms of size, number, location, age, and evolution.
Radiography is crucial in making the diagnosis of Maffucci syndrome.
The patient presented here has the spindle cell type, which is much more specific for Maffucci syndrome (12) and comprised of cavernous vascular spaces with organized thrombi and phleboliths.
The differential diagnosis includes Maffucci syndrome, venous lakes, Osler-Weber-Rendu syndrome, hereditary hemorrhagic telangiectasia, disseminated hemangiomatosis, Kaposi's sarcoma, glaomangiomas.
Composite hemangioendothelioma: report of 5 cases including one with associated Maffucci syndrome.
If a patient demonstrates soft-tissue hemangiomas in addition to multiple enchondromas, the condition is called Maffucci syndrome.
Recent research has identified a functionally deleterious mutation in the PTHR1 gene in the enchondromas of several patients with Oilier disease and Maffucci syndrome.