In addition to Sturge-Weber syndrome, this category includes such rare entities as Klippel-Trenaunay syndrome (CM + VM +/- LM + limb overgrowth), Proteus syndrome (CM, VM and/or LM + asymmetric somatic overgrowth) and Maffucci syndrome
(VM +/- spindle cell hemangioma + enchondroma).
Approximately 10% of cases are associated with other developmental anomalies or syndromes, including early-onset varicose veins, lymphedema, Klippel-Trenaunay-Weber syndrome, Maffucci syndrome, epithelioid hemangioendothelioma, and superficial cutaneous lymphatic malformations .
Zhao, "Maffucci syndrome with the spindle cell hemangiomas in the mucosa of the lower lip: a rare case report and literature review," Journal of Cutaneous Pathology, vol.
Two cases occurred in younger males, aged 34 and 35, with Maffucci Syndrome, a rare disease in which diffuse enchondromatosis and cutaneous hemangiomas occur throughout the body [18, 20].
([dagger]) Patient with Maffucci Syndrome. ([double dagger]) Patient with recurrences treated in numerical order.
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.
The differential diagnosis includes Maffucci syndrome
, venous lakes, Osler-Weber-Rendu syndrome, hereditary hemorrhagic telangiectasia, disseminated hemangiomatosis, Kaposi's sarcoma, glaomangiomas.6
Composite hemangioendothelioma: report of 5 cases including one with associated Maffucci syndrome
. Am J Surg Pathol.
If a patient demonstrates soft-tissue hemangiomas in addition to multiple enchondromas, the condition is called Maffucci syndrome
(1-3,6,7) They can also be associated with Ollier disease and Maffucci syndrome