Maffucci syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. (Subtype of enchondromatosis (MIM.166000) associating hemangiomas)

Synopsis:

 multiple cartilagenous tumors (see enchondromatosis)

• multiple enchondromas
• chondrosarcoma

 multiple vascular malformations

• multiple hemangiomas (hemangiomatosis)
• dermatomal cavernous haemangiomatosis (#11069479#)
• lymphangioma (#12584501#)
• angiosarcoma (#10731892#, #4065351#)
• giant multifocal venous malformation with monomelic predominance (#10612860#)
• spindle cell hemangioma, spindle cell hemangioendothelioma (#10592415#, #9732761#, #9675528#, #9653917#)
• digestive hemangioma (#10354047#, #8633482#), small bowell hemangiomatosis (#8633482#)
• vascular aneurysm (#1876972#, #6697134#)
• fibromuscular dysplasia of intracranial arteries (#563016#)

 cerebral tumors

• intracerebral low-grade astrocytomas (#10467905#, #10392492#)

 ovarian juvenile granulosa cell tumor (#1553918#)
 ovarian fibrosarcoma (#2344976#)
 esthesioneuroblastoma (olfactory neuroblastoma) (#15221218#)

Rare associations:

 Cushing disease
 primary hyperparathyroidism (#7308164#)
 pituitary adenoma(#2825361#,#3673686#)
 thyroid adenoma (#3673686#)
 endocrine adenomatosis (#12657#)
 intracranial chordoma (#8052391#)
 acute lymphoid leukemia (#8214367#)
 acute myelocytic leukemia (#2321048#)
 carcinoma of the breast (#2825361#)
 fibroadenoma of the breast (#7288688#)
 mesothelioma (#7112179#)

Etiology:

 mutation in the PTH/PTHRP type I receptor (PTHR1) (MIM.168468)