Maffucci syndrome
MIM.166000 3p22-p21.1
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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).
Synopsis
multiple cartilagenous tumors (see enchondromatosis)
- multiple enchondromas
- chondrosarcoma
multiple vascular dysplasias or vascular tumors
- 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#)
- composite hemangioendothelioma (#17895759#)
- 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)
See also
Ollier disease
enchondromatosis