Maffucci syndrome
MIM.166000 3p22-p21.1
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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)
- 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)