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Maffucci syndrome

MIM.166000 3p22-p21.1

Thursday 19 June 2003

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

- cerebral tumors

- 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)

- Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. (22057234)

See also

- enchondromatosis

  • Maffucci syndrome

References

- Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Pansuriya TC, van Eijk R, d’Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV. Nat Genet. 2011 Nov 6. PMID: 22057234


MIM.166000

Portfolio

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  • Enchondroma and fusiform cell hemangioendothelioma in Maffucci (...)
  • Enchondroma in Maffucci syndrome
  • Enchondroma in Maffucci syndrome
  • Enchondroma in Maffucci syndrome
  • Enchondroma in Maffucci syndrome
  • Enchondroma in Maffucci syndrome
  • Enchondroma in Maffucci syndrome
  • Enchondroma in Maffucci syndrome
  • Spindle cell hemangioendothelioma in Maffucci syndrome
  • Spindle cell hemangioendothelioma in Maffucci syndrome
  • Spindle cell hemangioendothelioma in Maffucci syndrome
  • Spindle cell hemangioendothelioma in Maffucci syndrome
  • Spindle cell hemangioendothelioma in Maffucci syndrome
  • Spindle cell hemangioendothelioma in Maffucci syndrome
  • Spindle cell hemangioendothelioma in Maffucci syndrome
  • Spindle cell hemangioendothelioma in Maffucci syndrome
  • Spindle cell hemangioendothelioma in Maffucci syndrome
  • Spindle cell hemangioendothelioma in Maffucci syndrome
  • Spindle cell hemangioendothelioma in Maffucci syndrome
  • Spindle cell hemangioendothelioma in Maffucci syndrome