Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT/CT: A case report. Metachondromatosis (MC) is a very rare genetic disease, which is infrequently reported worldwide, which leads to osteochondroma and enchondromatosis. The disease has been shown to be associated with loss of function of the tumor suppressor gene "protein tyrosine
Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders. Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial, ear, branchial, and musculoskeletal anomalies, along with hearing loss and mild intellectual disability. Clinically, its distinction from branchiootorenal syndrome can be difficult. To date, the coexistence of OFCS and metachondromatosis has not been reported. Here, we describe a sporadic patient with both OFCS and metachondromatosis. This novel association prompts us to do some remarks on the clinical variability of branchial-arch disorders; in fact, our observations are consistent with the highly variable expressivity of OFCS and illustrate the need
Targeted disruption of Shp2 in chondrocytes leads to metachondromatosis with multiple cartilaginous protrusions. Metachondromatosis is a benign bone disease predominantly observed in the hands and feet of children or young adults demonstrating two different manifestations: a cartilage-capped bony outgrowth on the surface of the bone called exostosis and ectopic cartilaginous nodules inside the bone called enchondroma. Recently, it has been reported that loss-of-function mutations of the SHP2 gene, which encodes the SHP2 protein tyrosine phosphatase, are associated with metachondromatosis. The purpose of this study was to investigate the role of SHP2 in postnatal cartilage development, which is largely unknown. We disrupted Shp2 during the postnatal stage of mouse development
From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis Recently, loss-of-function mutations in PTPN11 were linked to the cartilage tumor syndrome metachondromatosis (MC), a rare inherited disorder featuring osteochondromas, endochondromas and skeletal deformation. However, the underlying molecular and cellular
characterised by multiple bone tumours capped by cartilage, that occur mostly in the metaphyses of long bones.Other rare forms of chondromatosis (which include metachondromatosis, spondyloenchondroplasia and genochondromatosis types I and II).Polyostotic fibrous dysplasia.Diaphyseal aclasis.Kaposi's sarcoma.Klippel-Trénaunay syndrome.InvestigationsThe basic investigation is X-ray. Most cases have diaphyseal
(enchondromas and hemangiomas) and metachondromatosis (enchondromas and hemangiomas); the former is nonhereditary, whereas the latter has autosomal dominant transmission. Enchondromatosis is associated with tumor-suppressor genes in the malignant transformation to chondrosarcomas. Notable alterations are inactivation of 9p21 and 13q14 and overexpression of p53. [18] Fiber-forming tumorsNonossifying fibroma
to metachondromatosis in humans and mice, suggesting a crucial role for SHP2 in the skeleton. However, the specific role of SHP2 in skeletal cells has not been elucidated. To approach this question, we ablated SHP2 in collagen 2α1(Col2α1)-Cre- and collagen 10α1(Col10α1)-Cre-expressing cells, predominantly proliferating and hypertrophic chondrocytes, using "Cre-loxP"-mediated gene excision. Mice lacking SHP2 in Col2α1
and treatment strategies in patients with rare diseases clinically similar to OM (e.g. metachondromatosis) or for other skeletal diseases that are not rare but widespread (e.g. osteoarthritis).
-2 gene mutations. To our knowledge, it has not been previously reported that patients may also harbor intraosseous (central) chondroid neoplasms, enchondromas, or atypical chondroid tumors or central chondrosarcomas. The combination of osteochondroma and enchondromas also exists in patients with metachondromatosis, a disorder associated with a protein tyrosine phosphatase non-receptor type 11 gene , not metachondromatosis; three patients had an exostosin-1 mutation, four patients had an exostosin-2 mutation, and no patients had a protein tyrosine phosphatase, non-receptor type 11 mutation. Six patients underwent successful operative treatment without complications or recurrences after a mean follow-up duration of forty-eight months (range, twelve to 144 months). One patient was scheduled for surgery after biopsy
SHP2-Deficiency in Chondrocytes Deforms Orofacial Cartilage and Ciliogenesis in Mice. Congenital orofacial abnormalities are clinically seen in human syndromes with SHP2 germline mutations such as LEOPARD and Noonan syndrome. Recent studies demonstrate that SHP2-deficiency leads to skeletal abnormalities including scoliosis and cartilaginous benign tumor metachondromatosis, suggesting that growth
histological analysis of cKOosx mice demonstrated enchondroma-like lesions in the bone marrow that are reminiscent of human metachondromatosis, a skeletal disorder caused by mutations in PTPN11. Our observations suggest that the development of enchondromas in metachondromatosis may be caused by reduced extracellular signal-regulated kinase/mitogen-activated protein kinase (ERK MAPK) signaling.
of PTPN11 are causative of Noonan syndrome and LEOPARD syndrome in humans in which there are recognized skeletal abnormalities that include growth retardation, spinal curvature and chest malformations. In addition, combined somatic and germline PTPN11 mutations have been shown to be responsible for a rare benign bone cartilaginous tumor disease known as metachondromatosis. In parallel, gene targeting
into hemangiosarcomas and hemangioendotheliomas. [12] * * Metachondromatosis is a very rare genetic disorder, with less than 30 reported cases. It is characterized by multiple enchondromas and osteochondromas. It has been linked to mutations in thePTPN11gene and is inherited in an autosomal dominant manner. [13] The first signs occur before puberty. Osteochondromas most commonly occur in the hands and feet syndrome: radiologic and pathologic findings. Armed Forces Institutes of Pathology. Radiographics. 2001 Sep-Oct. 21(5):1311-6. [QxMD MEDLINE Link]. [Full Text]. 13. McFarlane J, Knight T, Sinha A, Cole T, Kiely N, Freeman R. Exostoses, enchondromatosis and metachondromatosis; diagnosis and management. Acta Orthop Belg. 2016 Mar. 82 (1):102-5. [QxMD MEDLINE Link]. [Full Text]. 14
osteochondromas or enchondromas are part of another syndrome such as trichorhinophalangeal syndrome type 2, metachondromatosis or Trevors disease. We will also exclude studies where patients have solitary osteochondromas or enchondromas. If we find studies with both multiple and solitary osteochondromas/ enchondromas with corresponding subgroup analyses, these subgroups will be included. If the article does
evaluation of the osteochondromas. Diagnostic criteria (WHO 2020) include radiological findings of at least two osteochondromas of the juxta-epiphyseal region of long bones, and a positive family history and/or a proven germline mutation in one of the EXT genes.Differential diagnosisMO should be distinguished from metachondromatosis, dysplasia epiphysealis hemimelica and Ollier disease.Antenatal