Osteofibrous Dysplasia

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OMIM 57 607278 Orphanet 59 ORPHA488265 MedGen 42 C4085248 C1709353

MeSH 44 D001848 SNOMED-CT via HPO 69 263681008 391987005 UMLS 73 C1709353 C0796000

OMIM : ⁵⁷ Osteofibrous dysplasia is a tumor-like bone lesion that usually presents as a painless swelling or anterior bowing of the tibia (Park et al., 1993), although pain may occur in up to 25% of cases and presentation may follow pathologic fracture. Most reports of osteofibrous dysplasia describe isolated tibial lesions, although a significant subgroup describe isolated and ipsilateral fibular involvement. Cases with ulnar and radial involvement have been reported (summary by Hunter and Jarvis, 2002). OSFD is characterized by radiolucent lesions located at the periosteal surface of the diaphyseal cortex, almost exclusively of the tibia and fibula. These lesions are congenital and spontaneously resolve during skeletal maturation; the residuum is most commonly mild bowing at the affected site. Prior to their resolution, secondary complications such as nonunion fractures and pseudoarthrosis formation can occur. Histologically, OSFD lesions exhibit 'zonal architecture' characterized by spindle-shaped fibroblast-like cells in the center of the lesions that are progressively replaced with peripherally located, more differentiated cells from the osteoblastic lineage. The cells lying at the center of the lesions stain for markers of undifferentiated mesenchymal cell states, whereas bridging zones of osteoid with surface osteoblasts and embedded osteocytic cells are interspersed between the lesions. In OSFD, the unossified zones eventually mineralize after replacement with normal osteoid and, finally, bone. This histologic progression corresponds with the clinical and radiographic resolution of the lesions (summary by Gray et al., 2015). Hunter and Jarvis (2002) noted that there may be a relationship between osteofibrous dysplasia and adamantinoma of long bones (102660), although the latter condition usually presents at a later age. (607278)

MalaCards based summary : Osteofibrous Dysplasia, also known as ofd, is related to fibrous dysplasia and sarcoma, synovial. An important gene associated with Osteofibrous Dysplasia is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are ERK Signaling and Developmental Biology. Affiliated tissues include bone and cortex, and related phenotypes are pectus excavatum and fibular hypoplasia

NIH Rare Diseases : ⁵³ Osteofibrous dysplasia is a rare, non-cancerous (benign) tumor that affects the long bones. It usually develops in children and adolescents. The most common location is the middle part of the tibia (shin), although the fibula (a smaller bone in the calf) and the long bones in the arm (humerus, radius, or ulna) may also be affected. In many cases, there are no symptoms and the condition is discovered when an x-ray is done for another reason (incidental finding). When symptoms are present, they most often include swelling and/or pain at the site of the tumor, a break in the bone (fracture) where it is weakened by the tumor, and/or bowing of the leg. The cause of osteofibrous dysplasia is unknown. Treatment is usually conservative, involving observation until the bone stops growing (skeletal maturity). Bracing may help prevent bowing of the limb and fractures. Surgery may be recommended once bone growth is complete. 

UniProtKB/Swiss-Prot : ⁷⁵ Osteofibrous dysplasia: A congenital disorder of osteogenesis characterized by non-neoplastic, radiolucent lesions that affect the cortical bone immediately under the periosteum. It usually manifests as a painless swelling or anterior bowing of the long bones, most commonly the tibia and fibula.

Wikipedia : ⁷⁶ Osteofibrous dysplasia (also known as ossifying fibroma) is a rare, benign non-neoplastic condition with... more...

Clinical features from OMIM:

607278

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased cell migration	GR00055-A-1	8.92	MET MUC1 NF1 VIM

Search Clinical Trials , NIH Clinical Center for Osteofibrous Dysplasia

Search GEO for disease gene expression data for Osteofibrous Dysplasia.