Diaphyseal medullary stenosis with malignant fibrous histiocytoma - CISMeF
Diaphyseal medullary stenosis with malignant fibrous histiocytomaOMIM Phenotype
Preferred Label : Diaphyseal medullary stenosis with malignant fibrous histiocytoma;
Symbol : DMSMFH;
CISMeF acronym : BDMF; DMSMFH;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : BDMF; Bone dysplasia with medullary fibrosarcoma; Myopathy, limb-girdle, with bone fragility; Bone dysplasia with malignant fibrous histiocytoma;
Description : Diaphyseal medullary stenosis with malignant fibrous histiocytoma is an autosomal
dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical
growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is
progressive bowing of the lower extremities. In 2 families, affected individuals also
showed a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35%
of affected individuals develop an aggressive form of bone sarcoma consistent with
malignant fibrous histiocytoma or osteosarcoma. Thus, the disorder may be considered
a tumor predisposition syndrome (summary by Camacho-Vanegas et al., 2012).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the methylthioadenosine phosphorylase gene (MTAP, 156540.0001);
Neoplasia : Malignant fibrous histiocytoma (in about 35% of patients); Osteosarcoma; Fibrosarcoma;
Laboratory abnormalities : Serum alkaline phosphatase normal or mildly increased; Serum creatine kinase normal or mildly increased;