Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Physical examination of a 9-year-old girl with a 2-month history of swelling of the left orbit demonstrated an orbital mass, blepharoptosis, and proptosis. Computed tomography revealed a 2 x 3-cm mass in the superior left orbit that expanded orbital dimensions. Radiography showed abnormalities in the parietal and frontal bones and distal right tibia. Magnetic resonance imaging demonstrated an 8.5-cm abnormality of the marrow space of the right mid-tibia. Bone marrow biopsy was unremarkable. Orbital and tibial biopsies showed a nonspecific chronic inflammation. Idiopathic inflammation that involves the orbit (orbital pseudotumor) and that has systemic manifestations may mimic more serious conditions, such as metastases from rhabdomyosarcoma or Ewing sarcoma, chronic recurrent multifocal osteomyelitis (CRMO), and SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis). Accurate diagnosis requires careful clinical and pathologic examinations.
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PMID:Orbital inflammatory syndromes with systemic involvement may mimic metastatic disease. 1287 85

Cranial fasciitis is a rare lesion of young children characterized by proliferation of fibroblastic spindle cells. Most are scalp masses and are only rarely intracranial, where an association with radiation therapy is exceptional. We report a 32-month-old toddler with a facial rhabdomyosarcoma, diagnosed at 3 months of age, and treated with surgery, chemotherapy and brachytherapy. Brain MRI at 28 months revealed a large, left parasagittal, dural-based, T2 hyperintense and T1 hypointense enhancing mass with superior sagittal sinus compression and bony hyperostosis. The mass was completely resected during an open craniotomy. Histologically, the lesion was comprised of loosely and haphazardly arranged bland spindle cells embedded in a myxoid background. Thick hyalinized collagen bundles were especially prominent. The spindle cells reacted for vimentin but not SMA, myogenin, MyoD1 or EMA. A diagnosis of cranial fasciitis was rendered. The role of radiation therapy in the pathogenesis of intracranial cranial fasciitis is discussed.
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PMID:Parasagittal cranial fasciitis following infratemporal fossa rhabdomyosarcoma. 2428 61

This case highlights the management of orbital rhabdomyosarcoma in a child with Li Fraumeni syndrome (LFS). Treatment with chemotherapy and eventual orbital exenteration enabled margin-free control of the tumor. Radiation therapy was avoided to reduce the risk of inducing additional malignancy. Reactive orbital hyperostosis was observed postoperatively and was confirmed with surgical biopsy of the orbital roof. In this case, systemic surveillance imaging, which is necessary in patients with LFS, revealed an adrenal cortical carcinoma.
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PMID:Management of orbital rhabdomyosarcoma in a child with Li-Fraumeni syndrome. 3097 70