Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 55-year-old woman who underwent a right radical mastectomy for infiltrating lobular carcinoma was found to have multiple diffuse osteoblastic bone lesions. Since she was asymptomatic, had no elevation of alkaline phosphatase, and the lesions did not take up technetium pyrophosphate on bone scan, she was thought to have osteopoikilosis. An iliac bone biopsy was performed that showed greatly thickened bony trabeculae with diffuse delicate marrow fibrosis entrapping easily overlooked short strands of small malignant cells. The histologic picture also closely resembled osteopoikilosis. Although infiltrating lobular carcinoma has been recognized as separate from ductal carcinoma in the primary site, its recognition in metastatic foci is still vague. Attention is drawn to its histologic appearance in skeletal metastases so that such lesions will be more recognizable in the future.
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PMID:Lobular carcinoma of the breast metastatic to bone with unusual clinical, radiologic, and pathologic features mimicking osteopoikilosis. 669 19

Buschke-Ollendorf syndrome is a rare condition characterized by uneven sclerotic, osseous formations seen on X-ray (osteopoikilosis) and fibrous skin papules (dermatofibrosis lenticularis disseminata). We report an 82-year-old man with this syndrome. Awareness of the condition is important to avoid misdiagnosis and hazardous management designed for other disorders, such as prostatic metastases.
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PMID:[Buschke-Ollendorf syndrome]. 933 71

A case of metastatic lobular carcinoma of the breast in conjunction with osteopoikilosis is described. Widespread diffuse sclerotic bone lesions were identified on radiographs in a patient with breast carcinoma. In addition computed tomography demonstrated discrete spherical areas of increased density throughout the skeleton manifest typically by osteopoikilosis. No systemic symptoms were evident, blood parameters were normal and the lesions did not demonstrate any increased uptake of technetium on bone scan. An iliac crest bone biopsy, however, revealed metastatic disease in addition to osteopoikilosis. Conventional radiological investigations may not delineate metastasis on a background of bone dysplasia.
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PMID:Metastatic breast carcinoma to bone disguised by osteopoikilosis. 1265 41

Osteopoikilosis is a rare, inherited bone disorder, which is usually found incidentally on x ray. It may be mistaken for other, more serious disorders such as bony metastases, causing undue distress to the doctor and patient.
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PMID:A cause for concern? Osteopoikilosis found incidentally in the emergency department: a case report. 1745 89

Osteopoikilosis (OPK) is a rare, congenital bone disorder characterised by multiple round or ovoid radio densities appearing throughout the axial and appendicular skeleton. It is usually an asymptomatic condition diagnosed incidentally on radiological imaging, and may mimic other bone disorders, including osseous metastases. In this case report, we present a patient with lobular breast cancer whose computed tomography findings were thought to be consistent with osseous cancer metastases. Radionuclide bone scintigraphy plays a key role in distinguishing OPK from osteoblastic bone metastases. This case demonstrates the importance of a clinical awareness of OPK to ensure that patients with potentially curable disease are properly diagnosed.
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PMID:Osteopoikilosis masquerading as osseous metastases in breast cancer. 2199 37

Sclerosing bone dysplasias are skeletal abnormalities of varying severity with a wide range of radiologic, clinical, and genetic features. Hereditary sclerosing bone dysplasias result from some disturbance in the pathways involved in osteoblast or osteoclast regulation, leading to abnormal accumulation of bone. Several genes have been discovered that, when disrupted, result in specific types of hereditary sclerosing bone dysplasia (osteopetrosis, pyknodysostosis, osteopoikilosis, osteopathia striata, progressive diaphyseal dysplasia, hereditary multiple diaphyseal sclerosis, hyperostosis corticalis generalisata), many of which exhibit similar pathologic mechanisms involving endochondral or intramembranous ossification and some of which share similar underlying genetic defects. Nonhereditary dysplasias include intramedullary osteosclerosis, melorheostosis, and overlap syndromes, whereas acquired syndromes with increased bone density, which may simulate sclerosing bone dysplasias, include osteoblastic metastases, Paget disease of bone, Erdheim-Chester disease, myelofibrosis, and sickle cell disease. Knowledge of the radiologic appearances, distribution, and associated clinical findings of hereditary and nonhereditary sclerosing bone dysplasias and acquired syndromes with increased bone density is crucial for accurate diagnosis.
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PMID:Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis. 2208 76

Osteopoikilosis (OPK) is a benign, rare, asymptomatic osteosclerotic bone dysplasia which is inherited as an autosomal dominant trait. It may develop during childhood and persists throughout life. Diagnosis is usually made incidentally according to radiographs. It may be confused with other conditions, such as osteoblastic metastases. OPK must be in differential diagnosis when multiple, small, well-defined, symmetric bone lesions are identified on plain radiograph to avoid alarming the patient with more serious disease and misdiagnosis. Bone scintigraphy is normal and useful for differential diagnosis. Although it is usually asymptomatic, effusion and joint pain can be found in 15-20 % of patients. In this study, we report a 17-year-old boy who suffers from low back pain and has a mother with similar involvement. He was diagnosed OPK radiologically. We also review the clinical manifestation, pathophysiology, diagnosis and treatment of OPK in this paper.
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PMID:Osteopoikilosis: report of a familial case and review of the literature. 2535 85

We report a case of traumatic humeral neck fracture occurring in a patient with osteopoikilosis after a motorcycle accident. The radiograph revealed the fracture but also multiple bone lesions. A few years before, the patient had been operated for a maldiagnosed chondrosarcoma of the humeral head. Osteopoikilosis is a rare benign hereditary bone disease, whose mode of inheritance is autosomal dominant. It is usually asymptomatic and discovered incidentally on radiograph that shows the presence of multiple osteoblastic lesions. It can mimic other bone pathologies, in particular osteoblastic metastases. Osteopoikilosis is a diagnosis that should be kept in mind to avoid misdiagnosis, particularly with regard to cancer metastasis. This disorder does not require any treatment and complications are rare. However, there may be associated anomalies that require follow-up.
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PMID:Traumatic fracture in a patient with osteopoikilosis. 2547 68

In patients with breast cancer, the appearance of sclerotic bone lesions on imaging should raise the suspicion of skeletal metastases. However, before making the diagnosis it is important to consider the clinical context and remember that there are conditions that can mimic bone metastasis. We present two cases of mimics of bone metastasis: systemic mastocytosis and osteopoikilosis. These cases demonstrate clinical and radiological characteristics that would make a diagnosis of bone metastasis less likely, and highlight the need for an awareness of mimics of bone metastasis.
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PMID:Two cases of mimics of bone metastasis in breast cancer. 3036 50

Osteopoikilosis (OPK) is a rare, benign, asymptomatic bone disease causing dense bone lesions, which could be interpreted as bone metastasis. The symmetric distribution, lack of bone destruction, and location differentiate OPK from metastatic disease. It is essential to be aware of this benign condition to prevent diagnostic errors. We present the case of a 10-year-old female patient with the concurrent diagnosis of secreting mixed germ cell tumor with Yolk Salk Tumor compound and OPK. Physical examination disclosed an abdominal mass, and blood tests showed increased alfa-fetoprotein and human chorionic gonadotropin levels. Computed tomography revealed a pelvic tumor associated with multiple radiodense lesions distributed throughout the bone skeleton. Lesions were inactive on scintigraphy and FDG-PET. Pathology of the bone showed normal bone tissue and ruled out metastasis. The patient achieved complete remission after chemotherapy and surgery and remains in continued complete remission 28 months from diagnosis. The genetic analysis confirmed the LEMD3 germline mutation confirming OPK.
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PMID:Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor. 3095 Oct 20


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