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The appearances of 34 parapelvic cysts diagnosed by computed tomography (CT) in 29 patients are described. The majority were found as an incidental finding but some caused hydrocalycosis and, in one instance, hypertension. Their etiology, CT features, and differential diagnosis are discussed. The specificity of CT in these cases eliminates the need for invasive diagnostic procedures.
We report an unusual case of fat replacement of the pancreatic body and tail. Findings on contrast-enhanced computed tomography and ERCP could be confused with dorsal pancreas agenesis. Histopathologic examination of the resected specimen revealed massive fat replacement with complete absence of the acinar and ductal tissue and scattered islets of Langerhans.
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The clinical, pathologic, and roentgenographic features of macrodactylia fibrolipomatosis described are based on 40 cases from the literature and five cases seen by the authors. This condition previously has been described as macrodactyly, megalodactyly, macrodystrophia lipomatosa, dactylomegaly, and local gigantism. We believe macrodactylia fibrolipomatosis is the best term because it describes the characteristics which separate this condition from other forms of macrodactyly. Macrodactylia fibrolipomatosis is a form of macrodactyly noticed soon after birth. Usually affected are multiple adjacent digits on the lateral aspect of the hand or the medial aspect of the foot, although a single digit may be involved. Roentgenograms show bony enlargement, often with medial deviation in the hand and lateral deviation in the foot. The soft tissues ventral to the affected bones are diffusely enlarged and are predominantly of fat density, commonly mixed with bands of denser connective tissue. The cause of this rare condition is obscure but it may be related to fibrofatty tumors, often found at surgery, impinging on nerves supplying the enlarged digits.
We report an adult male patient born to normal and non-consanguineous parents with midline craniofacial defects associated with branchial arch anomalies. This combination of signs belongs to the oculoauriculofrontonasal spectrum. We compare our case with those previously reported who had similar findings and discuss clinical aspects of the oculoauriculofrontonasal spectrum and frontofacionasal dysplasia.
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Traditional Chinese herbal medicines are widely available in Western society and are popular as a form of 'natural' alternative medicine. Their use is increasing, as they are perceived to be free of side effects, but they remain largely unregulated. We describe two patients who suffered severe hepatitis, one of whom died, after taking Chinese herbal remedies for minor complaints. We also review the English-language literature on hepatitis associated with Chinese herbs. Two products appear to be implicated frequently: Jin bu huan was taken by 11 patients, and Dictamnus dasycarpus was taken by six patients, including both fatal cases. It is difficult to provide conclusive evidence of what caused hepatitis, as these products are mixtures that may contain adulterants. These cases highlight not only the potential dangers of these products to consumers but also the need for greater control of their manufacture and use.
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Nevus lipomatosus is a rare connective tissue nevus characterized by mature adipose tissue within the dermis. An 11-year-old boy presented with an eyelid papule that had been observed expectantly since birth and had exhibited gradual and progressive enlargement. Excisional biopsy revealed a polypoid mass formed of mature adipocytes within the dermis and subconjunctival mucosa consistent with nevus lipomatosus. This is the first case of nevus lipomatous to our knowledge to be reported on the eyelid. Nevus lipomatous or pedunculated lipofibroma can arise on the eyelid and should be considered in the differential diagnosis of eyelid tumors.
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Musician's focal dystonia is a motor dysfunction that appears in artists after years of repetitive and fine movements during performance. This is the condition most feared by musicians because it leads to difficulties in controlling movements, which can interrupt or terminate their careers. It is characterized by the onset of involuntary muscle contractions and movements; its distinguishing feature is that it only occurs during a specific and well-defined action. It is rarely diagnosed because those who experience it do not seek medical attention for fear or shame, but also because many physicians do not consider the disease in the differential diagnosis of motor dysfunction. We describe the case of a guitarist who presented to our outpatient clinic after many years of experiencing musician's focal dystonia. He reported a long list of misdiagnoses and a variety of unsuccessful treatments.Musician's focal dystonia is an under-diagnosed condition. Treatment benefit is limited despite recent innovative approaches. Rheumatologist should be aware of this condition.
We report two cases of lipoblastoma of the buttock in a 10-month-old boy and a 20-month-old girl, the first with rearrangement of chromosome 8 and the second without cytogenetic abnormality, and one case of lipoblastomatosis of a leg in a 6-month-old boy with a normal karyotype but with a rearrangement of the PLAG1 gene. Lipoblastoma and lipoblastomatosis are two different presentation of the same rare benign soft tissue mesenchymal tumour arising from fetal white fat and occurring almost exclusively in young children under 3 years. These neoplasms have no malignant potential but may recur in cases of incomplete resection. Histological diagnosis sometimes used to be difficult because of the close resemblance of the lesion with myxoïd liposarcoma. Nowadays, cytogenetic analysis may contribute to the diagnosis by showing abnormalities of the long arm of chromosome 8, leading to rearrangement of the PLAG1 gene. Actual advances in cytogenetic molecular analysis may aid in accurate diagnosis.
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