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斑点状骨硬化陰影を特徴とする極めて稀な骨系統疾患の1つである骨斑紋症の兄弟例を経験したので報告した.症例は,21歳の男性で,右手関節痛のため腱鞘炎と診断されたが,X線検査で,骨盤部・長管骨の骨端から骨幹端に多数の斑点状骨硬化像を認めた.骨斑紋症と診断し,兄と母に検査を行ったところ,兄にも同様の斑点状骨硬化像を認めた.骨斑紋症はほとんどが無症状であるため偶然に発見される場合が多い.常染色体優性遺伝とされているが,原因は不明である.通常は治療を必要とせず,予後は良好とされており,本症例も治療を必要としなかった.
We report two cases of osteopoikilosis, in siblings. Osteopoikilosis is a very rare disorder that is characterized by numerous small, oval or round, sclerotic foci. The proband was a 21-year-old man diagnosed with tenosynovitis based on pain in his right wrist in whom an X-ray examination revealed multiple sclerotic foci in the epiphyses of the long bones and pelvis. We made a diagnosis of osteopoikilosis and examined his elder brother and mother. The X-ray findings in his brother were similar to those of the patient. Osteopoikilosis is asymptomatic, and the diagnosis is frequently made incidentally as a result of a radiological examination for some other reason. Osteopoikilosis is inherited as an autosomal dominant trait, but its etiology is unknown. Treatment usually is unnecessary, and the prognosis is good. Our patient did not require treatment.
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