[家族性皮肤黏液瘤和斑点性色素沉着(卡尼氏综合症)的病例]。

T Koyano, T Satoh, N Ohtaki
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引用次数: 0

摘要

1985年,Carney等人报道了多发性黏液瘤、斑点性色素沉着和内分泌过度活动,随后证实了该疾病的显性遗传。诊断的标准是出现以下两种或两种以上的情况:(1)心脏黏液瘤,(2)皮肤黏液瘤,(3)乳腺黏液瘤,(4)斑点状黏液皮肤色素沉着,(5)原发性色素结节性肾上腺皮质病(库欣综合征),(6)睾丸肿瘤(性早熟),(7)垂体腺瘤分泌生长激素(肢端肥大症或巨骨症)。我们遇到了一个家庭,他们的母亲和女儿都受到了影响。病例1是一名43岁女性,患有多发性皮肤黏液瘤、乳腺黏液瘤和斑点性皮肤黏液色素沉着。病例2,病例1的19岁女儿有多发皮肤黏液瘤和斑点性皮肤色素沉着。这两个病例都符合诊断的标准。我们的报道被认为是关于日本核电站的第一篇报道。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Familial cases of cutaneous myxomas and spotty pigmentation (Carney's complex)].

In 1985, Carney et al reported a complex of myxomas, spotty pigmentation, and endocrine overactivity and subsequently demonstrated dominant inheritance of the condition. The criteria for diagnosis of the complex is the presence of two or more of the following conditions: (1) cardiac myxoma, (2) cutaneous myxoma, (3) mammary myxoma, (4) spotty mucocutaneous pigmentation, (5) primary pigmented nodular adrenocortical disease (Cushing's syndrome), (6) testicular tumors (sexual precocity), (7) pituitary adenoma secreting growth hormone (acromegaly or gigantism). We encountered a family with an affected mother and daughter. Case 1 was a 43-year-old woman with multiple cutaneous myxomas, mammary myxomas and spotty mucocutaneous pigmentation. Case 2, the 19-year-old daughter of case 1 had multiple cutaneous myxomas and spotty cutaneous pigmentation. These two cases both met the criteria for the diagnosis of the complex. Our report is believed to be the first report on the complex in Japan.

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