一个患有三症组21的患者的阿梅拉诺性黑色素瘤:临床和皮肤镜表现
Marion Leahy1, Karen Reidy2, Mary Laing2,3
1Department of Dermatology, University Hospital Galway, Galway, Ireland marionleahy12@gmail.com.
BMJ case reports
|August 19, 2023
概括
本案例研究报告了第一个患有 trisomy 21 患者的 amelanotic 黑色素瘤病例. 它强调了在这个人群中寻求专家皮肤病理评估对于不寻常的皮肤病变的重要性.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 皮肤病学 皮肤病学
背景情况:
- 黑色素瘤是一种罕见的黑色素瘤亚型 (2-8%的病例).
- 患有21型三症的个体中黑色素瘤的发病率没有得到充分的证据.
- 由于额外的癌症保护基因,三体性21可能会对黑色素瘤产生保护作用.
研究的目的:
- 报告第一个患有 trisomy 21 患者的 amelanotic 黑色素瘤病例.
- 为增加有关三发性21个体黑色素瘤的有限文献做出贡献.
主要方法:
- 对三发性21患者黑色素瘤病例的文献综述.
- 一个患有三发性病21号和黑色素瘤的患者的病例报告.
主要成果:
- 在患有21型三症的个体中确定了四例皮肤黑色素瘤.
- 这是第一个在患有21型三症的患者中报告的乳腺癌黑色素瘤病例.
- 这代表了 trisomy 21 患者报告的第五个黑色素瘤病例.
结论:
- 这一病例是第一个有记录的患有21型三症的患者中艾美拉诺性黑色素瘤的病例.
- 突出了不清楚皮肤病变的专家转诊的必要性,特别是在患有三综合症21的患者中.
- 有助于了解患有遗传疾病的个体的黑色素瘤风险和表现.
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