21 三体综合征患者的无黑色素性黑素瘤：临床表现和皮肤镜表现。
Amelanotic melanoma in a patient with trisomy 21: clinical and dermoscopic presentation.
机构信息
Department of Dermatology, University Hospital Galway, Galway, Ireland
Department of Dermatology, University Hospital Galway, Galway, Ireland.
出版信息
BMJ Case Rep. 2023 Aug 18;16(8):e255503. doi: 10.1136/bcr-2023-255503.
Amelanotic melanoma is an uncommon form of melanoma; accounting for 2%-8% of all melanoma cases. In the human population, the incidence of melanoma in patients with trisomy 21 is relatively unknown. It is theorised that having an extra copy of chromosome 21 is protective against melanoma development as people with trisomy 21 also carry an extra copy of the genes on that chromosome including any that protect against cancer. A literature review revealed four other reported cases of cutaneous melanoma in persons with trisomy 21. To the authors' knowledge, this is the first case of amelanotic melanoma presenting in a patient with trisomy 21 and the fifth case of melanoma overall reported in a patient with trisomy 21.This case highlights the need for specialist referral of all new skin lesions where the diagnosis is unclear.
无黑色素性黑素瘤是一种罕见的黑素瘤形式；占所有黑素瘤病例的 2%-8%。在人类中，21 三体患者的黑素瘤发病率相对未知。据推测，额外的 21 号染色体拷贝对黑素瘤的发展具有保护作用，因为 21 三体患者还携带该染色体上的额外基因拷贝，包括任何对癌症具有保护作用的基因。文献回顾显示，还有另外 4 例 21 三体患者患有皮肤黑素瘤。据作者所知，这是首例在 21 三体患者中出现的无黑色素性黑素瘤病例，也是第五例在 21 三体患者中报告的黑素瘤病例。本病例强调了对所有诊断不明确的新皮肤病变，均需进行专科转诊。
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