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NEJM看图识病(240)色素角化型 斑痣性错构瘤病

丁香评论员 · 最后编辑于 2022-10-09 · IP 未知未知
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这个帖子发布于 5 年零 265 天前,其中的信息可能已发生改变或有所发展。

A 37-year-old man was referred to the dermatology clinic for evaluation of skin lesions that had been present since birth. On physical examination, two types of lesions were observed: brownish hyperkeratotic papules following Blaschko’s lines (arrowhead) and pigmented papules distributed in a segmental pattern (arrow).

37岁男患自出生后即有皮肤异常。查体 可见两种形态的皮损,右上肢、胸部棕色过度角化的丘疹,,,颜面颈部 散在分布的黑色色素沉着的丘疹。

Biopsy specimens obtained from the right arm and the left side of the neck indicated that the hyperkeratotic papules were sebaceous nevi and the pigmented papules intradermal melanocytic nevi.

病理活检 示 右上肢的为 过度角化的皮脂痣,左颈部为 皮内黑色素痣。

An additional biopsy specimen obtained from a lesion on the right forearm (not shown) revealed squamous-cell carcinoma.

右前臂活检示 磷状细胞癌。

Genetic testing was performed on both types of nevi and revealed the same HRAS c.181C→A (p.Gln61Lys) mosaic mutation in both samples.

基因检测示两种痣 均为同一基因突变。

A diagnosis of phakomatosis pigmentokeratotica was made.

诊断为 色素角化型 斑痣性错构瘤病? 不好翻译


Owing to the increased risk of cancer involving the skin and other organs that is associated with this rare disorder, regular surveillance and cancer screening are important.

鉴于患者皮肤及其它脏器高癌变风险,患者应进行定期监测及癌症筛查

The patient underwent complete excision of the squamous-cell carcinoma. He remains under regular surveillance.

患者接受了前臂磷状细胞 癌全切术,定期随诊。



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