Lee Min Young, Jin Suna, Lee Kyung-Hwa, Park Min Ho, Jung Sung Taek, Rubin Adam, Yun Sook Jung
Department of Dermatology, Chonnam National University Medical School, Gwangju, Korea.
Department of Pathology, Chonnam National University Medical School, Gwangju, Korea.
J Cutan Pathol. 2019 May;46(5):383-388. doi: 10.1111/cup.13435. Epub 2019 Mar 28.
A 36-year-old man presented with a subcutaneous nodule on the right upper arm. A small nodule had developed 8 years earlier, and grew in size, accompanied by a tingling sensation and numbness. In addition, he had a bluish irregular patch on the right hand since birth, which crossed from the palm to the dorsal hand. Skin biopsies from the hand showed a heavily pigmented melanocyte proliferation in the dermis with perieccrine, perivascular, and perineural involvement, and a diagnosis of congenital plaque-type blue nevus was made. The tumor on the arm was located closely along the median nerve, and was observed as a large black pedunculated round tumor. Histopathologically, the tumor on the arm consisted of densely packed tissue with nevoid cells without atypia in the larger nodular part, and heavily pigmented spindle and epithelioid melanocytes in the slender stalk area, which was diagnosed as cellular blue nevus with pigmented epithelioid melanocytoma-like pattern. Next-generation sequencing revealed GNAQ mutations in the hand lesion, and in the lesions on the arm. This case suggests that the areas of skin following the same neural distribution of a congenital plaque-type blue nevus on the extremities should be followed up for secondary changes.
一名36岁男性因右上臂出现皮下结节就诊。8年前出现一个小结节，之后逐渐增大，并伴有刺痛感和麻木感。此外，他自出生以来右手就有一块蓝色不规则斑片，从手掌延伸至手背。手部皮肤活检显示真皮内有大量色素沉着的黑素细胞增生，累及汗腺周围、血管周围和神经周围，诊断为先天性斑块型蓝痣。手臂上的肿瘤紧邻正中神经，表现为一个带蒂的黑色大圆形肿瘤。组织病理学检查显示，手臂上的肿瘤在较大的结节部分由密集排列的组织和无异型性的痣样细胞组成，在细长的蒂部区域有大量色素沉着的梭形和上皮样黑素细胞，诊断为具有色素性上皮样黑素细胞瘤样模式的细胞性蓝痣。二代测序显示手部病变和手臂病变均存在GNAQ突变。该病例提示，对于四肢先天性斑块型蓝痣沿相同神经分布的皮肤区域，应随访观察是否出现继发性改变。
