Abstract：
McCune - Albright syndrome is a genetic disease with cutaneous mosaicism caused by post-zygotic activating mutations in GNAS locus, it has a triad of fibrous bone dysplasia, café-au-lait macules and precocious puberty. We examined a 22-year-old female patient with café au lait spot in right side of the abdomen, with a chessboard - like distribution, extending to right thigh with geographical contours, she has also an ovarian cyst, scoliosis and truncal obesity. Biopsies were taken from the hyperpigmented area and processed for light microscopy and for transmission electron microscopy. Light microscopy showed increased melanin pigment with HE staining. Immunohistochemistry with melanocytic markers (HMB-45 and Melan-A) revealed a normal number of melanocytes. Transmission electron microscopy demonstrated normal epidermal structures, such as desmosomes, cytokeratin filaments and hemidesmosomes. With high magnifications an irregular melanossomal contour was seen, with some indentations in their outline.
摘要：
McCune-Albright综合征是一种由GNAS位点合子激活后突变引起的皮肤镶嵌性遗传疾病。它有纤维骨发育不良的三联征，咖啡-au-lait斑疹和性早熟。我们检查了一名22岁的女性患者，腹部右侧有咖啡斑，像棋盘一样的分布，延伸到右大腿与地理轮廓，她也有卵巢囊肿,脊柱侧弯和躯干肥胖。从色素沉着过度的区域进行活检，并进行光学显微镜和透射电子显微镜检查。光镜下HE染色显示黑色素增加。黑素细胞标记（HMB-45和Melan-A）的免疫组织化学显示黑素细胞数量正常。透射电镜显示正常的表皮结构，比如桥粒，细胞角蛋白丝和半染色体。在高放大倍数下，可以看到不规则的黑色素体轮廓，轮廓中有一些凹痕。
