Phenotypic variation in the familial atypical multiple mole-melanoma syndrome (FAMMM).
Phenotypic variation in the familial atypical multiple mole-melanoma syndrome (FAMMM).
复制标题
家族性非典型多发性痣黑色素瘤综合征（FAMMM）的表型变异。
DOI：
10.1136/jmg.20.1.25
复制
发表时间：
1983
影响因子：
4
通讯作者：
J. Lynch
中科院分区：
文献类型：
--
作者：
H. Lynch;R. Fusaro;W. Albano;J. Pester;W. Kimberling;J. Lynch
家族性非典型多发性痣-黑色素瘤综合征（FAMMM）的特征是常染色体显性遗传易感性多发性非典型痣，表现出从黑色到棕色、棕褐色、红色或粉红色的可变着色，偶尔有杂色。这些复合痣可能是黄斑或丘疹，有规则或不规则的边界，并测量1厘米或更大的大小。它们的数量可能很少或不存在，或者在给定的患者中可能超过100个。它们主要位于不暴露在阳光下的区域。真皮乳头的黑素细胞、纤维组织增生、局灶性慢性炎性细胞浸润和新血管形成的异常改变与其组织病理学特征一致。这些发现并不一致。由于这些独特的特点，加上他们的倾向，转化为皮肤恶性黑色素瘤，很少有人注意到的可能性，无论是最小或缺乏皮肤表达的表型或更多样化的肿瘤参与这种疾病。后一种现象，我们归因于癌症易感FAMMM基因型的多效性效应，在一个单一的FAMMM家族中观察到，本报告的主题。
The familial atypical multiple mole-melanoma syndrome (FAMMM) is characterised by an autosomal dominantly inherited susceptibility to multiple atypical moles which show variable colouration ranging from black to brown, tan, red, or pink, with occasional variegation. These compound naevi may be macular or papular, with regular or irregular borders, and measure 1 cm or more in size. They may be few in number or absent or may exceed 100 in a given patient. They are located predominantly on areas not exposed to the sun. Dysplastic changes in melanocytes, fibroplasia, focal chronic inflammatory cell infiltrate, and new blood vessel formation of the papillary dermis characterise their histopathology. These findings are not uniformly present. Because of these distinctive features, coupled with their propensity for transformation to cutaneous malignant melanoma, little attention has been given to the possibility of either minimal or absent cutaneous expression of the phenotype or more diverse neoplastic involvement in this disease. These latter phenomena, which we ascribe to the pleiotropic effects of the cancer-prone FAMMM genotype, were observed in a single FAMMM kindred, the subject of this report.