Hulshof M M, van Haeringen A, Gruis N A, Snels D C, Bergman W
Department of Dermatology, University Hospital Leiden, The Netherlands.
Melanoma Res. 1998 Apr;8(2):156-60. doi: 10.1097/00008390-199804000-00009.
We report two patients with multiple agminate Spitz naevi (MASM), a rare disorder. In case 1, a 16-year-old girl, the results of chromosomal investigation of fibroblasts from the affected area (translocation 45, X, t(4; 7) (p14; p22) in a mosaic pattern) suggest that early during embryogenesis a de novo reciprocal translocation has occurred between chromosomes 4 and 7. This resulted in the skin lesions as described on the right shoulder, arm and hand. The melanoma risk in MASM is also discussed.
我们报告了两名患有多发性聚集性斯皮茨痣（MASM）的患者，这是一种罕见的疾病。病例1为一名16岁女孩，对患区成纤维细胞进行染色体检查的结果（呈嵌合型的45,X,t(4;7)(p14;p22)易位）表明，在胚胎发育早期，4号和7号染色体之间发生了一种新发的相互易位。这导致了右肩、手臂和手部出现所述的皮肤病变。文中还讨论了MASM患者患黑色素瘤的风险。
