Yang Chao-Chun, Happle Rudolf, Chao Sheau-Chiou, Yu-Yun Lee Julia, Chen WenChieh
Department of Dermatology, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
J Am Acad Dermatol. 2008 Mar;58(3):493-7. doi: 10.1016/j.jaad.2007.03.013.
Type 2 segmental manifestation of autosomal dominant dermatoses refers to pronounced segmental lesions superimposed on the ordinary nonsegmental phenotype, indicating loss of heterozygosity occurring at an early stage of embryogenesis. We describe a 20-year-old Taiwanese woman with typical lesions of neurofibromatosis type 1 (NF1) in the form of characteristic café-au-lait spots, neurofibromas, axillary freckling and Lisch nodules. In addition, a giant garment-like or "bathing-trunk" café-au-lait macule involved the lower half of the trunk, the buttocks, and parts of the thighs, being superimposed on the ordinary smaller spots of NF1. This large café-au-lait macule may be best explained as an example of type 2 segmental NF1. A novel mutation (3009delG) in exon 23 was also identified in this patient, which has not yet been described in sporadic and familial NF1.
常染色体显性遗传性皮肤病的2型节段性表现是指明显的节段性皮损叠加在普通的非节段性表型上，这表明在胚胎发育早期发生了杂合性缺失。我们描述了一名20岁的台湾女性，她患有1型神经纤维瘤病（NF1）的典型皮损，表现为特征性的咖啡斑、神经纤维瘤、腋窝雀斑和Lisch结节。此外，一个巨大的衣服样或“泳裤样”咖啡斑累及躯干下半部、臀部和部分大腿，叠加在普通的较小的NF1咖啡斑上。这个大的咖啡斑最好解释为2型节段性NF1的一个例子。在该患者中还鉴定出一个位于外显子23的新突变（3009delG），该突变在散发性和家族性NF1中尚未见报道。
