title: Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1?
abstract: 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.
authors.affiliation: Department of Dermatology, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
authors.forename: Chao-Chun
authors.initials: CC
authors.lastname: Yang
authors.forename: Rudolf
authors.initials: R
authors.lastname: Happle
authors.forename: Sheau-Chiou
authors.initials: SC
authors.lastname: Chao
authors.forename: Julia
authors.initials: J
authors.lastname: Yu-Yun Lee
authors.forename: WenChieh
authors.initials: W
authors.lastname: Chen
mesh_terms: D000328:Adult; D002081:Buttocks; D019080:Cafe-au-Lait Spots / Q000209:etiology* / Q000473:pathology*; D018389:Codon, Nonsense; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics*; D013848:Thigh
chemical_list: D018389:Codon, Nonsense