Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1?
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.
Yang
Chao-Chun
CC
Department of Dermatology, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Happle
Rudolf
R
Chao
Sheau-Chiou
SC
Yu-Yun Lee
Julia
J
Chen
WenChieh
W
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
D018389:Codon, Nonsense