Giant café-au-lait macule in neurofibromatosis 1: A type 2 segmental manifestation of neurofibromatosis 1?

Chao-Chun Yang, Rudolf Happle, Sheau-Chiou Chao, Yu-Yun Lee, Wen Chieh Chen

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)493-497
Number of pages5
JournalJournal of the American Academy of Dermatology
Volume58
Issue number3
DOIs
Publication statusPublished - 2008 Mar 1

All Science Journal Classification (ASJC) codes

  • Dermatology

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