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Journal of the American Academy of Dermatology
Volume 58, n° 3
pages 493-497 (mars 2008)
Doi : 10.1016/j.jaad.2007.03.013
Case Reports

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

Chao-Chun Yang, MD a, b, Rudolf Happle, MD c, Sheau-Chiou Chao, MD a, Julia Yu-Yun Lee, MD a, WenChieh Chen, MD d,
a Department of Dermatology, College of Medicine, National Cheng Kung University, Tainan, Taiwan 
b Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan 
c Department of Dermatology, Philipp University of Marburg, Marburg, Germany 
d Department of Dermatology, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan 

Reprint requests: WenChieh Chen, MD, Department of Dermatology, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Ta-Pei Road 123, Niao-Sung Township, 83301 Kaohsiung County, Taiwan.

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.

The full text of this article is available in PDF format.

 Funding source: None.
 Conflicts of interest: None declared.

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