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

• Published in: Journal of the American Academy of Dermatology Vol. 58; no. 3; pp. 493 - 497
• Main Authors: Yang, Chao-Chun, MD, Happle, Rudolf, MD, Chao, Sheau-Chiou, MD, Yu-Yun Lee, Julia, MD, Chen, WenChieh, MD
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.03.2008; Elsevier
• Subjects: Adult; Biological and medical sciences; Buttocks; Cafe-au-Lait Spots - etiology; Cafe-au-Lait Spots - pathology; Codon, Nonsense; Dermatology; Exons; Female; Frameshift Mutation; Gene Deletion; Genes, Neurofibromatosis 1; Humans; Medical sciences; Mutation; Neurofibromatosis 1 - complications; Neurofibromatosis 1 - genetics; Neurology; Pigmentary diseases of the skin; Thigh; Tumors of the nervous system. Phacomatoses; Neurofibromatosis II; Skin disease; Nervous system diseases; Pigmentation disorder; Phacomatosis; Dermatology; Segmental; Benign neoplasm; Cafe au lait spot; Neurofibromatosis Recklinghausen; Genetic disease
• ISSN: 0190-9622; 1097-6787
• 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.