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European Journal of Dermatology

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Neurofibromatosis type 1 without cutaneous neurofibromas: a rare genotype-phenotype correlation? Volume 30, numéro 5, September-October 2020

Illustrations

  • Figure 1
Auteurs
1 Department of Dermatology, Sapporo Medical University School of Medicine, South 1, West 16, Chuo-ku, Sapporo 060-8543, Japan
2 Department of Medical Genome Sciences, Research Institute for Frontier Medicine, Sapporo Medical University School of Medicine, South 1, West 17, Chuo-ku, Sapporo 060-8556, Japan
3 Department of Medical Genetics, Sapporo Medical University School of Medicine, Sapporo, South 1, West 16, Chuo-ku, Sapporo 060-8543, Japan

Neurofibromatosis type 1 (NF1), caused by variations in the NF1 gene, is characterized by café-au-lait spots (CALs), axillary frecklings (AFs), cutaneous neurofibromas (CNFs), plexiform neurofibromas, Lisch nodules, bone abnormalities, malignant neoplasms and learning disability [1]. CALs and AFs develop at birth or during childhood. CNFs usually develop after puberty and are present in nearly all patients with NF1 [2]. However, there are individuals with familial CALs and AFs but without CNFs even [...]