†These authors contributed equally to the manuscript.
Pigment cell-related manifestations in neurofibromatosis type 1: an overview
Article first published online: 15 DEC 2004
Pigment Cell Research
Volume 18, Issue 1, pages 13–24, February 2005
How to Cite
Schepper, S. D., Boucneau, J., Lambert, J., Messiaen, L. and Naeyaert, J.-M. (2005), Pigment cell-related manifestations in neurofibromatosis type 1: an overview. Pigment Cell Research, 18: 13–24. doi: 10.1111/j.1600-0749.2004.00206.x
- Issue published online: 12 JAN 2005
- Article first published online: 15 DEC 2004
- Received 23 August 2004, revised and accepted for publication 14 September 2004
- neurofibromatosis type 1;
- café-au-lait macules;
- lisch nodules;
Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder, affecting approximately 1 in 3500 individuals. The most commonly seen tumors in NF1 patients are the (sub)cutaneous neurofibromas. However, individuals with NF1 typically present in childhood with well-defined pigmentary defects, including café-au-lait macules (CALMs), intertriginous freckling and iris Lisch nodules. NF1 is considered a neurocristopathy, primarily affecting tissues derived from the neural crest. Since the pigment producing melanocyte originates in the neural crest, the presence of (hyper)pigmentary lesions in the NF1 phenotype because of changes in melanocyte cell growth and differentiation is to be expected. We want to discuss the pigmentary cutaneous manifestations of NF1 represented by CALMs and intertriginous freckles and the pigmentary non-cutaneous manifestations represented by iris Lisch nodules. Several hypotheses have been suggested in explaining the poorly understood etiopathogenesis of CALMs. Whether other pigmentary manifestations might share similar etiopathogenic mechanisms remains obscure. Additional attention will be drawn to a readily seen phenomenon in NF1: hyperpigmentation overlying (plexiform) neurofibromas, which could suggest common etiopathogenetic-environmental cues or mechanisms underlying CALMs and neurofibromas. Finally, we want to address the relationship between malignant melanoma and NF1.