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Journal of the American Academy of Dermatology
Volume 63, n° 3
pages 440-447 (septembre 2010)
Doi : 10.1016/j.jaad.2009.09.042
accepted : 3 September 2009
Original Articles

Phenotypic variability among café-au-lait macules in neurofibromatosis type 1
 

Kevin P. Boyd, MD a, b, Liyan Gao, PhD c, Rui Feng, PhD d, Mark Beasley, PhD e, Ludwine Messiaen, PhD b, Bruce R. Korf, MD, PhD b, Amy Theos, MD a,
a Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama 
b Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 
c Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama 
d Department of Biostatistics, University of Alabama at Birmingham, Birmingham, Alabama 
e Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, Pennsylvania 

Reprint requests: Amy Theos, MD, Department of Dermatology, University of Birmingham at Alabama, EFH 414, 1530 3 Ave S, Birmingham, AL 35294-0009.
Abstract
Background

Café-au-lait macules (CALMs) in neurofibromatosis type 1 (NF1) are an early and accessible phenotype in NF1, but have not been extensively studied.

Objective

We sought to more fully characterize the phenotype of CALMs in patients with NF1.

Methods

In all, 24 patients with a diagnosis of NF1 confirmed through clinical diagnosis or molecular genetic testing were recruited from patients seen in the genetics department at the University of Alabama at Birmingham. CALM locations were mapped using standard digital photography. Pigment intensity was measured with a narrowband spectrophotometer, which estimates the relative amount of melanin based on its absorption of visible light. The major response was defined as the difference between the mean melanin from the CALM and the mean melanin from the surrounding skin. The major response for each spot was compared with spots within an individual and across individuals in the study population.

Results

There was significant variability of the major response, primarily attributable to intrapersonal variability (48.4%, P < .0001) and secondly to interpersonal variability (33.0%, P < .0094). Subsequent analysis based on genetic mutation type showed significantly darker spots in individuals with germline mutations leading to haploinsufficiency.

Limitations

The study was performed on a small population of patients and the method has not yet been used extensively for this purpose.

Conclusions

CALMs vary in pigment intensity not only across individuals, but also within individuals and this variability was unrelated to sun exposure. Further studies may help elucidate the molecular basis of this finding, leading to an increased understanding of the pathogenesis of CALMs in NF1.

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

Key words : café-au-lait macule, neurofibromatosis type 1, phenotype-genotype correlation, reflectance spectroscopy

Abbreviations used : CALM, CIE, NF1, NIH



 Supported in part by grants from the Department of Dermatology and Skin Diseases Research Center, University of Alabama at Birmingham and the Dermatology Foundation.
 Conflicts of interest: None declared.



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