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. 2018 Feb 7;13(1):31.
doi: 10.1186/s13023-018-0772-z.

Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study

Ashley Cannon  1 , Mei-Jan Chen  2 , Peng Li  3 , Kevin P Boyd  4 , Amy Theos  4 , David T Redden  3 , Bruce Korf  2
Affiliations

Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study

Ashley Cannon et al. Orphanet J Rare Dis. .

Abstract

Background: Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by a predisposition to develop multiple benign tumors. A major feature of NF1 is the development of localized cutaneous neurofibromas. Cutaneous neurofibromas manifest in > 99% of adults with NF1 and are responsible for major negative effects on quality of life. Previous reports have correlated increased burden of cutaneous neurofibromas with age and pregnancy, but longitudinal data are not available to establish a quantitative natural history of these lesions. The purpose of this study is to conduct a prospective natural history study of 22 adults with NF1 over an 8-year period to quantify cutaneous neurofibroma number and size.

Results: The average monthly increase in volume for cutaneous neurofibromas was 0.37 mm3 in the back region (95% CI (0.23, 0.51), p < 0.0001), 0.28 mm3 in the abdominal region (95% CI (0.16, 0.41), p < 0.0001), and 0.21 mm3 in the arm/leg region (95% CI (0.08, 0.34), p = 0.0022). The number of cutaneous neurofibromas significantly increased in the back (slope = 0.032, p = 0.011) and abdominal (slope = 0.018, p = 0.026) regions, while the leg/arm regions retained a positive trend (slope = 0.004, p = 0.055).

Conclusions: The number and volume of cutaneous neurofibromas significantly increased over an 8-year timespan; however, the rate of increase is variable by individual and body region. These findings may provide insight into cutaneous neurofibroma development and benefit researchers considering clinical trials targeting cutaneous neurofibromas.

Keywords: Cutaneous neurofibromas; Natural history study; Neurofibromatosis type 1; Random effect modeling.

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Conflict of interest statement

Ethics approval and consent to participate

This study was approved by the University of Alabama at Birmingham’s Institutional Review Board. All study participants provided written, informed consent.

Consent for publication

All study participants provided written, informed consent.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Picture of the 100cm2 paper frame used to count and measure cutaneous neurofibromas. Blue indicates cNFs that were counted (> 4 mm). Red indicates the cNFs that were measured
Fig. 2
Fig. 2
Cutaneous neurofibroma volume by body region over 96 months. Box-and-whisker plot shows the distribution of cutaneous neurofibroma volumes from the 22 patients over 96 months in the back region (a), abdominal region (b), and the upper arm or thigh (c). The circles (o) above the boxplot maximum range are suspected outliers, the stars (*) further above are outliers, the red plus (+) is the mean
Fig. 3
Fig. 3
Cutaneous neurofibroma number by body region over 96 months. Line graph demonstrates the number of cutaneous neurofibromas in the back region (a), abdominal region (b), and the upper arm or thigh (c) for each study participant that completed all study visits. The thick blue line represents the slope
Fig. 4
Fig. 4
Visualization of cutaneous neurofibroma growth over 96 months. Black and red arrows denote 2 different cNFs at baseline (a), 24 months (b) and 96 months (c) that exhibited significant growth. Photos taken from the abdominal region of Patient 26
See this image and copyright information in PMC

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