Self-evaluation of disease visibility in patients with neurofibromatosis type 1: development of an online scale

Submission date: 06/21/2023
Final decision: 08/28/2023
Funding source: This study was partially funded by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior, Brasil (CAPES) under Finance Code 001.
Conflict of interest: None.
How to cite this article: Bicudo NP, Avó LRS, Germano CMR, Melo DG. Self-evaluation of disease visibility in patients with neurofibromatosis type 1: development of an online scale. Surg Cosmet Dermatol. 2023;15:20230268.

Dear Editor,

Neurofibromatosis type 1 (NF1) is a rare genetic disorder that affects approximately one in every 3,000 individuals, regardless of sex or ethnic background.^1,2 The disorder is caused by a mutation in the NF1 gene, which functions as a tumor suppressor.² The phenotypic expression of NF1 is highly variable. Nearly all patients develop small benign skin tumors that increase in number and visibility with age. In addition, 30% of adults with NF1 have visible plexiform neurofibromas.³

The NF1's visibility of NF1 manifestations is strongly associated with patients' quality of life and well-being of individuals.^1-4 Research suggests that patients' self-perception of their appearance is more important to them than visibility rated by external ratings.^1,4 Therefore, the assessment of disease visibility in NF1 should ideally be based on self-reported questionnaires rather than ratings by specialists.⁴

The aim of this study was to develop a self-rating scale, based on the Ablon Visibility Scale5 to measure NF1 visibility scale5 (Table 1). The scale is designed for remote access and self-administration by patients. It consists of eight yes/no questions, with NF1 visibility is classified into three levels: 1 (mild), 2 (moderate), and 3 (severe), based on the combination of responses (Table 2). To ensure clarity, we used simple language to make technical terms easily understandable to patients. For remote use, the scale was implemented via Google Forms, incorporating images from the Dermatology Information System to assist individuals in completing the assessment (https://doi.org/10.6084/m9.figshare.14442107.v4).

To assess the feasibility of the scale, we conducted an observational clinical study involving seven adult patients with NF1. Six of these patients had previously participated in research conducted by our group in 2014, during which they were classified in person using Ablon Scale.2 Between April and May 2021, these individuals used the newly developed NF1 visibility self-evaluation scale to rate themselves and were subsequently rated remotely by a dermatologist using the same tool. Table 3 compares the 2014 face-to-face classifications with both the self-assessments and the dermatologist's remote evaluations from 2021. Four patients rated their disease as more visible than in the 2014 face-to-face assessment, but their self-ratings matched the dermatologist's remote classification in 2021. This discrepancy may be attributed to the natural progression of the disease. Overall, there was complete agreement between the patient self-assessments and the dermatologist's remote evaluations using the NF1 visibility self-evaluation scale.

Visibility and severity of NF1 are important to distinguish. Visibility refers to the outward appearance of a fully clothed individual and how easily symptoms are noticed during casual, impersonal interactions. Many individuals with NF1 may not have visible phenotypic features in commonly exposed areas, but they may have numerous tumors and/or café-au-lait spots in areas that could become visible in certain situations, such as on the beach or during intimate contact.^3,5 In contrast, severity encompasses both clinical and cosmetic factors, including impact on lifestyle, mobility, and even life-threatening complications.1-4 While visibility can be self-assessed by the patient, as it involves only external features that can be observed and reported, severity assessment requires professional analysis. This assessment considers the extent of dermatologic involvement and the presence of disabling complications. Both visibility and severity of NF1 are related to psychosocial well-being and the need for appropriate support.^1-4

The visibility scale we developed has proven to be a valuable tool that can be used in clinical research as well as in the care of individual patients. By allowing patients to apply the scale themselves, it emphasizes the importance of their personal perception of their condition and can help improve their understanding of the disease and its progression.

Acknowledgments

We are sincerely grateful to the Dermatology Information System (DermIS) for allowing us to use their images during the development of the scale.

Availability of data and materials

The datasets generated and/or analyzed during the current study are available from the corresponding author upon reasonable request.

Financial support

This study was partially funded by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior, Brasil (CAPES) under Finance Code 001.

Conflict of interest

The authors declare no conflicts of interest.

Ethics approval and consent to participate

This study was approved by the Human Research Ethics Committee at Universidade Federal de São Paulo (CAAE 29747620.0.0000.5504), and all participants provided informed consent.

AUTHOR'S CONTRIBUTION:

Natália Parenti Bicudo
ORCID: 0000-0001-8674-0349
Approval of the final version of the manuscript, study conception and planning, drafting and writing the manuscript, data collection, analysis, and interpretation, intellectual contribution to the diagnostic and/or therapeutic management of the cases studied, critical literature review, critical review of the manuscript
Lucimar Retto da Silva de Avó
ORCID: 0000-0001-7282-420X
Approval of the final version of the manuscript, study conception and planning, critical review of the manuscript
Carla Maria Ramos Germano
ORCID: 0000-0001-5030-7164
Approval of the final version of the manuscript, study conception and planning, critical review of the manuscript
Débora Gusmão Melo
ORCID: 0000-0001-7005-3544
Approval of the final version of the manuscript, study conception and planning, drafting and writing the manuscript, active participation in research supervision, critical literature review, critical review of the manuscript

REFERENCES:

1. Granström S, Langenbruch A, Augustin M, Mautner VF. Psychological burden in adult neurofibromatosis type 1 patients: impact of disease visibility on body image. Dermatology. 2012;224(2):160-167.

2. Bicudo NP, Menezes Neto BF, Avó LRS, Germano CM, Melo DG. Quality of life in adults with neurofibromatosis 1 in Brazil. J Genet Couns. 2016;25(5):1063-1074.

3. Doser K, Andersen EW, Kenborg L, Dalton SO, Jepsen JRM, Kroyer A, et al. Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: a nationwide study. Am J Med Genet A. 2020;182(7):1704-1715.

4. Hamoy-Jimenez G, Kim R, Suppiah S, Zadeh G, Bril V, Barnett C. Quality of life in patients with neurofibromatosis type 1 and 2 in Canada. Neurooncol Adv. 2020;2(Suppl 1):i141-i149.

5. Ablon J. Gender response to neurofibromatosis 1. Soc Sci Med. 1996;42(1):99-109.